ERBB2 (erb-b2 receptor tyrosine kinase 2) - Rat Genome Database

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Gene: ERBB2 (erb-b2 receptor tyrosine kinase 2) Homo sapiens
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Symbol: ERBB2
Name: erb-b2 receptor tyrosine kinase 2
RGD ID: 619563
HGNC Page HGNC:3430
Description: Enables several functions, including ErbB-3 class receptor binding activity; enzyme binding activity; and protein heterodimerization activity. Contributes to growth factor binding activity. Involved in several processes, including ERBB2-EGFR signaling pathway; cellular response to epidermal growth factor stimulus; and positive regulation of macromolecule biosynthetic process. Acts upstream of or within cell surface receptor signaling pathway. Located in several cellular components, including basolateral plasma membrane; endosome membrane; and nucleoplasm. Part of ERBB3:ERBB2 complex. Implicated in carcinoma (multiple); high grade glioma; reproductive organ cancer (multiple); stomach cancer; and urinary bladder cancer. Biomarker of several diseases, including carcinoma (multiple); ductal carcinoma in situ; invasive lobular carcinoma; pre-eclampsia (multiple); and urinary system cancer (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: c-erb B2/neu protein; c-ERB-2; c-ERB2; CD340; HER-2; HER-2/neu; HER2; herstatin; human epidermal growth factor receptor 2; metastatic lymph node gene 19 protein; MLN 19; MLN-19; NEU; neuro/glioblastoma derived oncogene homolog; neuroblastoma/glioblastoma derived oncogene homolog; NGL; p185(erbB2); p185erbB2; proto-oncogene c-ErbB-2; proto-oncogene Neu; receptor tyrosine-protein kinase erbB-2; TKR1; tyrosine kinase-type cell surface receptor HER2; v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2; v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog); v-erb-b2 avian erythroblastic leukemia viral oncoprotein 2; v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog; VSCN2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381739,688,094 - 39,728,658 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1739,687,914 - 39,730,426 (+)EnsemblGRCh38hg38GRCh38
GRCh371737,844,347 - 37,884,911 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361735,097,919 - 35,138,441 (+)NCBINCBI36Build 36hg18NCBI36
Build 341735,109,779 - 35,138,441NCBI
Celera1734,504,111 - 34,544,648 (+)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1733,638,318 - 33,678,659 (+)NCBIHuRef
CHM1_11738,080,177 - 38,120,667 (+)NCBICHM1_1
T2T-CHM13v2.01740,551,660 - 40,592,218 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
adenocarcinoma  (EXP)
Animal Disease Models  (EXP)
Animal Mammary Neoplasms  (EXP)
basal cell carcinoma  (EXP)
Breast Cancer, Familial  (IAGP)
Breast Neoplasms  (EXP,IAGP,IDA,IEP,IMP)
calcinosis  (IEP)
Carcinogenesis  (EXP)
cholangiocarcinoma  (EXP)
Circulating Neoplastic Cells  (EXP)
Colonic Neoplasms  (EXP)
colorectal cancer  (IAGP)
Colorectal Neoplasms  (IAGP)
congestive heart failure  (ISO)
Diabetic Cardiomyopathies  (ISO)
dilated cardiomyopathy  (IEP,ISO,ISS)
disease of cellular proliferation  (IAGP)
Disease Progression  (EXP)
ductal carcinoma in situ  (IEP)
Endometrial Neoplasms  (IAGP,IEP,TAS)
Endometrioid Carcinomas  (IEP)
esophageal carcinoma  (IAGP)
Esophageal Neoplasms  (EXP)
Experimental Mammary Neoplasms  (EXP,IMP,ISO)
Experimental Neoplasms  (EXP)
Familial Visceral Neuropathy 2, Autosomal Recessive  (IAGP)
gallbladder carcinoma  (IAGP)
Gallbladder Neoplasms  (EXP)
gastric adenocarcinoma  (IAGP)
Gastrointestinal Neoplasms  (EXP)
genetic disease  (IAGP)
head and neck squamous cell carcinoma  (IAGP,IEP)
Helicobacter Infections  (IEP)
HELLP syndrome  (IEP)
high grade glioma  (EXP,IAGP)
Hirschsprung's disease  (ISO,ISS)
hypertrophic cardiomyopathy 25  (IAGP)
invasive ductal carcinoma  (EXP)
invasive lobular carcinoma  (IEP)
Kidney Neoplasms  (IDA)
laryngeal squamous cell carcinoma  (IEP)
lung adenocarcinoma  (IAGP)
lung cancer  (IAGP)
Lung Neoplasms  (EXP)
lung non-small cell carcinoma  (IAGP,TAS)
Lymphatic Metastasis  (EXP,IEP)
mammary Paget's disease  (IAGP)
median neuropathy  (ISO)
medulloblastoma  (EXP)
melanoma  (IAGP)
Mouth Neoplasms  (ISO)
Myocardial Ischemia  (IEP)
Neoplasm Metastasis  (EXP,ISO)
Neoplasm Recurrence, Local  (EXP)
nephroblastoma  (IEP)
oral squamous cell carcinoma  (IEP)
ovarian cancer  (IAGP)
ovarian carcinoma  (EXP)
Ovarian Neoplasms  (EXP,IAGP,IEP)
ovarian serous cystadenocarcinoma  (IAGP)
ovary adenocarcinoma  (IAGP)
pancreatic adenocarcinoma  (IAGP)
papillary renal cell carcinoma  (IAGP)
papilloma  (EXP)
Parkinson's disease  (IEP)
pre-eclampsia  (IEP)
prostate adenocarcinoma  (IAGP)
prostate cancer  (IAGP,IDA)
Prostatic Neoplasms  (EXP)
Recurrence  (EXP)
renal cell carcinoma  (EXP,IDA,IEP)
skin melanoma  (IAGP)
Sporadic Papillary Renal Cell Carcinoma  (IAGP)
stomach cancer  (IAGP)
stomach carcinoma  (IEP)
Stomach Neoplasms  (EXP)
transitional cell carcinoma  (IAGP,IEP)
urinary bladder cancer  (EXP,IAGP,IDA,IEP)
Urologic Neoplasms  (IEP)
uterine cancer  (IAGP)
uterine carcinosarcoma  (IAGP)
Uterine Cervical Neoplasms  (IAGP,IEP)
Wallerian Degeneration  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-Tetrandrine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-acetamidofluorene  (ISO)
2-deoxy-D-glucose  (EXP)
2-hydroxypropanoic acid  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3'-diindolylmethane  (EXP)
3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol  (EXP)
3,7-dihydropurine-6-thione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-Nitrobenzanthrone  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4'-epidoxorubicin  (EXP)
4-hydroxynon-2-enal  (EXP)
4-nonylphenol  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetaldehyde  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
acrylamide  (EXP,ISO)
afimoxifene  (EXP,ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-pinene  (EXP)
amiloride  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
androgen antagonist  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
apigenin  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
baicalein  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (EXP)
benzophenanthridine  (EXP)
berberine  (EXP)
beta-hexachlorocyclohexane  (EXP,ISO)
beta-naphthoflavone  (EXP)
bifenthrin  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisdemethoxycurcumin  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bortezomib  (EXP)
bosutinib  (ISO)
butanal  (EXP)
Butylparaben  (ISO)
cadmium atom  (EXP)
caffeine  (EXP)
canertinib  (EXP)
cannabidiol  (EXP)
capsaicin  (EXP)
captan  (ISO)
carbamazepine  (EXP,ISO)
carboplatin  (EXP)
CGP 52608  (EXP)
chloroquine  (EXP)
chlorothalonil  (EXP)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
clozapine  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cordycepin  (EXP)
coumarin  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
Cruentaren A  (EXP)
CU-O LINKAGE  (EXP)
Cuprizon  (ISO)
curcumin  (EXP)
cycloheximide  (EXP)
cyclophosphamide  (EXP)
cyclosporin A  (EXP)
cyhalothrin  (EXP)
D-glucose  (EXP)
DDE  (ISO)
DDT  (EXP)
delphinidin  (EXP)
demethoxycurcumin  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
dibenz[a,h]anthracene  (EXP)
dibutyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
dutasteride  (EXP)
elemental selenium  (EXP)
endosulfan  (EXP,ISO)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl trans-caffeate  (EXP)
etoposide  (EXP)
fipronil  (ISO)
fisetin  (EXP)
fludioxonil  (EXP)
fluvalinate  (EXP)
folic acid  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gefitinib  (EXP)
geldanamycin  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glucose  (EXP)
haloperidol  (ISO)
Heptachlor epoxide  (EXP)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
Indeno[1,2,3-cd]pyrene  (EXP)
indometacin  (EXP)
irinotecan  (ISO)
iron(2+) sulfate (anhydrous)  (EXP)
kahweol  (EXP)
L-methionine  (ISO)
lactacystin  (EXP)
lapatinib  (EXP,ISO)
lead(0)  (EXP)
lignan  (EXP)
linuron  (ISO)
lithium chloride  (EXP)
LY294002  (EXP)
masoprocol  (EXP)
mechlorethamine  (EXP)
mercaptopurine  (ISO)
methotrexate  (EXP)
mitoxantrone  (EXP)
MK-2206  (EXP)
N-acetylcysteamine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
nitrogen mustard  (EXP)
orlistat  (EXP)
Oxyfluorfen  (EXP)
ozone  (EXP)
paclitaxel  (EXP)
palmatine  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
permethrin  (EXP)
phenylmercury acetate  (EXP)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
Pirarubicin  (EXP)
platycodin D  (EXP)
prochloraz  (ISO)
procymidone  (ISO)
purine-6-thiol  (ISO)
quercetin  (EXP)
quinazolines  (EXP)
rac-lactic acid  (EXP)
raloxifene  (ISO)
reparixin  (EXP)
reserpine  (ISO)
resveratrol  (EXP,ISO)
Rhein  (EXP)
risperidone  (ISO)
romidepsin  (EXP)
SB 203580  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
SR 144528  (EXP)
sulfadimethoxine  (ISO)
sulindac sulfide  (EXP)
sulindac sulfone  (EXP)
tamoxifen  (EXP,ISO)
tanespimycin  (EXP)
temozolomide  (EXP)
tephrosin  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
tetraphene  (EXP)
thalidomide  (EXP)
Thiotepa  (EXP)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
tyrphostin AG 1478  (EXP)
undecane  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vincaleukoblastine  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
cell surface receptor protein tyrosine kinase signaling pathway  (IDA,IEA)
cell surface receptor signaling pathway  (IDA)
cellular response to epidermal growth factor stimulus  (IMP)
cellular response to growth factor stimulus  (IDA)
enzyme-linked receptor protein signaling pathway  (TAS)
ERBB signaling pathway  (IEA)
ERBB2-EGFR signaling pathway  (IDA,IEA)
ERBB2-ERBB3 signaling pathway  (IEA)
ERBB2-ERBB4 signaling pathway  (IEA)
estrous cycle  (ISO)
glial cell differentiation  (ISO)
heart development  (IEA,ISO)
immature T cell proliferation in thymus  (IEA,ISO)
intracellular signal transduction  (IDA)
liver development  (ISO)
mammary gland involution  (ISO)
motor neuron axon guidance  (IEA,ISO)
myelination  (IEA,ISO)
negative regulation of apoptotic process  (IBA,IEA,ISO)
negative regulation of immature T cell proliferation in thymus  (IEA,ISO)
nervous system development  (IEA,ISO)
neurogenesis  (IBA)
neuromuscular junction development  (IEA,ISO)
neuron differentiation  (IBA,IEA)
neurotransmitter receptor localization to postsynaptic specialization membrane  (IEA)
oligodendrocyte differentiation  (IEA,ISO)
peripheral nervous system development  (IEA,ISO)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IDA)
positive regulation of cell adhesion  (IDA)
positive regulation of cell growth  (IMP)
positive regulation of cell population proliferation  (IBA,IEA,ISO)
positive regulation of epithelial cell proliferation  (IDA)
positive regulation of gene expression  (IEA,ISO)
positive regulation of MAPK cascade  (IBA,IEA,ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (ISO)
positive regulation of protein phosphorylation  (IEA,ISS)
positive regulation of protein targeting to membrane  (IDA)
positive regulation of Ras protein signal transduction  (ISO)
positive regulation of Rho protein signal transduction  (IEA,ISS)
positive regulation of transcription by RNA polymerase I  (IMP)
positive regulation of translation  (IMP)
protein autophosphorylation  (ISO)
regulation of angiogenesis  (NAS)
regulation of cell communication  (IEA)
regulation of cell population proliferation  (IEA)
regulation of ERK1 and ERK2 cascade  (IMP)
regulation of microtubule-based process  (IDA)
regulation of signaling  (IEA)
response to axon injury  (ISO)
response to progesterone  (ISO)
response to xenobiotic stimulus  (ISO)
Schwann cell development  (IEA)
semaphorin-plexin signaling pathway  (IEA,ISS)
signal transduction  (IDA)
skeletal muscle tissue development  (ISO)
sympathetic nervous system development  (ISO)
tongue development  (ISO)
wound healing  (IDA)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Adducted thumb  (IAGP)
Aganglionic megacolon  (IAGP)
Alveolar cell carcinoma  (IAGP)
Astrocytoma  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bladder neoplasm  (IAGP)
Breast carcinoma  (IAGP)
Chronic constipation  (IAGP)
Colon cancer  (IAGP)
Constipation  (IAGP)
Cutaneous melanoma  (IAGP)
Diarrhea  (IAGP)
Dysgerminoma  (IAGP)
Ependymoma  (IAGP)
Esophageal carcinoma  (IAGP)
Failure to thrive in infancy  (IAGP)
Functional abnormality of the gastrointestinal tract  (IAGP)
Gastric adenocarcinoma  (IAGP)
Glioblastoma multiforme  (IAGP)
Increased level of L-fucose in urine  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intestinal obstruction  (IAGP)
Intestinal polyposis  (IAGP)
Lung adenocarcinoma  (IAGP)
Melanoma  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neoplasm of the thyroid gland  (IAGP)
Non-small cell lung carcinoma  (IAGP)
Ovarian neoplasm  (IAGP)
Ovarian papillary adenocarcinoma  (IAGP)
Pancreatic adenocarcinoma  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Prostate cancer  (IAGP)
Ptosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sepsis  (IAGP)
Short stature  (IAGP)
Short-segment aganglionic megacolon  (IAGP)
Squamous cell carcinoma of the skin  (IAGP)
Stomach cancer  (IAGP)
Talipes equinovarus  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Typified by somatic mosaicism  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The molecular biology of endometrial cancers and the implications for pathogenesis, classification, and targeted therapies. Bansal N, etal., Cancer Control. 2009 Jan;16(1):8-13.
2. Absence of HER4 expression predicts recurrence of ductal carcinoma in situ of the breast. Barnes NL, etal., Clin Cancer Res. 2005 Mar 15;11(6):2163-8.
3. Prognostic implications of altered human epidermal growth factor receptors (HERs) in gastric carcinomas: HER2 and HER3 are predictors of poor outcome. Begnami MD, etal., J Clin Oncol. 2011 Aug 1;29(22):3030-6. doi: 10.1200/JCO.2010.33.6313. Epub 2011 Jun 27.
4. Co-localization of multiple ErbB receptors in stratified epithelium of oral squamous cell carcinoma. Bei R, etal., J Pathol. 2001 Oct;195(3):343-8. doi: 10.1002/path.965.
5. HER-2 gene amplification in Paget disease of the nipple and extramammary site: a chromogenic in situ hybridization study. Bianco MK and Vasef MA, Diagn Mol Pathol. 2006 Sep;15(3):131-5.
6. Immunohistochemical expression patterns of the HER4 receptors in normal mucosa and in laryngeal squamous cell carcinomas: antioncogenic significance of the HER4 protein in laryngeal squamous cell carcinoma. Bussu F, etal., Laryngoscope. 2012 Aug;122(8):1724-33. doi: 10.1002/lary.23311. Epub 2012 May 1.
7. Expression of neuregulins and their putative receptors, ErbB2 and ErbB3, is induced during Wallerian degeneration. Carroll SL, etal., J Neurosci 1997 Mar 1;17(5):1642-59.
8. EGFR-activating mutations, DNA copy number abundance of ErbB family, and prognosis in lung adenocarcinoma. Chen HY, etal., Oncotarget. 2016 Feb 23;7(8):9017-25. doi: 10.18632/oncotarget.7029.
9. Colonic epithelial expression of ErbB2 is required for postnatal maintenance of the enteric nervous system. Crone SA, etal., Neuron 2003 Jan 9;37(1):29-40.
10. Protein levels and gene expressions of the epidermal growth factor receptors, HER1, HER2, HER3 and HER4 in benign and malignant ovarian tumors. Dahl Steffensen K, etal., Int J Oncol. 2008 Jul;33(1):195-204.
11. Grb2 and Shc adapter proteins play distinct roles in Neu (ErbB-2)-induced mammary tumorigenesis: implications for human breast cancer. Dankort D, etal., Mol Cell Biol 2001 Mar;21(5):1540-51.
12. Expression of the epidermal growth factor system in endometrioid endometrial cancer. Ejskjaer K, etal., Gynecol Oncol. 2007 Jan;104(1):158-67. Epub 2006 Sep 7.
13. HER-2/neu expression is associated with high tumor cell proliferation and aggressive phenotype in a population based patient series of endometrial carcinomas. Engelsen IB, etal., Int J Oncol. 2008 Feb;32(2):307-16.
14. The prognostic significance of human epidermal growth factor receptor correlations in squamous cell cervical carcinoma. Fuchs I, etal., Anticancer Res. 2007 Mar-Apr;27(2):959-63.
15. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
16. An exploratory analysis of HER-2 amplification and overexpression in advanced endometrial carcinoma: a Gynecologic Oncology Group study. Grushko TA, etal., Gynecol Oncol. 2008 Jan;108(1):3-9. Epub 2007 Oct 18.
17. Neuregulin-1/ErbB signaling is impaired in the rat model of diabetic cardiomyopathy. Gui C, etal., Cardiovasc Pathol. 2012 Sep-Oct;21(5):414-20. doi: 10.1016/j.carpath.2011.12.006. Epub 2012 Jan 28.
18. The correlations between HPV16 infection and expressions of c-erbB-2 and bcl-2 in breast carcinoma. He Q, etal., Mol Biol Rep. 2008 Apr 22;.
19. Molecular detection and prognostic value of circulating cytokeratin-19 messenger RNA-positive and HER2 messenger RNA-positive cells in the peripheral blood of women with early-stage breast cancer. Ignatiadis M, etal., Clin Breast Cancer. 2007 Dec;7(11):883-9.
20. Influences of dopaminergic lesion on epidermal growth factor-ErbB signals in Parkinson's disease and its model: neurotrophic implication in nigrostriatal neurons. Iwakura Y, etal., J Neurochem. 2005 May;93(4):974-83.
21. Overexpression of HER-2/neu oncogene and transitional cell carcinoma of bladder. Jalali Nadoushan MR, etal., Urol J. 2007 Summer;4(3):151-4.
22. Identification of patients with transitional cell carcinoma of the bladder overexpressing ErbB2, ErbB3, or specific ErbB4 isoforms: real-time reverse transcription-PCR analysis in estimation of ErbB receptor status from cancer patients. Junttila TT, etal., Clin Cancer Res. 2003 Nov 1;9(14):5346-57.
23. The impact of Helicobacter pylori on EGF, EGF receptor, and the c-erb-B2 expression. Jurkowska G, etal., Adv Med Sci. 2014 Sep;59(2):221-6. doi: 10.1016/j.advms.2014.01.006. Epub 2014 Jun 9.
24. Identification of target antigens in specific immunotherapy for renal cell carcinoma. Komohara Y, etal., J Urol. 2007 Mar;177(3):1157-62.
25. Correlation between human epidermal growth factor receptor family (EGFR, HER2, HER3, HER4), phosphorylated Akt (P-Akt), and clinical outcomes after radiation therapy in carcinoma of the cervix. Lee CM, etal., Gynecol Oncol. 2005 Nov;99(2):415-21. Epub 2005 Sep 12.
26. Gene-specific inhibition of breast carcinoma in BALB-neuT mice by active immunization with rat Neu or human ErbB receptors. Masuelli L, etal., Int J Oncol. 2007 Feb;30(2):381-92.
27. Potential for HER-2/neu molecular targeted therapy for invasive bladder carcinoma: comparative study of immunohistochemistry and fluorescent in situ hybridization. Matsubara H, etal., Oncol Rep. 2008 Jan;19(1):57-63.
28. Elevated serum levels of the c-erbB-2 encoded oncoprotein fragment in cases of pure preeclampsia and HELLP syndrome. Meden H, etal., J Obstet Gynaecol Res. 1997 Apr;23(2):213-7.
29. The relation between survival and expression of HER1 and HER2 depends on the expression of HER3 and HER4: a study in bladder cancer patients. Memon AA, etal., Br J Cancer. 2006 Jun 5;94(11):1703-9.
30. Protein expression of c-erbB-2 and p53 in normal ducts, ductal carcinoma in situ and invasive carcinoma of the same breast. Menezes MV, etal., Sao Paulo Med J. 2006 May 4;124(3):121-4.
31. Engagement of overexpressed Her2 with GEP100 induces autonomous invasive activities and provides a biomarker for metastases of lung adenocarcinoma. Menju T, etal., PLoS One. 2011;6(9):e25301. doi: 10.1371/journal.pone.0025301. Epub 2011 Sep 22.
32. Novel HER2 selective tyrosine kinase inhibitor, TAK-165, inhibits bladder, kidney and androgen-independent prostate cancer in vitro and in vivo. Nagasawa J, etal., Int J Urol. 2006 May;13(5):587-92.
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PMID:32458657   PMID:32460013   PMID:32461977   PMID:32478891   PMID:32495860   PMID:32502026   PMID:32511274   PMID:32527755   PMID:32532810   PMID:32535106   PMID:32544101   PMID:32546648  
PMID:32591879   PMID:32592354   PMID:32627883   PMID:32638235   PMID:32638236   PMID:32645243   PMID:32649220   PMID:32669362   PMID:32690611   PMID:32709539   PMID:32727899   PMID:32736336  
PMID:32757330   PMID:32763505   PMID:32780321   PMID:32782013   PMID:32805517   PMID:32815671   PMID:32825958   PMID:32843527   PMID:32843720   PMID:32848211   PMID:32856866   PMID:32877691  
PMID:32890875   PMID:32891647   PMID:32896428   PMID:32917240   PMID:32928586   PMID:32929084   PMID:32929653   PMID:32938620   PMID:32945388   PMID:32945425   PMID:32989258   PMID:32998149  
PMID:33008833   PMID:33010699   PMID:33034269   PMID:33037285   PMID:33038052   PMID:33038514   PMID:33040794   PMID:33042286   PMID:33059614   PMID:33077919   PMID:33085848   PMID:33089969  
PMID:33109210   PMID:33112563   PMID:33112672   PMID:33112958   PMID:33141767   PMID:33151397   PMID:33152285   PMID:33152824   PMID:33161227   PMID:33178818   PMID:33193388   PMID:33202212  
PMID:33208750   PMID:33224971   PMID:33253925   PMID:33259892   PMID:33260837   PMID:33275218   PMID:33285627   PMID:33302456   PMID:33331402   PMID:33389401   PMID:33412308   PMID:33416166  
PMID:33419763   PMID:33420373   PMID:33423127   PMID:33433408   PMID:33433410   PMID:33433414   PMID:33447879   PMID:33466691   PMID:33472043   PMID:33479447   PMID:33485488   PMID:33497358  
PMID:33506276   PMID:33507673   PMID:33529238   PMID:33538993   PMID:33544932   PMID:33576439   PMID:33577030   PMID:33589591   PMID:33605797   PMID:33640859   PMID:33641065   PMID:33658012  
PMID:33670586   PMID:33675995   PMID:33679691   PMID:33723149   PMID:33739786   PMID:33741354   PMID:33753865   PMID:33763657   PMID:33765474   PMID:33795719   PMID:33834328   PMID:33845483  
PMID:33852330   PMID:33854045   PMID:33859761   PMID:33896090   PMID:33907275   PMID:33934230   PMID:33947960   PMID:33947961   PMID:33951110   PMID:33952501   PMID:33961781   PMID:33961795  
PMID:33985511   PMID:33990570   PMID:33995662   PMID:33995806   PMID:34006643   PMID:34007022   PMID:34038440   PMID:34057113   PMID:34079125   PMID:34110646   PMID:34111378   PMID:34136934  
PMID:34153400   PMID:34158475   PMID:34171264   PMID:34171619   PMID:34190995   PMID:34215766   PMID:34253928   PMID:34257600   PMID:34363097   PMID:34365852   PMID:34370552   PMID:34394249  
PMID:34396441   PMID:34431365   PMID:34445092   PMID:34487971   PMID:34502529   PMID:34528580   PMID:34533670   PMID:34551235   PMID:34560418   PMID:34583287   PMID:34590151   PMID:34591612  
PMID:34607757   PMID:34634565   PMID:34644733   PMID:34650042   PMID:34664433   PMID:34680138   PMID:34687790   PMID:34703009   PMID:34737261   PMID:34743185   PMID:34759323   PMID:34831465  
PMID:34850767   PMID:34857952   PMID:34881777   PMID:34901275   PMID:34907725   PMID:34949663   PMID:34972830   PMID:34996485   PMID:34997908   PMID:35025003   PMID:35032815   PMID:35050711  
PMID:35074962   PMID:35074963   PMID:35092510   PMID:35095867   PMID:35108525   PMID:35123909   PMID:35125452   PMID:35126865   PMID:35158152   PMID:35163585   PMID:35171661   PMID:35177646  
PMID:35190802   PMID:35194100   PMID:35198878   PMID:35203384   PMID:35241527   PMID:35281032   PMID:35297649   PMID:35322023   PMID:35337019   PMID:35343383   PMID:35384245   PMID:35435368  
PMID:35436143   PMID:35477796   PMID:35500561   PMID:35524932   PMID:35562663   PMID:35563538   PMID:35582767   PMID:35611517   PMID:35612280   PMID:35654814   PMID:35696571   PMID:35723064  
PMID:35737367   PMID:35747498   PMID:35748872   PMID:35760678   PMID:35777127   PMID:35777267   PMID:35834632   PMID:35864174   PMID:35900578   PMID:35902644   PMID:35902718   PMID:35911441  
PMID:35918102   PMID:35928894   PMID:35933456   PMID:35969799   PMID:36000702   PMID:36056635   PMID:36076950   PMID:36107428   PMID:36114006   PMID:36114027   PMID:36116830   PMID:36123933  
PMID:36217030   PMID:36240473   PMID:36251951   PMID:36279628   PMID:36281655   PMID:36308181   PMID:36372832   PMID:36397236   PMID:36410093   PMID:36411648   PMID:36445330   PMID:36453435  
PMID:36471172   PMID:36510980   PMID:36516643   PMID:36543142   PMID:36563519   PMID:36566135   PMID:36585180   PMID:36591290   PMID:36602696   PMID:36632463   PMID:36694240   PMID:36708564  
PMID:36737799   PMID:36811310   PMID:36828346   PMID:36835131   PMID:36841435   PMID:36931259   PMID:36939053   PMID:37003074   PMID:37012401   PMID:37055161   PMID:37094656   PMID:37101199  
PMID:37119646   PMID:37151285   PMID:37169743   PMID:37175916   PMID:37184775   PMID:37212690   PMID:37264265   PMID:37265453   PMID:37267036   PMID:37272756   PMID:37295980   PMID:37336194  
PMID:37340393   PMID:37373090   PMID:37406458   PMID:37415414   PMID:37422821   PMID:37433993   PMID:37460683   PMID:37479943   PMID:37537510   PMID:37543027   PMID:37555322   PMID:37558129  
PMID:37639064   PMID:37672800   PMID:37848981   PMID:37862796   PMID:37897865   PMID:38029652   PMID:38040921   PMID:38050871   PMID:38117590   PMID:38335419   PMID:38335502   PMID:38351535  
PMID:38374017   PMID:38441358  


Genomics

Comparative Map Data
ERBB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381739,688,094 - 39,728,658 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1739,687,914 - 39,730,426 (+)EnsemblGRCh38hg38GRCh38
GRCh371737,844,347 - 37,884,911 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361735,097,919 - 35,138,441 (+)NCBINCBI36Build 36hg18NCBI36
Build 341735,109,779 - 35,138,441NCBI
Celera1734,504,111 - 34,544,648 (+)NCBICelera
Cytogenetic Map17q12NCBI
HuRef1733,638,318 - 33,678,659 (+)NCBIHuRef
CHM1_11738,080,177 - 38,120,667 (+)NCBICHM1_1
T2T-CHM13v2.01740,551,660 - 40,592,218 (+)NCBIT2T-CHM13v2.0
Erbb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391198,303,310 - 98,328,542 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1198,303,296 - 98,328,542 (+)EnsemblGRCm39 Ensembl
GRCm381198,412,484 - 98,437,716 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1198,412,470 - 98,437,716 (+)EnsemblGRCm38mm10GRCm38
MGSCv371198,273,798 - 98,299,030 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361198,228,574 - 98,253,806 (+)NCBIMGSCv36mm8
Celera11108,066,701 - 108,091,920 (+)NCBICelera
Cytogenetic Map11DNCBI
cM Map1161.75NCBI
Erbb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81083,907,491 - 83,931,365 (+)NCBIGRCr8
mRatBN7.21083,411,197 - 83,435,078 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1083,411,313 - 83,435,078 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1088,355,647 - 88,379,493 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01087,853,732 - 87,877,578 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01083,246,384 - 83,270,230 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01086,367,596 - 86,391,728 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1086,367,596 - 86,391,728 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01086,163,531 - 86,187,663 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41087,219,157 - 87,242,919 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11087,233,617 - 87,256,603 (+)NCBI
Celera1082,158,844 - 82,182,518 (+)NCBICelera
Cytogenetic Map10q31NCBI
Erbb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545114,442,816 - 14,459,379 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545114,442,816 - 14,456,009 (+)NCBIChiLan1.0ChiLan1.0
ERBB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21925,226,889 - 25,267,330 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11727,121,704 - 27,162,125 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01717,560,337 - 17,600,808 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11717,777,434 - 17,817,735 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1717,777,434 - 17,805,862 (-)Ensemblpanpan1.1panPan2
ERBB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1922,760,373 - 22,785,367 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl922,759,256 - 22,785,294 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha922,233,500 - 22,257,730 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0923,553,798 - 23,578,971 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl923,553,919 - 23,606,691 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1922,327,366 - 22,351,570 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0922,588,363 - 22,612,587 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0922,713,484 - 22,737,693 (-)NCBIUU_Cfam_GSD_1.0
Erbb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560222,165,101 - 22,188,079 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649014,887,043 - 14,909,956 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649014,887,062 - 14,910,038 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERBB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1222,590,725 - 22,621,351 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11222,591,621 - 22,621,384 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21223,049,123 - 23,069,842 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ERBB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11666,435,488 - 66,464,993 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1666,434,251 - 66,464,952 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607737,344,961 - 37,374,824 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Erbb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247953,373,000 - 3,391,602 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247953,373,313 - 3,391,509 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ERBB2
524 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
NM_004448.4(ERBB2):c.1963A>G (p.Ile655Val) single nucleotide variant ERBB2 POLYMORPHISM [RCV000014887]|not provided [RCV001511302]|not specified [RCV000120744] Chr17:39723335 [GRCh38]
Chr17:37879588 [GRCh37]
Chr17:17q12
pathogenic|benign|not provided
NM_004448.4(ERBB2):c.1960A>G (p.Ile654Val) single nucleotide variant ERBB2 POLYMORPHISM [RCV000014888]|not provided [RCV001513234]|not specified [RCV000120743] Chr17:39723332 [GRCh38]
Chr17:37879585 [GRCh37]
Chr17:17q12
benign|likely benign|not provided
NM_004448.4(ERBB2):c.2313_2324dup (p.Tyr772_Ala775dup) duplication Lung adenocarcinoma [RCV000014889]|Non-small cell lung carcinoma [RCV000038123] Chr17:39724728..39724729 [GRCh38]
Chr17:37880981..37880982 [GRCh37]
Chr17:17q12
pathogenic|likely pathogenic|other
NM_004448.4(ERBB2):c.2328_2336dup (p.Val777_Ser779dup) duplication Lung adenocarcinoma [RCV000014890] Chr17:39724745..39724746 [GRCh38]
Chr17:37880998..37880999 [GRCh37]
Chr17:17q12
pathogenic|other
NM_004448.4(ERBB2):c.2263_2264delinsCC (p.Leu755Pro) indel Breast neoplasm [RCV000420852]|Gastric adenocarcinoma [RCV000433907]|Lung adenocarcinoma [RCV000014891]|Malignant melanoma of skin [RCV000436720]|Malignant neoplasm of body of uterus [RCV000425374]|Neoplasm of the large intestine [RCV000427611]|Papillary renal cell carcinoma, sporadic [RCV000443258]|Transitional cell carcinoma of the bladder [RCV000426475] Chr17:39723966..39723967 [GRCh38]
Chr17:37880219..37880220 [GRCh37]
Chr17:17q12
pathogenic|likely pathogenic|other
NM_004448.4(ERBB2):c.2740G>A (p.Glu914Lys) single nucleotide variant Glioma susceptibility 1 [RCV000014892] Chr17:39725721 [GRCh38]
Chr17:37881974 [GRCh37]
Chr17:17q12
pathogenic|other
NM_004448.4(ERBB2):c.2326G>A (p.Gly776Ser) single nucleotide variant Gastric adenocarcinoma [RCV000421481]|Gastric cancer [RCV000014893]|Neoplasm [RCV000439112] Chr17:39724744 [GRCh38]
Chr17:37880997 [GRCh37]
Chr17:17q12
pathogenic|likely pathogenic|other
NM_004448.4(ERBB2):c.2570A>G (p.Asn857Ser) single nucleotide variant Neoplasm of ovary [RCV000014894]|Ovarian adenocarcinoma [RCV000427276] Chr17:39725125 [GRCh38]
Chr17:37881378 [GRCh37]
Chr17:17q12
pathogenic|likely pathogenic|other
NM_001005862.2(ERBB2):c.2221_2232dupGCATACGTGATG (p.Ala745_Gly746insTyrValMetAla) duplication Non-small cell lung cancer [RCV000038122] Chr17:39724729..39724740 [GRCh38]
Chr17:37880982..37880993 [GRCh37]
Chr17:17q12
likely pathogenic
ERBB2:c.2223_2234dupATACGTGATGGC (p.Gly746delinsTyrValMetAla) duplication Non-small cell lung cancer [RCV000038123] Chr17:39724731..39724742 [GRCh38]
Chr17:37880984..37880995 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2314_2325dup (p.Tyr772_Ala775dup) duplication Non-small cell lung carcinoma [RCV000038124] Chr17:39724731..39724732 [GRCh38]
Chr17:37880984..37880985 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2320del (p.Met774fs) deletion Non-small cell lung carcinoma [RCV000038125] Chr17:39724738 [GRCh38]
Chr17:37880991 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2326_2327insTCT (p.Gly776delinsValCys) insertion not specified [RCV000038126] Chr17:39724744..39724745 [GRCh38]
Chr17:37880997..37880998 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2326_2327insTGT (p.Gly776delinsValCys) insertion Breast neoplasm [RCV000431743]|Non-small cell lung carcinoma [RCV000038127] Chr17:39724744..39724745 [GRCh38]
Chr17:37880997..37880998 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2326_2327insTTT (p.Gly776delinsValCys) insertion Non-small cell lung carcinoma [RCV000038128] Chr17:39724744..39724745 [GRCh38]
Chr17:37880997..37880998 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2326delinsTTAT (p.Gly776delinsLeuCys) indel Non-small cell lung carcinoma [RCV000038129] Chr17:39724744 [GRCh38]
Chr17:37880997 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2329G>T (p.Val777Leu) single nucleotide variant Breast neoplasm [RCV000428506]|Gastric adenocarcinoma [RCV000417571]|Neoplasm of the large intestine [RCV000435242]|not specified [RCV000038130] Chr17:39724747 [GRCh38]
Chr17:37881000 [GRCh37]
Chr17:17q12
pathogenic|likely pathogenic|uncertain significance
NM_004448.4(ERBB2):c.2331_2339dup (p.Gly778_Pro780dup) duplication Non-small cell lung carcinoma [RCV000038131] Chr17:39724748..39724749 [GRCh38]
Chr17:37881001..37881002 [GRCh37]
Chr17:17q12
pathogenic|likely pathogenic
NM_004448.4(ERBB2):c.2332_2340dup (p.Gly778_Pro780dup) duplication Non-small cell lung carcinoma [RCV000038132] Chr17:39724749..39724750 [GRCh38]
Chr17:37881002..37881003 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2443G>A (p.Gly815Arg) single nucleotide variant not provided [RCV002054687]|not specified [RCV000038133] Chr17:39724861 [GRCh38]
Chr17:37881114 [GRCh37]
Chr17:17q12
pathogenic|benign|likely benign
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31
pathogenic
NM_004448.4(ERBB2):c.1471C>T (p.Gln491Ter) single nucleotide variant Malignant melanoma [RCV000063205] Chr17:39715897 [GRCh38]
Chr17:37872150 [GRCh37]
Chr17:35125676 [NCBI36]
Chr17:17q12
uncertain significance|not provided
NM_004448.4(ERBB2):c.2494-3C>T single nucleotide variant Familial cancer of breast [RCV000119345]|not provided [RCV002514597] Chr17:39725046 [GRCh38]
Chr17:37881299 [GRCh37]
Chr17:17q12
uncertain significance|not provided
NM_004448.4(ERBB2):c.2506C>T (p.Leu836=) single nucleotide variant Endometrial carcinoma [RCV000119346] Chr17:39725061 [GRCh38]
Chr17:37881314 [GRCh37]
Chr17:17q12
not provided
NM_004448.4(ERBB2):c.2520G>A (p.Arg840=) single nucleotide variant Familial cancer of breast [RCV000119347] Chr17:39725075 [GRCh38]
Chr17:37881328 [GRCh37]
Chr17:17q12
not provided
NM_004448.4(ERBB2):c.2568C>T (p.Pro856=) single nucleotide variant Familial cancer of breast [RCV000119348] Chr17:39725123 [GRCh38]
Chr17:37881376 [GRCh37]
Chr17:17q12
not provided
NM_004448.4(ERBB2):c.2605C>T (p.Leu869=) single nucleotide variant Neoplasm of ovary [RCV000119349] Chr17:39725160 [GRCh38]
Chr17:37881413 [GRCh37]
Chr17:17q12
not provided
NM_004448.4(ERBB2):c.3146G>A (p.Ser1049Asn) single nucleotide variant Familial cancer of breast [RCV000119365] Chr17:39726990 [GRCh38]
Chr17:37883243 [GRCh37]
Chr17:17q12
not provided
NM_004448.4(ERBB2):c.2535C>T (p.Asp845=) single nucleotide variant Familial cancer of breast [RCV000119789] Chr17:39725090 [GRCh38]
Chr17:37881343 [GRCh37]
Chr17:17q12
not provided
NM_004448.4(ERBB2):c.43C>T (p.Leu15Phe) single nucleotide variant not provided [RCV001439480]|not specified [RCV000120736] Chr17:39700281 [GRCh38]
Chr17:37856534 [GRCh37]
Chr17:17q12
likely benign|not provided
NM_004448.4(ERBB2):c.1157C>A (p.Ala386Asp) single nucleotide variant not provided [RCV000893343]|not specified [RCV000120737] Chr17:39715294 [GRCh38]
Chr17:37871547 [GRCh37]
Chr17:17q12
benign|likely benign|not provided
NM_004448.4(ERBB2):c.1169C>T (p.Ala390Val) single nucleotide variant not specified [RCV000120738] Chr17:39715306 [GRCh38]
Chr17:37871559 [GRCh37]
Chr17:17q12
not provided
NM_004448.4(ERBB2):c.1231T>G (p.Tyr411Asp) single nucleotide variant not specified [RCV000120739] Chr17:39715454 [GRCh38]
Chr17:37871707 [GRCh37]
Chr17:17q12
not provided
NM_004448.4(ERBB2):c.1466C>T (p.Pro489Leu) single nucleotide variant not provided [RCV001048437]|not specified [RCV000120740] Chr17:39715892 [GRCh38]
Chr17:37872145 [GRCh37]
Chr17:17q12
uncertain significance|not provided
NM_004448.4(ERBB2):c.1356G>T (p.Trp452Cys) single nucleotide variant not provided [RCV000962496]|not specified [RCV000120741] Chr17:39715782 [GRCh38]
Chr17:37872035 [GRCh37]
Chr17:17q12
benign|not provided
NM_004448.4(ERBB2):c.1793C>A (p.Ala598Asp) single nucleotide variant not provided [RCV001302321]|not specified [RCV000120742] Chr17:39717375 [GRCh38]
Chr17:37873628 [GRCh37]
Chr17:17q12
uncertain significance|not provided
NM_004448.4(ERBB2):c.133A>G (p.Met45Val) single nucleotide variant not specified [RCV000120745] Chr17:39707049 [GRCh38]
Chr17:37863302 [GRCh37]
Chr17:17q12
not provided
NM_004448.4(ERBB2):c.140G>A (p.Arg47His) single nucleotide variant not provided [RCV001517014]|not specified [RCV000120746] Chr17:39707056 [GRCh38]
Chr17:37863309 [GRCh37]
Chr17:17q12
benign|not provided
NM_004448.4(ERBB2):c.93G>T (p.Met31Ile) single nucleotide variant not provided [RCV001464145]|not specified [RCV000120747] Chr17:39707009 [GRCh38]
Chr17:37863262 [GRCh37]
Chr17:17q12
likely benign|not provided
NM_004448.4(ERBB2):c.2440C>T (p.Arg814Cys) single nucleotide variant not specified [RCV000120748] Chr17:39724858 [GRCh38]
Chr17:37881111 [GRCh37]
Chr17:17q12
not provided
NM_004448.4(ERBB2):c.2790G>T (p.Glu930Asp) single nucleotide variant not provided [RCV001515034]|not specified [RCV000120749] Chr17:39725771 [GRCh38]
Chr17:37882024 [GRCh37]
Chr17:17q12
benign|likely benign|not provided
NM_004448.4(ERBB2):c.3182T>C (p.Leu1061Pro) single nucleotide variant not provided [RCV001364689]|not specified [RCV000120750] Chr17:39727317 [GRCh38]
Chr17:37883570 [GRCh37]
Chr17:17q12
uncertain significance|not provided
NM_004448.4(ERBB2):c.3427C>A (p.Pro1143Thr) single nucleotide variant not specified [RCV000120751] Chr17:39727703 [GRCh38]
Chr17:37883956 [GRCh37]
Chr17:17q12
not provided
NM_004448.4(ERBB2):c.3428C>T (p.Pro1143Leu) single nucleotide variant not provided [RCV002515853]|not specified [RCV000120752] Chr17:39727704 [GRCh38]
Chr17:37883957 [GRCh37]
Chr17:17q12
uncertain significance|not provided
NM_004448.4(ERBB2):c.3508C>G (p.Pro1170Ala) single nucleotide variant not provided [RCV001520147]|not specified [RCV000120753] Chr17:39727784 [GRCh38]
Chr17:37884037 [GRCh37]
Chr17:17q12
benign|not provided
NM_004448.4(ERBB2):c.3620C>T (p.Pro1207Leu) single nucleotide variant not provided [RCV001854611]|not specified [RCV000120754] Chr17:39727896 [GRCh38]
Chr17:37884149 [GRCh37]
Chr17:17q12
uncertain significance|not provided
NM_004448.4(ERBB2):c.3647C>A (p.Ala1216Asp) single nucleotide variant not provided [RCV000881822]|not specified [RCV000120755] Chr17:39727923 [GRCh38]
Chr17:37884176 [GRCh37]
Chr17:17q12
benign|likely benign|not provided
NM_004448.4(ERBB2):c.3482G>A (p.Arg1161Gln) single nucleotide variant not provided [RCV001512300]|not specified [RCV000120756] Chr17:39727758 [GRCh38]
Chr17:37884011 [GRCh37]
Chr17:17q12
benign|not provided
NM_004448.4(ERBB2):c.3689G>T (p.Arg1230Leu) single nucleotide variant not provided [RCV001854612]|not specified [RCV000120757] Chr17:39727965 [GRCh38]
Chr17:37884218 [GRCh37]
Chr17:17q12
uncertain significance|not provided
NM_004448.4(ERBB2):c.236A>C (p.Glu79Ala) single nucleotide variant not provided [RCV000901748]|not specified [RCV000120758] Chr17:39708331 [GRCh38]
Chr17:37864584 [GRCh37]
Chr17:17q12
likely benign|not provided
NM_004448.4(ERBB2):c.383C>G (p.Pro128Arg) single nucleotide variant not provided [RCV002517586]|not specified [RCV000120759] Chr17:39708478 [GRCh38]
Chr17:37864731 [GRCh37]
Chr17:17q12
uncertain significance|not provided
NM_004448.4(ERBB2):c.433C>T (p.Leu145Phe) single nucleotide variant not provided [RCV001461359]|not specified [RCV000120760] Chr17:39708528 [GRCh38]
Chr17:37864781 [GRCh37]
Chr17:17q12
likely benign|not provided
NM_004448.4(ERBB2):c.428G>A (p.Arg143Gln) single nucleotide variant not provided [RCV001200119]|not specified [RCV000120761] Chr17:39708523 [GRCh38]
Chr17:37864776 [GRCh37]
Chr17:17q12
benign|likely benign|not provided
NM_004448.4(ERBB2):c.734C>T (p.Thr245Met) single nucleotide variant not provided [RCV002517587]|not specified [RCV000120762] Chr17:39710176 [GRCh38]
Chr17:37866429 [GRCh37]
Chr17:17q12
uncertain significance|not provided
NM_004448.4(ERBB2):c.1021+19C>T single nucleotide variant not provided [RCV002055373]|not specified [RCV000122380] Chr17:39712066 [GRCh38]
Chr17:37868319 [GRCh37]
Chr17:17q12
benign|not provided
NM_004448.4(ERBB2):c.1021+31C>T single nucleotide variant not specified [RCV000122381] Chr17:39712078 [GRCh38]
Chr17:37868331 [GRCh37]
Chr17:17q12
not provided
NM_004448.4(ERBB2):c.1021+48C>T single nucleotide variant not specified [RCV000122382] Chr17:39712095 [GRCh38]
Chr17:37868348 [GRCh37]
Chr17:17q12
not provided
NM_001289936.2(ERBB2):c.22C>A (p.Pro8Thr) single nucleotide variant not specified [RCV000122379] Chr17:39699581 [GRCh38]
Chr17:37855834 [GRCh37]
Chr17:17q12
not provided
NM_004448.4(ERBB2):c.3086G>C (p.Gly1029Ala) single nucleotide variant not provided [RCV001348080] Chr17:39726930 [GRCh38]
Chr17:37883183 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2706G>C (p.Gln902His) single nucleotide variant Malignant tumor of prostate [RCV000149158] Chr17:39725383 [GRCh38]
Chr17:37881636 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1610del (p.Gly537fs) deletion Colorectal cancer [RCV001293826] Chr17:39716394 [GRCh38]
Chr17:37872647 [GRCh37]
Chr17:17q12
pathogenic
GRCh38/hg38 17q12(chr17:39036037-39694679)x3 copy number gain See cases [RCV000140753] Chr17:39036037..39694679 [GRCh38]
Chr17:37192290..37850932 [GRCh37]
Chr17:34445816..35104458 [NCBI36]
Chr17:17q12
likely benign|uncertain significance
NM_004448.4(ERBB2):c.2325_2326insTCCGTGATGGCT (p.Ala775_Gly776insSerValMetAla) insertion Non-small cell lung carcinoma [RCV000150653] Chr17:39724733..39724734 [GRCh38]
Chr17:37880996..37880997 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2327G>T (p.Gly776Val) single nucleotide variant not specified [RCV000150654] Chr17:39724745 [GRCh38]
Chr17:37880998 [GRCh37]
Chr17:17q12
not provided
NM_004448.4(ERBB2):c.2324_2325insCTCCGTGATGGC (p.Ala775_Gly776insSerValMetAla) insertion Non-small cell lung carcinoma [RCV000156384] Chr17:39724733..39724734 [GRCh38]
Chr17:37880995..37880996 [GRCh37]
Chr17:17q12
likely pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
NM_004448.4(ERBB2):c.307C>T (p.Arg103Ter) single nucleotide variant Inborn genetic diseases [RCV000623480] Chr17:39708402 [GRCh38]
Chr17:37864655 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2686C>T (p.Arg896Cys) single nucleotide variant Breast neoplasm [RCV000424169] Chr17:39725363 [GRCh38]
Chr17:37881616 [GRCh37]
Chr17:17q12
pathogenic
NM_004448.4(ERBB2):c.926G>C (p.Gly309Ala) single nucleotide variant Breast neoplasm [RCV000428908] Chr17:39711952 [GRCh38]
Chr17:37868205 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2333_2334insGCTCCCCAG (p.Gly778_Ser779insLeuProSer) insertion Breast neoplasm [RCV000429589] Chr17:39724750..39724751 [GRCh38]
Chr17:37881003..37881004 [GRCh37]
Chr17:17q12
pathogenic
NM_004448.4(ERBB2):c.2264_2278del (p.Leu755_Thr759del) deletion Breast neoplasm [RCV000432652] Chr17:39723966..39723980 [GRCh38]
Chr17:37880219..37880233 [GRCh37]
Chr17:17q12
pathogenic
NM_004448.4(ERBB2):c.2329G>C (p.Val777Leu) single nucleotide variant Breast neoplasm [RCV000439788] Chr17:39724747 [GRCh38]
Chr17:37881000 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2354T>C (p.Leu785Pro) single nucleotide variant Breast neoplasm [RCV000442075] Chr17:39724772 [GRCh38]
Chr17:37881025 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2263T>A (p.Leu755Met) single nucleotide variant Breast neoplasm [RCV000431643]|Gastric adenocarcinoma [RCV000439036]|Malignant melanoma of skin [RCV000432868]|Malignant neoplasm of body of uterus [RCV000438379]|Neoplasm of the large intestine [RCV000422582]|Papillary renal cell carcinoma, sporadic [RCV000421368]|Transitional cell carcinoma of the bladder [RCV000443340] Chr17:39723966 [GRCh38]
Chr17:37880219 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2329G>A (p.Val777Met) single nucleotide variant Breast neoplasm [RCV000439665]|Gastric adenocarcinoma [RCV000422009]|Neoplasm of the large intestine [RCV000428744] Chr17:39724747 [GRCh38]
Chr17:37881000 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile) single nucleotide variant Breast neoplasm [RCV000423067]|Gallbladder carcinoma [RCV000433354]|Gastric adenocarcinoma [RCV000440770]|Malignant neoplasm of body of uterus [RCV000428793]|Neoplasm of the large intestine [RCV000439690]|Pancreatic adenocarcinoma [RCV000444555]|Uterine carcinosarcoma [RCV000422021]|not provided [RCV001861475] Chr17:39725079 [GRCh38]
Chr17:37881332 [GRCh37]
Chr17:17q12
pathogenic|likely pathogenic|uncertain significance
NM_004448.4(ERBB2):c.926G>A (p.Gly309Glu) single nucleotide variant Lung adenocarcinoma [RCV000439549]|Malignant tumor of urinary bladder [RCV003332168] Chr17:39711952 [GRCh38]
Chr17:37868205 [GRCh37]
Chr17:17q12
pathogenic|likely pathogenic
NM_004448.4(ERBB2):c.2264T>C (p.Leu755Ser) single nucleotide variant Breast neoplasm [RCV000435086]|Gastric adenocarcinoma [RCV000435324]|Malignant melanoma of skin [RCV000428572]|Malignant neoplasm of body of uterus [RCV000417433]|Neoplasm of the large intestine [RCV000427447]|Papillary renal cell carcinoma, sporadic [RCV000418445]|Transitional cell carcinoma of the bladder [RCV000429126] Chr17:39723967 [GRCh38]
Chr17:37880220 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.929C>T (p.Ser310Phe) single nucleotide variant Breast neoplasm [RCV000434976]|Gastric adenocarcinoma [RCV000443823]|Lung adenocarcinoma [RCV000426026]|Neoplasm [RCV000442810]|Neoplasm of the large intestine [RCV000432337]|Neoplasm of uterine cervix [RCV000441701]|Ovarian serous cystadenocarcinoma [RCV000417717]|Squamous cell carcinoma of the head and neck [RCV000426903]|Squamous cell carcinoma of the skin [RCV000433436]|Transitional cell carcinoma of the bladder [RCV000422702] Chr17:39711955 [GRCh38]
Chr17:37868208 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2033G>A (p.Arg678Gln) single nucleotide variant Breast neoplasm [RCV000424585]|Gastric adenocarcinoma [RCV000438950]|Malignant neoplasm of body of uterus [RCV000417832]|Neoplasm of the large intestine [RCV000437885]|Prostate adenocarcinoma [RCV000428060]|Transitional cell carcinoma of the bladder [RCV000420241] Chr17:39723405 [GRCh38]
Chr17:37879658 [GRCh37]
Chr17:17q12
likely pathogenic|not provided
NM_004448.4(ERBB2):c.929C>A (p.Ser310Tyr) single nucleotide variant Breast neoplasm [RCV000428547]|Gastric adenocarcinoma [RCV000417861]|Lung adenocarcinoma [RCV000423792]|Neoplasm [RCV000438553]|Neoplasm of the large intestine [RCV000434482]|Neoplasm of uterine cervix [RCV000436218]|Ovarian serous cystadenocarcinoma [RCV000440989]|Squamous cell carcinoma of the head and neck [RCV000427912]|Squamous cell carcinoma of the skin [RCV000418953]|Transitional cell carcinoma of the bladder [RCV000425505]|not provided [RCV001311879] Chr17:39711955 [GRCh38]
Chr17:37868208 [GRCh37]
Chr17:17q12
pathogenic|likely pathogenic
NM_004448.4(ERBB2):c.2264T>G (p.Leu755Trp) single nucleotide variant Breast neoplasm [RCV000425422]|Gastric adenocarcinoma [RCV000426066]|Malignant melanoma of skin [RCV000435694]|Malignant neoplasm of body of uterus [RCV000442700]|Neoplasm of the large intestine [RCV000417866]|Papillary renal cell carcinoma, sporadic [RCV000445218]|Transitional cell carcinoma of the bladder [RCV000432853] Chr17:39723967 [GRCh38]
Chr17:37880220 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2305G>T (p.Asp769Tyr) single nucleotide variant Breast neoplasm [RCV000427352]|Carcinoma of esophagus [RCV000437580]|Gastric adenocarcinoma [RCV000443774]|Neoplasm of uterine cervix [RCV000438329]|Transitional cell carcinoma of the bladder [RCV000418272] Chr17:39724008 [GRCh38]
Chr17:37880261 [GRCh37]
Chr17:17q12
pathogenic|likely pathogenic
NM_004448.4(ERBB2):c.2305G>A (p.Asp769Asn) single nucleotide variant Breast neoplasm [RCV000431162]|Carcinoma of esophagus [RCV000419212]|Gastric adenocarcinoma [RCV000420244]|Neoplasm of uterine cervix [RCV000441427]|Transitional cell carcinoma of the bladder [RCV000430490] Chr17:39724008 [GRCh38]
Chr17:37880261 [GRCh37]
Chr17:17q12
likely pathogenic
NM_004448.4(ERBB2):c.2305G>C (p.Asp769His) single nucleotide variant Breast neoplasm [RCV000445220]|Carcinoma of esophagus [RCV000423455]|Gastric adenocarcinoma [RCV000426351]|Neoplasm of uterine cervix [RCV000444643]|Transitional cell carcinoma of the bladder [RCV000433752] Chr17:39724008 [GRCh38]
Chr17:37880261 [GRCh37]
Chr17:17q12
pathogenic|likely pathogenic
NM_004448.3:c.2844T>G single nucleotide variant Adenocarcinoma of lung [RCV000491283] Chr17:17q12 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_004448.4(ERBB2):c.2606T>G (p.Leu869Arg) single nucleotide variant Lung adenocarcinoma [RCV000491283] Chr17:39725161 [GRCh38]
Chr17:37881414 [GRCh37]
Chr17:17q12
pathogenic
NM_004448.4(ERBB2):c.1765C>G (p.His589Asp) single nucleotide variant Inborn genetic diseases [RCV003291065] Chr17:39717347 [GRCh38]
Chr17:37873600 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:37313691-37868516)x3 copy number gain See cases [RCV000512247] Chr17:37313691..37868516 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q12(chr17:36972794-38033708)x4 copy number gain not provided [RCV000683933] Chr17:36972794..38033708 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2129C>T (p.Ala710Val) single nucleotide variant Visceral neuropathy, familial, 2, autosomal recessive [RCV001548738] Chr17:39723581 [GRCh38]
Chr17:37879834 [GRCh37]
Chr17:17q12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q12(chr17:37387413-37879941)x3 copy number gain not provided [RCV000739510] Chr17:37387413..37879941 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.901+7G>T single nucleotide variant not provided [RCV000895673] Chr17:39710488 [GRCh38]
Chr17:37866741 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.1569A>G (p.Pro523=) single nucleotide variant not provided [RCV000897335] Chr17:39716356 [GRCh38]
Chr17:37872609 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.3375T>A (p.Asp1125Glu) single nucleotide variant not provided [RCV001058118] Chr17:39727510 [GRCh38]
Chr17:37883763 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2826C>T (p.Pro942=) single nucleotide variant not provided [RCV000927368] Chr17:39725807 [GRCh38]
Chr17:37882060 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1738-5C>G single nucleotide variant not provided [RCV000924713] Chr17:39717315 [GRCh38]
Chr17:37873568 [GRCh37]
Chr17:17q12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004448.4(ERBB2):c.3115G>A (p.Ala1039Thr) single nucleotide variant not provided [RCV000884208] Chr17:39726959 [GRCh38]
Chr17:37883212 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3078C>T (p.Pro1026=) single nucleotide variant not provided [RCV000947815] Chr17:39726922 [GRCh38]
Chr17:37883175 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.1326G>T (p.Ser442=) single nucleotide variant not provided [RCV000879146] Chr17:39715752 [GRCh38]
Chr17:37872005 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.2148A>G (p.Lys716=) single nucleotide variant not provided [RCV000905445] Chr17:39723600 [GRCh38]
Chr17:37879853 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.3437G>A (p.Arg1146Gln) single nucleotide variant not provided [RCV001044532] Chr17:39727713 [GRCh38]
Chr17:37883966 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3250G>T (p.Asp1084Tyr) single nucleotide variant not provided [RCV001067270] Chr17:39727385 [GRCh38]
Chr17:37883638 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3044G>A (p.Gly1015Glu) single nucleotide variant not provided [RCV001044681] Chr17:39726888 [GRCh38]
Chr17:37883141 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2872+4C>T single nucleotide variant not provided [RCV001039517] Chr17:39725857 [GRCh38]
Chr17:37882110 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.365C>T (p.Pro122Leu) single nucleotide variant not provided [RCV001070855] Chr17:39708460 [GRCh38]
Chr17:37864713 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2048G>A (p.Arg683Gln) single nucleotide variant not provided [RCV001043290] Chr17:39723420 [GRCh38]
Chr17:37879673 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1863C>T (p.Gly621=) single nucleotide variant not provided [RCV000898268] Chr17:39717445 [GRCh38]
Chr17:37873698 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3705C>T (p.Ser1235=) single nucleotide variant not provided [RCV000893863] Chr17:39727981 [GRCh38]
Chr17:37884234 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.3549C>T (p.Asp1183=) single nucleotide variant not provided [RCV000891665] Chr17:39727825 [GRCh38]
Chr17:37884078 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3630T>C (p.Pro1210=) single nucleotide variant not provided [RCV000914035] Chr17:39727906 [GRCh38]
Chr17:37884159 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.591G>A (p.Pro197=) single nucleotide variant not provided [RCV000937719] Chr17:39709829 [GRCh38]
Chr17:37866082 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.99G>A (p.Leu33=) single nucleotide variant not provided [RCV000962495] Chr17:39707015 [GRCh38]
Chr17:37863268 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.3694dup (p.Ala1232fs) duplication Neuroepithelial tumor, PATZ1 fusion-positive [RCV003315274] Chr17:39727964..39727965 [GRCh38]
Chr17:37884217..37884218 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1495C>T (p.Arg499Trp) single nucleotide variant not provided [RCV001058128] Chr17:39715921 [GRCh38]
Chr17:37872174 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:37190609-37868002)x3 copy number gain not provided [RCV000849616] Chr17:37190609..37868002 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3484C>T (p.Pro1162Ser) single nucleotide variant not provided [RCV001052397] Chr17:39727760 [GRCh38]
Chr17:37884013 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1294C>T (p.Arg432Trp) single nucleotide variant not provided [RCV001238170] Chr17:39715517 [GRCh38]
Chr17:37871770 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3159+1G>C single nucleotide variant not provided [RCV001241655] Chr17:39727004 [GRCh38]
Chr17:37883257 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1489G>A (p.Ala497Thr) single nucleotide variant not provided [RCV001238548] Chr17:39715915 [GRCh38]
Chr17:37872168 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1772A>T (p.Lys591Met) single nucleotide variant not provided [RCV001225993] Chr17:39717354 [GRCh38]
Chr17:37873607 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2
pathogenic
NM_004448.4(ERBB2):c.1385G>A (p.Gly462Asp) single nucleotide variant not provided [RCV001246618] Chr17:39715811 [GRCh38]
Chr17:37872064 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3114C>T (p.Gly1038=) single nucleotide variant not provided [RCV003104677] Chr17:39726958 [GRCh38]
Chr17:37883211 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.258C>T (p.Ile86=) single nucleotide variant not provided [RCV000910553] Chr17:39708353 [GRCh38]
Chr17:37864606 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.381C>G (p.Thr127=) single nucleotide variant not provided [RCV000879145] Chr17:39708476 [GRCh38]
Chr17:37864729 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.1248G>A (p.Pro416=) single nucleotide variant not provided [RCV000914788] Chr17:39715471 [GRCh38]
Chr17:37871724 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.528C>T (p.Asn176=) single nucleotide variant not provided [RCV000955273] Chr17:39709406 [GRCh38]
Chr17:37865659 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.648G>A (p.Thr216=) single nucleotide variant not provided [RCV000932020] Chr17:39710090 [GRCh38]
Chr17:37866343 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2650-5C>G single nucleotide variant not provided [RCV000901749] Chr17:39725322 [GRCh38]
Chr17:37881575 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.1567C>T (p.Pro523Ser) single nucleotide variant not provided [RCV001239675] Chr17:39716354 [GRCh38]
Chr17:37872607 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.907T>C (p.Tyr303His) single nucleotide variant not provided [RCV001209000] Chr17:39711933 [GRCh38]
Chr17:37868186 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3360G>A (p.Leu1120=) single nucleotide variant not provided [RCV000911416] Chr17:39727495 [GRCh38]
Chr17:37883748 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1317C>A (p.Gly439=) single nucleotide variant not provided [RCV000911928] Chr17:39715743 [GRCh38]
Chr17:37871996 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.345C>T (p.Ala115=) single nucleotide variant not provided [RCV000912803] Chr17:39708440 [GRCh38]
Chr17:37864693 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.3517C>G (p.Leu1173Val) single nucleotide variant not provided [RCV001063752] Chr17:39727793 [GRCh38]
Chr17:37884046 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3016C>T (p.Arg1006Cys) single nucleotide variant not provided [RCV001068861] Chr17:39726860 [GRCh38]
Chr17:37883113 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2317G>A (p.Val773Met) single nucleotide variant not provided [RCV001040267] Chr17:39724735 [GRCh38]
Chr17:37880988 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.593T>C (p.Met198Thr) single nucleotide variant not provided [RCV001036593] Chr17:39709831 [GRCh38]
Chr17:37866084 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.470G>A (p.Arg157Gln) single nucleotide variant not provided [RCV001037196] Chr17:39709348 [GRCh38]
Chr17:37865601 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1518C>T (p.Gly506=) single nucleotide variant not provided [RCV001063238] Chr17:39716305 [GRCh38]
Chr17:37872558 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3521C>G (p.Ser1174Cys) single nucleotide variant not provided [RCV001298407] Chr17:39727797 [GRCh38]
Chr17:37884050 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1990G>T (p.Val664Phe) single nucleotide variant not provided [RCV001342249] Chr17:39723362 [GRCh38]
Chr17:37879615 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.688C>T (p.Pro230Ser) single nucleotide variant not provided [RCV001296263] Chr17:39710130 [GRCh38]
Chr17:37866383 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3591G>A (p.Leu1197=) single nucleotide variant not provided [RCV001433383] Chr17:39727867 [GRCh38]
Chr17:37884120 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3484_3485insG (p.Pro1162fs) insertion Colorectal cancer [RCV001293825] Chr17:39727760..39727761 [GRCh38]
Chr17:37884013..37884014 [GRCh37]
Chr17:17q12
pathogenic
NM_004448.4(ERBB2):c.641G>T (p.Ser214Ile) single nucleotide variant not provided [RCV001303806] Chr17:39709879 [GRCh38]
Chr17:37866132 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3332G>A (p.Arg1111Gln) single nucleotide variant not provided [RCV001337283] Chr17:39727467 [GRCh38]
Chr17:37883720 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.874G>A (p.Gly292Ser) single nucleotide variant not provided [RCV001346378] Chr17:39710454 [GRCh38]
Chr17:37866707 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1738-7C>A single nucleotide variant not provided [RCV001364624] Chr17:39717313 [GRCh38]
Chr17:37873566 [GRCh37]
Chr17:17q12
likely benign|uncertain significance
NM_004448.4(ERBB2):c.343G>A (p.Ala115Thr) single nucleotide variant not provided [RCV001364199] Chr17:39708438 [GRCh38]
Chr17:37864691 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3430G>C (p.Asp1144His) single nucleotide variant not provided [RCV001344903] Chr17:39727706 [GRCh38]
Chr17:37883959 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1366C>T (p.Arg456Cys) single nucleotide variant not provided [RCV001360885] Chr17:39715792 [GRCh38]
Chr17:37872045 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.298C>T (p.Arg100Trp) single nucleotide variant not provided [RCV001323347] Chr17:39708393 [GRCh38]
Chr17:37864646 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2493+5G>A single nucleotide variant not provided [RCV001373092] Chr17:39724916 [GRCh38]
Chr17:37881169 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3308C>T (p.Thr1103Ile) single nucleotide variant not provided [RCV001344544] Chr17:39727443 [GRCh38]
Chr17:37883696 [GRCh37]
Chr17:17q12
uncertain significance
NC_000017.10:g.(?_37856492)_(37884297_?)dup duplication not provided [RCV001351675] Chr17:37856492..37884297 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3763G>T (p.Val1255Leu) single nucleotide variant not provided [RCV001306284] Chr17:39728039 [GRCh38]
Chr17:37884292 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3662A>G (p.Tyr1221Cys) single nucleotide variant not provided [RCV001341129] Chr17:39727938 [GRCh38]
Chr17:37884191 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3436C>T (p.Arg1146Trp) single nucleotide variant not provided [RCV001370394] Chr17:39727712 [GRCh38]
Chr17:37883965 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1607G>A (p.Arg536Gln) single nucleotide variant not provided [RCV001358075] Chr17:39716394 [GRCh38]
Chr17:37872647 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1947-8G>A single nucleotide variant not provided [RCV001494774] Chr17:39723311 [GRCh38]
Chr17:37879564 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2431C>T (p.Arg811Trp) single nucleotide variant not provided [RCV001370035] Chr17:39724849 [GRCh38]
Chr17:37881102 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1138A>G (p.Ser380Gly) single nucleotide variant Inborn genetic diseases [RCV002546819]|not provided [RCV001337500] Chr17:39712438 [GRCh38]
Chr17:37868691 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.856G>C (p.Glu286Gln) single nucleotide variant not provided [RCV001297324] Chr17:39710436 [GRCh38]
Chr17:37866689 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2400T>C (p.Leu800=) single nucleotide variant not provided [RCV001461678] Chr17:39724818 [GRCh38]
Chr17:37881071 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.675C>G (p.Ala225=) single nucleotide variant not provided [RCV001465080] Chr17:39710117 [GRCh38]
Chr17:37866370 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2379G>A (p.Thr793=) single nucleotide variant not provided [RCV001514259] Chr17:39724797 [GRCh38]
Chr17:37881050 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.2786G>A (p.Arg929Gln) single nucleotide variant not provided [RCV001475240] Chr17:39725767 [GRCh38]
Chr17:37882020 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1746C>T (p.Asp582=) single nucleotide variant not provided [RCV001458295] Chr17:39717328 [GRCh38]
Chr17:37873581 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1389T>C (p.Ser463=) single nucleotide variant not provided [RCV001455403] Chr17:39715815 [GRCh38]
Chr17:37872068 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1725C>T (p.Thr575=) single nucleotide variant not provided [RCV001502740] Chr17:39716593 [GRCh38]
Chr17:37872846 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.498G>C (p.Thr166=) single nucleotide variant not provided [RCV001491690] Chr17:39709376 [GRCh38]
Chr17:37865629 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3081G>A (p.Gln1027=) single nucleotide variant not provided [RCV001415543] Chr17:39726925 [GRCh38]
Chr17:37883178 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.735G>C (p.Thr245=) single nucleotide variant not provided [RCV001493347] Chr17:39710177 [GRCh38]
Chr17:37866430 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2472C>T (p.Asn824=) single nucleotide variant not provided [RCV001488638] Chr17:39724890 [GRCh38]
Chr17:37881143 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.226-5C>T single nucleotide variant not provided [RCV001419798] Chr17:39708316 [GRCh38]
Chr17:37864569 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1659G>A (p.Glu553=) single nucleotide variant not provided [RCV001428699] Chr17:39716527 [GRCh38]
Chr17:37872780 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1269C>T (p.Ser423=) single nucleotide variant not provided [RCV001443510] Chr17:39715492 [GRCh38]
Chr17:37871745 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1065A>G (p.Ala355=) single nucleotide variant not provided [RCV001407075] Chr17:39712365 [GRCh38]
Chr17:37868618 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1646+10G>A single nucleotide variant not provided [RCV001420098] Chr17:39716443 [GRCh38]
Chr17:37872696 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.717G>A (p.Gln239=) single nucleotide variant not provided [RCV001441338] Chr17:39710159 [GRCh38]
Chr17:37866412 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2724T>C (p.Tyr908=) single nucleotide variant not provided [RCV001415925] Chr17:39725401 [GRCh38]
Chr17:37881654 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3540C>T (p.Val1180=) single nucleotide variant not provided [RCV001418566] Chr17:39727816 [GRCh38]
Chr17:37884069 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.81C>T (p.Thr27=) single nucleotide variant not provided [RCV001442345] Chr17:39706997 [GRCh38]
Chr17:37863250 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3651C>T (p.Phe1217=) single nucleotide variant not provided [RCV001417957] Chr17:39727927 [GRCh38]
Chr17:37884180 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3268C>T (p.Leu1090=) single nucleotide variant not provided [RCV001418110] Chr17:39727403 [GRCh38]
Chr17:37883656 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1898+10A>G single nucleotide variant not provided [RCV001406200] Chr17:39717490 [GRCh38]
Chr17:37873743 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2769C>T (p.Tyr923=) single nucleotide variant not provided [RCV001445323] Chr17:39725750 [GRCh38]
Chr17:37882003 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2307+7C>T single nucleotide variant not provided [RCV001445571] Chr17:39724017 [GRCh38]
Chr17:37880270 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3070C>T (p.Leu1024=) single nucleotide variant not provided [RCV001519140] Chr17:39726914 [GRCh38]
Chr17:37883167 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.2536T>C (p.Leu846=) single nucleotide variant not provided [RCV001490336] Chr17:39725091 [GRCh38]
Chr17:37881344 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.760-10G>T single nucleotide variant not provided [RCV001475969] Chr17:39710330 [GRCh38]
Chr17:37866583 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1467G>A (p.Pro489=) single nucleotide variant not provided [RCV001515984] Chr17:39715893 [GRCh38]
Chr17:37872146 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.3741G>A (p.Glu1247=) single nucleotide variant not provided [RCV001462597] Chr17:39728017 [GRCh38]
Chr17:37884270 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2541C>T (p.Ala847=) single nucleotide variant not provided [RCV001499764] Chr17:39725096 [GRCh38]
Chr17:37881349 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3396C>T (p.Thr1132=) single nucleotide variant not provided [RCV001459812] Chr17:39727531 [GRCh38]
Chr17:37883784 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3156C>G (p.Thr1052=) single nucleotide variant not provided [RCV001468191] Chr17:39727000 [GRCh38]
Chr17:37883253 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3453G>A (p.Ser1151=) single nucleotide variant not provided [RCV001399739] Chr17:39727729 [GRCh38]
Chr17:37883982 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2172G>A (p.Lys724=) single nucleotide variant not provided [RCV001455318] Chr17:39723624 [GRCh38]
Chr17:37879877 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.74-5G>T single nucleotide variant not provided [RCV001495473] Chr17:39706985 [GRCh38]
Chr17:37863238 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1317C>T (p.Gly439=) single nucleotide variant not provided [RCV001428883] Chr17:39715743 [GRCh38]
Chr17:37871996 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3108C>T (p.Ala1036=) single nucleotide variant not provided [RCV001520501] Chr17:39726952 [GRCh38]
Chr17:37883205 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.111C>A (p.Ala37=) single nucleotide variant not provided [RCV001442461] Chr17:39707027 [GRCh38]
Chr17:37863280 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.808G>T (p.Ala270Ser) single nucleotide variant not provided [RCV001460554] Chr17:39710388 [GRCh38]
Chr17:37866641 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1416C>T (p.Thr472=) single nucleotide variant not provided [RCV001510977] Chr17:39715842 [GRCh38]
Chr17:37872095 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.1932C>T (p.Ala644=) single nucleotide variant not provided [RCV001512913] Chr17:39719820 [GRCh38]
Chr17:37876073 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.816C>A (p.Val272=) single nucleotide variant not provided [RCV001429503] Chr17:39710396 [GRCh38]
Chr17:37866649 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3403C>T (p.Pro1135Ser) single nucleotide variant not provided [RCV001515106] Chr17:39727538 [GRCh38]
Chr17:37883791 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.3160-8G>A single nucleotide variant not provided [RCV001425645] Chr17:39727287 [GRCh38]
Chr17:37883540 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3441C>T (p.Pro1147=) single nucleotide variant not provided [RCV001466213] Chr17:39727717 [GRCh38]
Chr17:37883970 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.768C>T (p.Leu256=) single nucleotide variant not provided [RCV001452037] Chr17:39710348 [GRCh38]
Chr17:37866601 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1713T>C (p.Asn571=) single nucleotide variant not provided [RCV001393129] Chr17:39716581 [GRCh38]
Chr17:37872834 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3036T>C (p.Asp1012=) single nucleotide variant not provided [RCV001415926] Chr17:39726880 [GRCh38]
Chr17:37883133 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1371A>G (p.Ser457=) single nucleotide variant not provided [RCV001517870] Chr17:39715797 [GRCh38]
Chr17:37872050 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.2688C>T (p.Arg896=) single nucleotide variant not provided [RCV001489396] Chr17:39725365 [GRCh38]
Chr17:37881618 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2914T>C (p.Leu972=) single nucleotide variant not provided [RCV001424260] Chr17:39726603 [GRCh38]
Chr17:37882856 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.760-5C>T single nucleotide variant not provided [RCV003238429] Chr17:39710335 [GRCh38]
Chr17:37866588 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3149C>T (p.Ser1050Leu) single nucleotide variant not provided [RCV001868766] Chr17:39726993 [GRCh38]
Chr17:37883246 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.563G>A (p.Arg188His) single nucleotide variant not provided [RCV001885104] Chr17:39709441 [GRCh38]
Chr17:37865694 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.776A>G (p.Asn259Ser) single nucleotide variant not provided [RCV001929561] Chr17:39710356 [GRCh38]
Chr17:37866609 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.769C>T (p.His257Tyr) single nucleotide variant not provided [RCV001929571] Chr17:39710349 [GRCh38]
Chr17:37866602 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.575-5C>G single nucleotide variant not provided [RCV001915197] Chr17:39709808 [GRCh38]
Chr17:37866061 [GRCh37]
Chr17:17q12
likely benign|uncertain significance
NM_004448.4(ERBB2):c.664G>A (p.Gly222Ser) single nucleotide variant not provided [RCV001950050] Chr17:39710106 [GRCh38]
Chr17:37866359 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.225+3G>A single nucleotide variant not provided [RCV001928955] Chr17:39707144 [GRCh38]
Chr17:37863397 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2996C>T (p.Pro999Leu) single nucleotide variant not provided [RCV002045644] Chr17:39726840 [GRCh38]
Chr17:37883093 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.649C>T (p.Arg217Cys) single nucleotide variant not provided [RCV001987981] Chr17:39710091 [GRCh38]
Chr17:37866344 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.118G>A (p.Glu40Lys) single nucleotide variant not provided [RCV001896569] Chr17:39707034 [GRCh38]
Chr17:37863287 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1267A>G (p.Ser423Gly) single nucleotide variant not provided [RCV001915234] Chr17:39715490 [GRCh38]
Chr17:37871743 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1300C>T (p.Arg434Ter) single nucleotide variant not provided [RCV002045505] Chr17:39715523 [GRCh38]
Chr17:37871776 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3611C>G (p.Ala1204Gly) single nucleotide variant not provided [RCV001948329] Chr17:39727887 [GRCh38]
Chr17:37884140 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3689G>C (p.Arg1230Pro) single nucleotide variant not provided [RCV001950292] Chr17:39727965 [GRCh38]
Chr17:37884218 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1318G>A (p.Ala440Thr) single nucleotide variant not provided [RCV001896633] Chr17:39715744 [GRCh38]
Chr17:37871997 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2619C>G (p.Asp873Glu) single nucleotide variant not provided [RCV001988050] Chr17:39725174 [GRCh38]
Chr17:37881427 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3305C>T (p.Pro1102Leu) single nucleotide variant not provided [RCV001985688] Chr17:39727440 [GRCh38]
Chr17:37883693 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.383_384del (p.Pro128fs) deletion not provided [RCV002005936] Chr17:39708478..39708479 [GRCh38]
Chr17:37864731..37864732 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2424C>A (p.Asp808Glu) single nucleotide variant not provided [RCV002023086] Chr17:39724842 [GRCh38]
Chr17:37881095 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.73+3G>A single nucleotide variant not provided [RCV001966869] Chr17:39700314 [GRCh38]
Chr17:37856567 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1737+13C>T single nucleotide variant not provided [RCV001945987] Chr17:39716618 [GRCh38]
Chr17:37872871 [GRCh37]
Chr17:17q12
likely benign|uncertain significance
NM_004448.4(ERBB2):c.3458G>A (p.Arg1153Gln) single nucleotide variant not provided [RCV001984501] Chr17:39727734 [GRCh38]
Chr17:37883987 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1096G>C (p.Gly366Arg) single nucleotide variant not provided [RCV002039515] Chr17:39712396 [GRCh38]
Chr17:37868649 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.863G>A (p.Arg288Gln) single nucleotide variant not provided [RCV002039992] Chr17:39710443 [GRCh38]
Chr17:37866696 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.79A>C (p.Thr27Pro) single nucleotide variant not provided [RCV001893157] Chr17:39706995 [GRCh38]
Chr17:37863248 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1550G>C (p.Arg517Pro) single nucleotide variant not provided [RCV001948463] Chr17:39716337 [GRCh38]
Chr17:37872590 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.206C>G (p.Ala69Gly) single nucleotide variant not provided [RCV001949137] Chr17:39707122 [GRCh38]
Chr17:37863375 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.152A>G (p.Gln51Arg) single nucleotide variant not provided [RCV001963823] Chr17:39707068 [GRCh38]
Chr17:37863321 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.608G>A (p.Arg203His) single nucleotide variant not provided [RCV001949002] Chr17:39709846 [GRCh38]
Chr17:37866099 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1807G>A (p.Gly603Ser) single nucleotide variant not provided [RCV001926913] Chr17:39717389 [GRCh38]
Chr17:37873642 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.65G>A (p.Ser22Asn) single nucleotide variant not provided [RCV001863298] Chr17:39700303 [GRCh38]
Chr17:37856556 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3533A>G (p.Asn1178Ser) single nucleotide variant not provided [RCV001986879] Chr17:39727809 [GRCh38]
Chr17:37884062 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.497C>T (p.Thr166Met) single nucleotide variant not provided [RCV001909384] Chr17:39709375 [GRCh38]
Chr17:37865628 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3757G>A (p.Val1253Met) single nucleotide variant not provided [RCV001890791] Chr17:39728033 [GRCh38]
Chr17:37884286 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3034G>A (p.Asp1012Asn) single nucleotide variant not provided [RCV001910478] Chr17:39726878 [GRCh38]
Chr17:37883131 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1874C>T (p.Pro625Leu) single nucleotide variant not provided [RCV001986476] Chr17:39717456 [GRCh38]
Chr17:37873709 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3337A>G (p.Ser1113Gly) single nucleotide variant not provided [RCV001926948] Chr17:39727472 [GRCh38]
Chr17:37883725 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.608G>C (p.Arg203Pro) single nucleotide variant not provided [RCV001889872] Chr17:39709846 [GRCh38]
Chr17:37866099 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2807A>G (p.Glu936Gly) single nucleotide variant not provided [RCV002041039] Chr17:39725788 [GRCh38]
Chr17:37882041 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3031G>A (p.Asp1011Asn) single nucleotide variant not provided [RCV001926588] Chr17:39726875 [GRCh38]
Chr17:37883128 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1597C>A (p.Gln533Lys) single nucleotide variant not provided [RCV001965232] Chr17:39716384 [GRCh38]
Chr17:37872637 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3382G>A (p.Val1128Ile) single nucleotide variant not provided [RCV001983714] Chr17:39727517 [GRCh38]
Chr17:37883770 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1436C>T (p.Thr479Met) single nucleotide variant not provided [RCV001940683] Chr17:39715862 [GRCh38]
Chr17:37872115 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1021+5C>G single nucleotide variant not provided [RCV001887275] Chr17:39712052 [GRCh38]
Chr17:37868305 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.574+15T>A single nucleotide variant not provided [RCV002084578] Chr17:39709467 [GRCh38]
Chr17:37865720 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.508A>C (p.Lys170Gln) single nucleotide variant not provided [RCV002031083] Chr17:39709386 [GRCh38]
Chr17:37865639 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2738G>A (p.Trp913Ter) single nucleotide variant not provided [RCV002020254] Chr17:39725719 [GRCh38]
Chr17:37881972 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2882T>C (p.Ile961Thr) single nucleotide variant not provided [RCV001992849] Chr17:39726571 [GRCh38]
Chr17:37882824 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2268G>T (p.Arg756Ser) single nucleotide variant not provided [RCV001922738] Chr17:39723971 [GRCh38]
Chr17:37880224 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2833C>G (p.Pro945Ala) single nucleotide variant not provided [RCV001963520] Chr17:39725814 [GRCh38]
Chr17:37882067 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2542G>A (p.Ala848Thr) single nucleotide variant not provided [RCV001977488] Chr17:39725097 [GRCh38]
Chr17:37881350 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1133C>T (p.Pro378Leu) single nucleotide variant not provided [RCV001955344] Chr17:39712433 [GRCh38]
Chr17:37868686 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.74T>C (p.Val25Ala) single nucleotide variant not provided [RCV002019717] Chr17:39706990 [GRCh38]
Chr17:37863243 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1757C>T (p.Ala586Val) single nucleotide variant not provided [RCV001933910] Chr17:39717339 [GRCh38]
Chr17:37873592 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1411A>G (p.Asn471Asp) single nucleotide variant not provided [RCV001881000] Chr17:39715837 [GRCh38]
Chr17:37872090 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.223C>T (p.Gln75Ter) single nucleotide variant not provided [RCV001922413] Chr17:39707139 [GRCh38]
Chr17:37863392 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1437G>A (p.Thr479=) single nucleotide variant not provided [RCV001937018] Chr17:39715863 [GRCh38]
Chr17:37872116 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2493+6C>T single nucleotide variant not provided [RCV001957689] Chr17:39724917 [GRCh38]
Chr17:37881170 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3725C>T (p.Thr1242Met) single nucleotide variant not provided [RCV001935856] Chr17:39728001 [GRCh38]
Chr17:37884254 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2843C>T (p.Thr948Ile) single nucleotide variant not provided [RCV001955787] Chr17:39725824 [GRCh38]
Chr17:37882077 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2479A>C (p.Met827Leu) single nucleotide variant not provided [RCV001932686] Chr17:39724897 [GRCh38]
Chr17:37881150 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2686C>G (p.Arg896Gly) single nucleotide variant not provided [RCV002047145] Chr17:39725363 [GRCh38]
Chr17:37881616 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3501G>A (p.Leu1167=) single nucleotide variant not provided [RCV001971998] Chr17:39727777 [GRCh38]
Chr17:37884030 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1685C>T (p.Pro562Leu) single nucleotide variant not provided [RCV001957301] Chr17:39716553 [GRCh38]
Chr17:37872806 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.7C>G (p.Leu3Val) single nucleotide variant not provided [RCV001917179] Chr17:39700245 [GRCh38]
Chr17:37856498 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3142C>T (p.Arg1048Cys) single nucleotide variant not provided [RCV001917328] Chr17:39726986 [GRCh38]
Chr17:37883239 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3688C>T (p.Arg1230Trp) single nucleotide variant not provided [RCV001936101] Chr17:39727964 [GRCh38]
Chr17:37884217 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.59C>T (p.Ala20Val) single nucleotide variant not provided [RCV001881976] Chr17:39700297 [GRCh38]
Chr17:37856550 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.370A>T (p.Asn124Tyr) single nucleotide variant not provided [RCV001979008] Chr17:39708465 [GRCh38]
Chr17:37864718 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1837A>G (p.Ile613Val) single nucleotide variant not provided [RCV001903574] Chr17:39717419 [GRCh38]
Chr17:37873672 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.607C>T (p.Arg203Cys) single nucleotide variant not provided [RCV001898013] Chr17:39709845 [GRCh38]
Chr17:37866098 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3202G>T (p.Glu1068Ter) single nucleotide variant not provided [RCV002048223] Chr17:39727337 [GRCh38]
Chr17:37883590 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.455G>C (p.Gly152Ala) single nucleotide variant not provided [RCV001899302] Chr17:39709333 [GRCh38]
Chr17:37865586 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1453C>G (p.Leu485Val) single nucleotide variant not provided [RCV001982481] Chr17:39715879 [GRCh38]
Chr17:37872132 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1484A>C (p.His495Pro) single nucleotide variant not provided [RCV001976924] Chr17:39715910 [GRCh38]
Chr17:37872163 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3544A>C (p.Lys1182Gln) single nucleotide variant not provided [RCV001939165] Chr17:39727820 [GRCh38]
Chr17:37884073 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1193A>G (p.Gln398Arg) single nucleotide variant not provided [RCV001931406] Chr17:39715330 [GRCh38]
Chr17:37871583 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1056G>C (p.Glu352Asp) single nucleotide variant not provided [RCV001935502] Chr17:39712356 [GRCh38]
Chr17:37868609 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2051A>G (p.Lys684Arg) single nucleotide variant not provided [RCV001994937] Chr17:39723423 [GRCh38]
Chr17:37879676 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1514-11C>G single nucleotide variant not provided [RCV001958647] Chr17:39716290 [GRCh38]
Chr17:37872543 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3111G>A (p.Pro1037=) single nucleotide variant not provided [RCV001980165] Chr17:39726955 [GRCh38]
Chr17:37883208 [GRCh37]
Chr17:17q12
likely benign|uncertain significance
NM_004448.4(ERBB2):c.203A>G (p.Asn68Ser) single nucleotide variant not provided [RCV001997186] Chr17:39707119 [GRCh38]
Chr17:37863372 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1409A>G (p.His470Arg) single nucleotide variant not provided [RCV001981931] Chr17:39715835 [GRCh38]
Chr17:37872088 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2824C>T (p.Pro942Ser) single nucleotide variant not provided [RCV002036330] Chr17:39725805 [GRCh38]
Chr17:37882058 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.568C>T (p.Arg190Trp) single nucleotide variant not provided [RCV001931683] Chr17:39709446 [GRCh38]
Chr17:37865699 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3550G>A (p.Val1184Ile) single nucleotide variant not provided [RCV001958101] Chr17:39727826 [GRCh38]
Chr17:37884079 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.569G>C (p.Arg190Pro) single nucleotide variant not provided [RCV001997278] Chr17:39709447 [GRCh38]
Chr17:37865700 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.400C>T (p.Pro134Ser) single nucleotide variant not provided [RCV001918447] Chr17:39708495 [GRCh38]
Chr17:37864748 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1796G>A (p.Arg599His) single nucleotide variant not provided [RCV001934563] Chr17:39717378 [GRCh38]
Chr17:37873631 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.170A>G (p.Gln57Arg) single nucleotide variant not provided [RCV001924300] Chr17:39707086 [GRCh38]
Chr17:37863339 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1546G>A (p.Ala516Thr) single nucleotide variant not provided [RCV001981589] Chr17:39716333 [GRCh38]
Chr17:37872586 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3754G>A (p.Asp1252Asn) single nucleotide variant not provided [RCV001920214] Chr17:39728030 [GRCh38]
Chr17:37884283 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.250G>A (p.Val84Met) single nucleotide variant not provided [RCV001924385] Chr17:39708345 [GRCh38]
Chr17:37864598 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1797C>G (p.Arg599=) single nucleotide variant not provided [RCV001952877] Chr17:39717379 [GRCh38]
Chr17:37873632 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3672C>G (p.Asp1224Glu) single nucleotide variant not provided [RCV001922262] Chr17:39727948 [GRCh38]
Chr17:37884201 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2307C>T (p.Asp769=) single nucleotide variant not provided [RCV001957532] Chr17:39724010 [GRCh38]
Chr17:37880263 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3166G>A (p.Gly1056Ser) single nucleotide variant not provided [RCV001924159] Chr17:39727301 [GRCh38]
Chr17:37883554 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1844A>G (p.Lys615Arg) single nucleotide variant not provided [RCV001981825] Chr17:39717426 [GRCh38]
Chr17:37873679 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.202A>G (p.Asn68Asp) single nucleotide variant not provided [RCV001995624] Chr17:39707118 [GRCh38]
Chr17:37863371 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.199A>G (p.Thr67Ala) single nucleotide variant not provided [RCV002019187] Chr17:39707115 [GRCh38]
Chr17:37863368 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3331C>T (p.Arg1111Trp) single nucleotide variant not provided [RCV001876316] Chr17:39727466 [GRCh38]
Chr17:37883719 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.225+9C>T single nucleotide variant not provided [RCV001953784] Chr17:39707150 [GRCh38]
Chr17:37863403 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.54C>A (p.Pro18=) single nucleotide variant not provided [RCV001974935] Chr17:39700292 [GRCh38]
Chr17:37856545 [GRCh37]
Chr17:17q12
likely benign|uncertain significance
NM_004448.4(ERBB2):c.1928C>G (p.Pro643Arg) single nucleotide variant not provided [RCV001972323] Chr17:39719816 [GRCh38]
Chr17:37876069 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1459C>T (p.Arg487Trp) single nucleotide variant not provided [RCV001932654] Chr17:39715885 [GRCh38]
Chr17:37872138 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.122C>T (p.Thr41Ile) single nucleotide variant not provided [RCV002033886] Chr17:39707038 [GRCh38]
Chr17:37863291 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2727T>G (p.Gly909=) single nucleotide variant not provided [RCV002105089] Chr17:39725708 [GRCh38]
Chr17:37881961 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1051C>A (p.Arg351=) single nucleotide variant not provided [RCV002210500] Chr17:39712351 [GRCh38]
Chr17:37868604 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3249C>A (p.Ser1083=) single nucleotide variant not provided [RCV002126866] Chr17:39727384 [GRCh38]
Chr17:37883637 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2574T>C (p.His858=) single nucleotide variant not provided [RCV002209192] Chr17:39725129 [GRCh38]
Chr17:37881382 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.73+9G>A single nucleotide variant not provided [RCV002166960] Chr17:39700320 [GRCh38]
Chr17:37856573 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1738-4C>G single nucleotide variant not provided [RCV002192811] Chr17:39717316 [GRCh38]
Chr17:37873569 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1513+13G>A single nucleotide variant not provided [RCV002091331] Chr17:39715952 [GRCh38]
Chr17:37872205 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3168T>C (p.Gly1056=) single nucleotide variant not provided [RCV002167271] Chr17:39727303 [GRCh38]
Chr17:37883556 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1149-14C>G single nucleotide variant not provided [RCV002149229] Chr17:39715272 [GRCh38]
Chr17:37871525 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1545C>T (p.Cys515=) single nucleotide variant not provided [RCV002165122] Chr17:39716332 [GRCh38]
Chr17:37872585 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1113T>C (p.Phe371=) single nucleotide variant not provided [RCV002128870] Chr17:39712413 [GRCh38]
Chr17:37868666 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.870A>G (p.Thr290=) single nucleotide variant not provided [RCV002088838] Chr17:39710450 [GRCh38]
Chr17:37866703 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1620C>T (p.Cys540=) single nucleotide variant not provided [RCV002186858] Chr17:39716407 [GRCh38]
Chr17:37872660 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2494-15T>C single nucleotide variant not provided [RCV002205967] Chr17:39725034 [GRCh38]
Chr17:37881287 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1681T>C (p.Leu561=) single nucleotide variant not provided [RCV002111086] Chr17:39716549 [GRCh38]
Chr17:37872802 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.999G>A (p.Lys333=) single nucleotide variant not provided [RCV002129489] Chr17:39712025 [GRCh38]
Chr17:37868278 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1875T>C (p.Pro625=) single nucleotide variant not provided [RCV002166002] Chr17:39717457 [GRCh38]
Chr17:37873710 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.201C>G (p.Thr67=) single nucleotide variant not provided [RCV002089842] Chr17:39707117 [GRCh38]
Chr17:37863370 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1223-14C>A single nucleotide variant not provided [RCV002091380] Chr17:39715432 [GRCh38]
Chr17:37871685 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3160-15C>T single nucleotide variant not provided [RCV002185623] Chr17:39727280 [GRCh38]
Chr17:37883533 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.74-12C>T single nucleotide variant not provided [RCV002086250] Chr17:39706978 [GRCh38]
Chr17:37863231 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1149-4C>T single nucleotide variant not provided [RCV002215951] Chr17:39715282 [GRCh38]
Chr17:37871535 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2442C>T (p.Arg814=) single nucleotide variant not provided [RCV002117010] Chr17:39724860 [GRCh38]
Chr17:37881113 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.15C>G (p.Ala5=) single nucleotide variant not provided [RCV002107508] Chr17:39700253 [GRCh38]
Chr17:37856506 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3381C>T (p.Tyr1127=) single nucleotide variant not provided [RCV002207556] Chr17:39727516 [GRCh38]
Chr17:37883769 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2307+9C>T single nucleotide variant not provided [RCV002097743] Chr17:39724019 [GRCh38]
Chr17:37880272 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1738-3dup duplication not provided [RCV002194909] Chr17:39717309..39717310 [GRCh38]
Chr17:37873562..37873563 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.3160-4C>T single nucleotide variant not provided [RCV002076485] Chr17:39727291 [GRCh38]
Chr17:37883544 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3033C>T (p.Asp1011=) single nucleotide variant not provided [RCV002211560] Chr17:39726877 [GRCh38]
Chr17:37883130 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2873-5C>T single nucleotide variant not provided [RCV002134453] Chr17:39726557 [GRCh38]
Chr17:37882810 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1179G>A (p.Gln393=) single nucleotide variant not provided [RCV002095765] Chr17:39715316 [GRCh38]
Chr17:37871569 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2973T>C (p.Asn991=) single nucleotide variant not provided [RCV002175080] Chr17:39726817 [GRCh38]
Chr17:37883070 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2493+15T>C single nucleotide variant not provided [RCV002172820] Chr17:39724926 [GRCh38]
Chr17:37881179 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.855C>T (p.Pro285=) single nucleotide variant not provided [RCV002117101] Chr17:39710435 [GRCh38]
Chr17:37866688 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1428C>T (p.Phe476=) single nucleotide variant not provided [RCV002175091] Chr17:39715854 [GRCh38]
Chr17:37872107 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.288G>A (p.Leu96=) single nucleotide variant not provided [RCV002190488] Chr17:39708383 [GRCh38]
Chr17:37864636 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1476T>C (p.Ala492=) single nucleotide variant not provided [RCV002216064] Chr17:39715902 [GRCh38]
Chr17:37872155 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.726C>T (p.Ala242=) single nucleotide variant not provided [RCV002173148] Chr17:39710168 [GRCh38]
Chr17:37866421 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3570C>T (p.Ala1190=) single nucleotide variant not provided [RCV002096009] Chr17:39727846 [GRCh38]
Chr17:37884099 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1947-14G>T single nucleotide variant not provided [RCV002096590] Chr17:39723305 [GRCh38]
Chr17:37879558 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2628G>A (p.Glu876=) single nucleotide variant not provided [RCV002215875] Chr17:39725183 [GRCh38]
Chr17:37881436 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1383G>A (p.Leu461=) single nucleotide variant not provided [RCV002212265] Chr17:39715809 [GRCh38]
Chr17:37872062 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1737+15G>A single nucleotide variant not provided [RCV002170306] Chr17:39716620 [GRCh38]
Chr17:37872873 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.51C>A (p.Pro17=) single nucleotide variant not provided [RCV002079982] Chr17:39700289 [GRCh38]
Chr17:37856542 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.105C>T (p.Leu35=) single nucleotide variant not provided [RCV002109447] Chr17:39707021 [GRCh38]
Chr17:37863274 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1737+14G>A single nucleotide variant not provided [RCV002171627] Chr17:39716619 [GRCh38]
Chr17:37872872 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3423C>T (p.Asn1141=) single nucleotide variant not provided [RCV002146412] Chr17:39727699 [GRCh38]
Chr17:37883952 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1662T>C (p.Tyr554=) single nucleotide variant not provided [RCV002194977] Chr17:39716530 [GRCh38]
Chr17:37872783 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.225+10G>A single nucleotide variant not provided [RCV002080361] Chr17:39707151 [GRCh38]
Chr17:37863404 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2209-9del deletion not provided [RCV002093902] Chr17:39723901 [GRCh38]
Chr17:37880154 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2209-12C>T single nucleotide variant not provided [RCV002093940] Chr17:39723900 [GRCh38]
Chr17:37880153 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.939C>T (p.Leu313=) single nucleotide variant not provided [RCV002168301] Chr17:39711965 [GRCh38]
Chr17:37868218 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1223-13C>T single nucleotide variant not provided [RCV002093964] Chr17:39715433 [GRCh38]
Chr17:37871686 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.705C>T (p.Cys235=) single nucleotide variant not provided [RCV002197706] Chr17:39710147 [GRCh38]
Chr17:37866400 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.522C>T (p.His174=) single nucleotide variant not provided [RCV002100096] Chr17:39709400 [GRCh38]
Chr17:37865653 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1314-15A>C single nucleotide variant not provided [RCV002154445] Chr17:39715725 [GRCh38]
Chr17:37871978 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3756C>T (p.Asp1252=) single nucleotide variant not provided [RCV002200139] Chr17:39728032 [GRCh38]
Chr17:37884285 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1782C>A (p.Pro594=) single nucleotide variant not provided [RCV002102537] Chr17:39717364 [GRCh38]
Chr17:37873617 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3201A>G (p.Glu1067=) single nucleotide variant not provided [RCV002158467] Chr17:39727336 [GRCh38]
Chr17:37883589 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1083C>A (p.Ile361=) single nucleotide variant not provided [RCV002142209] Chr17:39712383 [GRCh38]
Chr17:37868636 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3582C>T (p.Pro1194=) single nucleotide variant not provided [RCV002100133] Chr17:39727858 [GRCh38]
Chr17:37884111 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.51C>T (p.Pro17=) single nucleotide variant not provided [RCV002163355] Chr17:39700289 [GRCh38]
Chr17:37856542 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.39C>T (p.Leu13=) single nucleotide variant not provided [RCV002141749] Chr17:39700277 [GRCh38]
Chr17:37856530 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1946+12C>T single nucleotide variant not provided [RCV002219365] Chr17:39719846 [GRCh38]
Chr17:37876099 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1755G>A (p.Val585=) single nucleotide variant not provided [RCV002164136] Chr17:39717337 [GRCh38]
Chr17:37873590 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2796T>C (p.Pro932=) single nucleotide variant not provided [RCV002082377] Chr17:39725777 [GRCh38]
Chr17:37882030 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2619C>T (p.Asp873=) single nucleotide variant not provided [RCV002103167] Chr17:39725174 [GRCh38]
Chr17:37881427 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.439+13G>A single nucleotide variant not provided [RCV002164432] Chr17:39708547 [GRCh38]
Chr17:37864800 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2873-17C>A single nucleotide variant not provided [RCV002119373] Chr17:39726545 [GRCh38]
Chr17:37882798 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3159+13G>A single nucleotide variant not provided [RCV002122835] Chr17:39727016 [GRCh38]
Chr17:37883269 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.2743C>T (p.Leu915=) single nucleotide variant not provided [RCV002097916] Chr17:39725724 [GRCh38]
Chr17:37881977 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2086-11C>G single nucleotide variant not provided [RCV002097937] Chr17:39723527 [GRCh38]
Chr17:37879780 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.2873-15T>A single nucleotide variant not provided [RCV002219270] Chr17:39726547 [GRCh38]
Chr17:37882800 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1686G>A (p.Pro562=) single nucleotide variant not provided [RCV002098925] Chr17:39716554 [GRCh38]
Chr17:37872807 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.498G>A (p.Thr166=) single nucleotide variant not provided [RCV002122147] Chr17:39709376 [GRCh38]
Chr17:37865629 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2308-14A>G single nucleotide variant not provided [RCV002219666] Chr17:39724712 [GRCh38]
Chr17:37880965 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1509G>A (p.Glu503=) single nucleotide variant not provided [RCV002140112] Chr17:39715935 [GRCh38]
Chr17:37872188 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1899-9C>T single nucleotide variant not provided [RCV002121195] Chr17:39719778 [GRCh38]
Chr17:37876031 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.902-17G>A single nucleotide variant not provided [RCV002202955] Chr17:39711911 [GRCh38]
Chr17:37868164 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1899-10dup duplication not provided [RCV002197683] Chr17:39719774..39719775 [GRCh38]
Chr17:37876027..37876028 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3413-18C>T single nucleotide variant not provided [RCV002200013] Chr17:39727671 [GRCh38]
Chr17:37883924 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2130G>A (p.Ala710=) single nucleotide variant not provided [RCV002159317] Chr17:39723582 [GRCh38]
Chr17:37879835 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.876C>T (p.Gly292=) single nucleotide variant not provided [RCV002199825] Chr17:39710456 [GRCh38]
Chr17:37866709 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.366G>A (p.Pro122=) single nucleotide variant not provided [RCV002199844] Chr17:39708461 [GRCh38]
Chr17:37864714 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1149-8C>G single nucleotide variant not provided [RCV002101943] Chr17:39715278 [GRCh38]
Chr17:37871531 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2346C>T (p.Val782=) single nucleotide variant not provided [RCV002202249] Chr17:39724764 [GRCh38]
Chr17:37881017 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.192C>T (p.Tyr64=) single nucleotide variant not provided [RCV002159976] Chr17:39707108 [GRCh38]
Chr17:37863361 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1908C>T (p.Asp636=) single nucleotide variant not provided [RCV002124215] Chr17:39719796 [GRCh38]
Chr17:37876049 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1314-16del deletion not provided [RCV002182021] Chr17:39715722 [GRCh38]
Chr17:37871975 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.78C>T (p.Cys26=) single nucleotide variant not provided [RCV002124045] Chr17:39706994 [GRCh38]
Chr17:37863247 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1929C>T (p.Pro643=) single nucleotide variant not provided [RCV002144230] Chr17:39719817 [GRCh38]
Chr17:37876070 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1738-4C>A single nucleotide variant not provided [RCV002217655] Chr17:39717316 [GRCh38]
Chr17:37873569 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1738-9C>T single nucleotide variant not provided [RCV002122474] Chr17:39717311 [GRCh38]
Chr17:37873564 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1222+20C>T single nucleotide variant not provided [RCV003110965] Chr17:39715379 [GRCh38]
Chr17:37871632 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3159+12C>T single nucleotide variant not provided [RCV003111056] Chr17:39727015 [GRCh38]
Chr17:37883268 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.41C>T (p.Ala14Val) single nucleotide variant not provided [RCV003110218] Chr17:39700279 [GRCh38]
Chr17:37856532 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2308-16G>A single nucleotide variant not provided [RCV003111069] Chr17:39724710 [GRCh38]
Chr17:37880963 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.902-12T>C single nucleotide variant not provided [RCV003111090] Chr17:39711916 [GRCh38]
Chr17:37868169 [GRCh37]
Chr17:17q12
likely benign
NC_000017.10:g.(?_37821613)_(38458253_?)dup duplication Hypertrophic cardiomyopathy 25 [RCV003113302] Chr17:37821613..38458253 [GRCh37]
Chr17:17q12-21.2
uncertain significance
NM_004448.4(ERBB2):c.2971-10del deletion not provided [RCV003114158] Chr17:39726804 [GRCh38]
Chr17:37883057 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3159+12C>G single nucleotide variant not provided [RCV003116922] Chr17:39727015 [GRCh38]
Chr17:37883268 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1021+15C>T single nucleotide variant not provided [RCV003116932] Chr17:39712062 [GRCh38]
Chr17:37868315 [GRCh37]
Chr17:17q12
likely benign
NC_000017.10:g.(?_37880959)_(37884297_?)del deletion not provided [RCV003113484] Chr17:37880959..37884297 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.226-11C>T single nucleotide variant not provided [RCV003111377] Chr17:39708310 [GRCh38]
Chr17:37864563 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.226-5C>A single nucleotide variant not provided [RCV003116021] Chr17:39708316 [GRCh38]
Chr17:37864569 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1513+17A>G single nucleotide variant not provided [RCV003117009] Chr17:39715956 [GRCh38]
Chr17:37872209 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.439+16A>G single nucleotide variant not provided [RCV003117017] Chr17:39708550 [GRCh38]
Chr17:37864803 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.1738-4C>T single nucleotide variant not provided [RCV003117043] Chr17:39717316 [GRCh38]
Chr17:37873569 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2690G>A (p.Arg897Gln) single nucleotide variant not provided [RCV003112057] Chr17:39725367 [GRCh38]
Chr17:37881620 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2872+16G>C single nucleotide variant not provided [RCV003113596] Chr17:39725869 [GRCh38]
Chr17:37882122 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2010C>G (p.Val670=) single nucleotide variant not provided [RCV003115602] Chr17:39723382 [GRCh38]
Chr17:37879635 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1581G>A (p.Gln527=) single nucleotide variant not provided [RCV003115027] Chr17:39716368 [GRCh38]
Chr17:37872621 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2048G>C (p.Arg683Pro) single nucleotide variant not provided [RCV003121512] Chr17:39723420 [GRCh38]
Chr17:37879673 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1123G>A (p.Ala375Thr) single nucleotide variant not provided [RCV002304068] Chr17:39712423 [GRCh38]
Chr17:37868676 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2296G>A (p.Glu766Lys) single nucleotide variant not provided [RCV002299647] Chr17:39723999 [GRCh38]
Chr17:37880252 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3541G>A (p.Val1181Ile) single nucleotide variant not provided [RCV002615242] Chr17:39727817 [GRCh38]
Chr17:37884070 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.877G>A (p.Ala293Thr) single nucleotide variant not provided [RCV002775259] Chr17:39710457 [GRCh38]
Chr17:37866710 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.340C>T (p.Leu114=) single nucleotide variant not provided [RCV002974903] Chr17:39708435 [GRCh38]
Chr17:37864688 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1319C>T (p.Ala440Val) single nucleotide variant not provided [RCV002843877] Chr17:39715745 [GRCh38]
Chr17:37871998 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2932C>T (p.Arg978Cys) single nucleotide variant not provided [RCV002794820] Chr17:39726621 [GRCh38]
Chr17:37882874 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2607G>A (p.Leu869=) single nucleotide variant not provided [RCV003073691] Chr17:39725162 [GRCh38]
Chr17:37881415 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1295G>A (p.Arg432Gln) single nucleotide variant not provided [RCV002756516] Chr17:39715518 [GRCh38]
Chr17:37871771 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.792T>C (p.Cys264=) single nucleotide variant not provided [RCV002967497] Chr17:39710372 [GRCh38]
Chr17:37866625 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3534T>C (p.Asn1178=) single nucleotide variant not provided [RCV003034820] Chr17:39727810 [GRCh38]
Chr17:37884063 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1660T>A (p.Tyr554Asn) single nucleotide variant Inborn genetic diseases [RCV002839841] Chr17:39716528 [GRCh38]
Chr17:37872781 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1313+9T>A single nucleotide variant not provided [RCV002837489] Chr17:39715545 [GRCh38]
Chr17:37871798 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1429G>A (p.Val477Met) single nucleotide variant not provided [RCV003097471] Chr17:39715855 [GRCh38]
Chr17:37872108 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1826C>T (p.Ser609Phe) single nucleotide variant not provided [RCV002994849] Chr17:39717408 [GRCh38]
Chr17:37873661 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1736C>T (p.Pro579Leu) single nucleotide variant not provided [RCV002993520] Chr17:39716604 [GRCh38]
Chr17:37872857 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.602G>T (p.Gly201Val) single nucleotide variant not provided [RCV002614977] Chr17:39709840 [GRCh38]
Chr17:37866093 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1872G>A (p.Gln624=) single nucleotide variant not provided [RCV002755752] Chr17:39717454 [GRCh38]
Chr17:37873707 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2931C>T (p.Ser977=) single nucleotide variant not provided [RCV002636542] Chr17:39726620 [GRCh38]
Chr17:37882873 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.440-10C>T single nucleotide variant not provided [RCV002780733] Chr17:39709308 [GRCh38]
Chr17:37865561 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2209-6G>A single nucleotide variant not provided [RCV002800476] Chr17:39723906 [GRCh38]
Chr17:37880159 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3673C>T (p.Gln1225Ter) single nucleotide variant not provided [RCV003021962] Chr17:39727949 [GRCh38]
Chr17:37884202 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3007A>G (p.Thr1003Ala) single nucleotide variant not provided [RCV003039251] Chr17:39726851 [GRCh38]
Chr17:37883104 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1754_1755del (p.Val585fs) microsatellite not provided [RCV002705851] Chr17:39717331..39717332 [GRCh38]
Chr17:37873584..37873585 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.569G>A (p.Arg190Gln) single nucleotide variant not provided [RCV003100655] Chr17:39709447 [GRCh38]
Chr17:37865700 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.100C>T (p.Arg34Trp) single nucleotide variant not provided [RCV003053273] Chr17:39707016 [GRCh38]
Chr17:37863269 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.474C>T (p.Asn158=) single nucleotide variant not provided [RCV002636972] Chr17:39709352 [GRCh38]
Chr17:37865605 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1831A>G (p.Met611Val) single nucleotide variant not provided [RCV002591433] Chr17:39717413 [GRCh38]
Chr17:37873666 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.69C>T (p.Thr23=) single nucleotide variant not provided [RCV003100573] Chr17:39700307 [GRCh38]
Chr17:37856560 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.821A>G (p.Tyr274Cys) single nucleotide variant not provided [RCV003054009] Chr17:39710401 [GRCh38]
Chr17:37866654 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1947-7C>T single nucleotide variant not provided [RCV002761646] Chr17:39723312 [GRCh38]
Chr17:37879565 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1509G>C (p.Glu503Asp) single nucleotide variant not provided [RCV002695633] Chr17:39715935 [GRCh38]
Chr17:37872188 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.402A>G (p.Pro134=) single nucleotide variant not provided [RCV002889361] Chr17:39708497 [GRCh38]
Chr17:37864750 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1629A>G (p.Glu543=) single nucleotide variant not provided [RCV002780831] Chr17:39716416 [GRCh38]
Chr17:37872669 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3405_3412+42delinsAG indel not provided [RCV002760692] Chr17:39727540..39727589 [GRCh38]
Chr17:37883793..37883842 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2158C>T (p.Leu720=) single nucleotide variant not provided [RCV003079790] Chr17:39723610 [GRCh38]
Chr17:37879863 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3174C>T (p.Asp1058=) single nucleotide variant not provided [RCV003021306] Chr17:39727309 [GRCh38]
Chr17:37883562 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3689G>A (p.Arg1230Gln) single nucleotide variant not provided [RCV003100612] Chr17:39727965 [GRCh38]
Chr17:37884218 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.117C>T (p.Pro39=) single nucleotide variant not provided [RCV003080946] Chr17:39707033 [GRCh38]
Chr17:37863286 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.677G>A (p.Arg226His) single nucleotide variant not provided [RCV003080631] Chr17:39710119 [GRCh38]
Chr17:37866372 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1506C>T (p.Asp502=) single nucleotide variant not provided [RCV003080493] Chr17:39715932 [GRCh38]
Chr17:37872185 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1093G>A (p.Ala365Thr) single nucleotide variant not provided [RCV003100609] Chr17:39712393 [GRCh38]
Chr17:37868646 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2447G>A (p.Arg816His) single nucleotide variant not provided [RCV003085250] Chr17:39724865 [GRCh38]
Chr17:37881118 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.738C>T (p.Gly246=) single nucleotide variant not provided [RCV002700652] Chr17:39710180 [GRCh38]
Chr17:37866433 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1650C>T (p.Leu550=) single nucleotide variant not provided [RCV002574670] Chr17:39716518 [GRCh38]
Chr17:37872771 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1028A>G (p.Tyr343Cys) single nucleotide variant not provided [RCV002643607] Chr17:39712328 [GRCh38]
Chr17:37868581 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1513+18G>T single nucleotide variant not provided [RCV002872018] Chr17:39715957 [GRCh38]
Chr17:37872210 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.766C>T (p.Leu256Phe) single nucleotide variant not provided [RCV002668087] Chr17:39710346 [GRCh38]
Chr17:37866599 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.605C>T (p.Ser202Phe) single nucleotide variant Inborn genetic diseases [RCV002931312] Chr17:39709843 [GRCh38]
Chr17:37866096 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1947-9C>T single nucleotide variant not provided [RCV003083127] Chr17:39723310 [GRCh38]
Chr17:37879563 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.580C>T (p.Pro194Ser) single nucleotide variant not provided [RCV002642642] Chr17:39709818 [GRCh38]
Chr17:37866071 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2156A>T (p.Glu719Val) single nucleotide variant Inborn genetic diseases [RCV002873617] Chr17:39723608 [GRCh38]
Chr17:37879861 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1738-5C>T single nucleotide variant not provided [RCV002800695] Chr17:39717315 [GRCh38]
Chr17:37873568 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.650G>A (p.Arg217His) single nucleotide variant not provided [RCV002574550] Chr17:39710092 [GRCh38]
Chr17:37866345 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.233A>G (p.Gln78Arg) single nucleotide variant not provided [RCV002595652] Chr17:39708328 [GRCh38]
Chr17:37864581 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2589C>T (p.Asp863=) single nucleotide variant not provided [RCV002801056] Chr17:39725144 [GRCh38]
Chr17:37881397 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3675G>C (p.Gln1225His) single nucleotide variant Inborn genetic diseases [RCV002787437] Chr17:39727951 [GRCh38]
Chr17:37884204 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3470T>G (p.Leu1157Arg) single nucleotide variant not provided [RCV003082937] Chr17:39727746 [GRCh38]
Chr17:37883999 [GRCh37]
Chr17:17q12
conflicting interpretations of pathogenicity|uncertain significance
NM_004448.4(ERBB2):c.1172C>T (p.Pro391Leu) single nucleotide variant not provided [RCV003082980] Chr17:39715309 [GRCh38]
Chr17:37871562 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3459A>C (p.Arg1153=) single nucleotide variant not provided [RCV003059047] Chr17:39727735 [GRCh38]
Chr17:37883988 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3110C>T (p.Pro1037Leu) single nucleotide variant not provided [RCV002982352] Chr17:39726954 [GRCh38]
Chr17:37883207 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1621G>A (p.Val541Met) single nucleotide variant not provided [RCV003084973] Chr17:39716408 [GRCh38]
Chr17:37872661 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1556A>G (p.His519Arg) single nucleotide variant not provided [RCV003006358] Chr17:39716343 [GRCh38]
Chr17:37872596 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.562C>T (p.Arg188Cys) single nucleotide variant not provided [RCV003085002] Chr17:39709440 [GRCh38]
Chr17:37865693 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2592C>T (p.Phe864=) single nucleotide variant not provided [RCV002602831] Chr17:39725147 [GRCh38]
Chr17:37881400 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1507G>A (p.Glu503Lys) single nucleotide variant not provided [RCV003090601] Chr17:39715933 [GRCh38]
Chr17:37872186 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2523C>T (p.Leu841=) single nucleotide variant not provided [RCV003091789] Chr17:39725078 [GRCh38]
Chr17:37881331 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2280C>T (p.Ser760=) single nucleotide variant not provided [RCV002581805] Chr17:39723983 [GRCh38]
Chr17:37880236 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3006C>T (p.Ser1002=) single nucleotide variant not provided [RCV002602531] Chr17:39726850 [GRCh38]
Chr17:37883103 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.643C>T (p.Leu215=) single nucleotide variant not provided [RCV002962386] Chr17:39709881 [GRCh38]
Chr17:37866134 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1238C>G (p.Ser413Ter) single nucleotide variant not provided [RCV002811849] Chr17:39715461 [GRCh38]
Chr17:37871714 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.332A>G (p.Asn111Ser) single nucleotide variant not provided [RCV002602372] Chr17:39708427 [GRCh38]
Chr17:37864680 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1134G>A (p.Pro378=) single nucleotide variant not provided [RCV002581785] Chr17:39712434 [GRCh38]
Chr17:37868687 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.901+10A>G single nucleotide variant not provided [RCV002581788] Chr17:39710491 [GRCh38]
Chr17:37866744 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.760-13C>T single nucleotide variant not provided [RCV002720433] Chr17:39710327 [GRCh38]
Chr17:37866580 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1335G>A (p.Leu445=) single nucleotide variant not provided [RCV002581596] Chr17:39715761 [GRCh38]
Chr17:37872014 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3573G>A (p.Val1191=) single nucleotide variant not provided [RCV003086860] Chr17:39727849 [GRCh38]
Chr17:37884102 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1176C>G (p.Leu392=) single nucleotide variant not provided [RCV002717122] Chr17:39715313 [GRCh38]
Chr17:37871566 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1677C>T (p.His559=) single nucleotide variant not provided [RCV003088758] Chr17:39716545 [GRCh38]
Chr17:37872798 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3661T>C (p.Tyr1221His) single nucleotide variant not provided [RCV002598321] Chr17:39727937 [GRCh38]
Chr17:37884190 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1738-5C>A single nucleotide variant not provided [RCV002647021] Chr17:39717315 [GRCh38]
Chr17:37873568 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2715G>A (p.Val905=) single nucleotide variant not provided [RCV003088796] Chr17:39725392 [GRCh38]
Chr17:37881645 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.594G>A (p.Met198Ile) single nucleotide variant not provided [RCV002646583] Chr17:39709832 [GRCh38]
Chr17:37866085 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1149-6dup duplication not provided [RCV003061037] Chr17:39715276..39715277 [GRCh38]
Chr17:37871529..37871530 [GRCh37]
Chr17:17q12
benign
NM_004448.4(ERBB2):c.1999T>C (p.Leu667=) single nucleotide variant not provided [RCV002810454] Chr17:39723371 [GRCh38]
Chr17:37879624 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3190G>A (p.Glu1064Lys) single nucleotide variant not provided [RCV003090457] Chr17:39727325 [GRCh38]
Chr17:37883578 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1270G>A (p.Val424Ile) single nucleotide variant not provided [RCV003088603] Chr17:39715493 [GRCh38]
Chr17:37871746 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3058G>T (p.Ala1020Ser) single nucleotide variant not provided [RCV002598517] Chr17:39726902 [GRCh38]
Chr17:37883155 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1933G>A (p.Glu645Lys) single nucleotide variant not provided [RCV002599143] Chr17:39719821 [GRCh38]
Chr17:37876074 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3288G>C (p.Lys1096Asn) single nucleotide variant not provided [RCV002598580] Chr17:39727423 [GRCh38]
Chr17:37883676 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2650-9C>T single nucleotide variant not provided [RCV003088838] Chr17:39725318 [GRCh38]
Chr17:37881571 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2451G>T (p.Leu817=) single nucleotide variant not provided [RCV002581802] Chr17:39724869 [GRCh38]
Chr17:37881122 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.131A>T (p.Asp44Val) single nucleotide variant not provided [RCV002581573] Chr17:39707047 [GRCh38]
Chr17:37863300 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2085+9G>A single nucleotide variant not provided [RCV002599166] Chr17:39723466 [GRCh38]
Chr17:37879719 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3496A>G (p.Thr1166Ala) single nucleotide variant not provided [RCV003086665] Chr17:39727772 [GRCh38]
Chr17:37884025 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2004G>C (p.Gly668=) single nucleotide variant not provided [RCV003093057] Chr17:39723376 [GRCh38]
Chr17:37879629 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1698G>A (p.Glu566=) single nucleotide variant not provided [RCV003093115] Chr17:39716566 [GRCh38]
Chr17:37872819 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1242A>C (p.Ala414=) single nucleotide variant not provided [RCV002606437] Chr17:39715465 [GRCh38]
Chr17:37871718 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2308-10T>C single nucleotide variant not provided [RCV003093033] Chr17:39724716 [GRCh38]
Chr17:37880969 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2086-6C>A single nucleotide variant not provided [RCV002633191] Chr17:39723532 [GRCh38]
Chr17:37879785 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2316C>T (p.Tyr772=) single nucleotide variant not provided [RCV002603034] Chr17:39724734 [GRCh38]
Chr17:37880987 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1738-10C>T single nucleotide variant not provided [RCV003069494] Chr17:39717310 [GRCh38]
Chr17:37873563 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2493+19T>C single nucleotide variant not provided [RCV002608275] Chr17:39724930 [GRCh38]
Chr17:37881183 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1207C>T (p.Leu403=) single nucleotide variant not provided [RCV002604291] Chr17:39715344 [GRCh38]
Chr17:37871597 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3726G>A (p.Thr1242=) single nucleotide variant not provided [RCV003093208] Chr17:39728002 [GRCh38]
Chr17:37884255 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3523C>G (p.Pro1175Ala) single nucleotide variant not provided [RCV002609733] Chr17:39727799 [GRCh38]
Chr17:37884052 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1119C>T (p.Ser373=) single nucleotide variant not provided [RCV002587922] Chr17:39712419 [GRCh38]
Chr17:37868672 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.3487G>A (p.Ala1163Thr) single nucleotide variant not provided [RCV002605883] Chr17:39727763 [GRCh38]
Chr17:37884016 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.74-5G>C single nucleotide variant not provided [RCV002587964] Chr17:39706985 [GRCh38]
Chr17:37863238 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.744G>A (p.Lys248=) single nucleotide variant not provided [RCV002607781] Chr17:39710186 [GRCh38]
Chr17:37866439 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1347C>T (p.Gly449=) single nucleotide variant not provided [RCV002585447] Chr17:39715773 [GRCh38]
Chr17:37872026 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.921C>T (p.Asp307=) single nucleotide variant not provided [RCV002588446] Chr17:39711947 [GRCh38]
Chr17:37868200 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.521A>G (p.His174Arg) single nucleotide variant Inborn genetic diseases [RCV002724083] Chr17:39709399 [GRCh38]
Chr17:37865652 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1415C>T (p.Thr472Ile) single nucleotide variant not provided [RCV003067931] Chr17:39715841 [GRCh38]
Chr17:37872094 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.590C>T (p.Pro197Leu) single nucleotide variant not provided [RCV002582215] Chr17:39709828 [GRCh38]
Chr17:37866081 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1815A>G (p.Lys605=) single nucleotide variant not provided [RCV002610608] Chr17:39717397 [GRCh38]
Chr17:37873650 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2405C>T (p.Pro802Leu) single nucleotide variant Inborn genetic diseases [RCV003208393] Chr17:39724823 [GRCh38]
Chr17:37881076 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2982G>C (p.Leu994Phe) single nucleotide variant Inborn genetic diseases [RCV003354303] Chr17:39726826 [GRCh38]
Chr17:37883079 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.925G>A (p.Gly309Arg) single nucleotide variant Malignant tumor of urinary bladder [RCV003332989] Chr17:39711951 [GRCh38]
Chr17:37868204 [GRCh37]
Chr17:17q12
pathogenic
NM_004448.4(ERBB2):c.2515G>A (p.Val839Met) single nucleotide variant Malignant tumor of urinary bladder [RCV003332934] Chr17:39725070 [GRCh38]
Chr17:37881323 [GRCh37]
Chr17:17q12
pathogenic
NM_004448.4(ERBB2):c.1958C>T (p.Ser653Phe) single nucleotide variant Malignant tumor of urinary bladder [RCV003332990] Chr17:39723330 [GRCh38]
Chr17:37879583 [GRCh37]
Chr17:17q12
pathogenic
NM_004448.4(ERBB2):c.3157A>G (p.Arg1053Gly) single nucleotide variant Inborn genetic diseases [RCV003354207] Chr17:39727001 [GRCh38]
Chr17:37883254 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1513+18G>C single nucleotide variant not provided [RCV003543162] Chr17:39715957 [GRCh38]
Chr17:37872210 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1737+8G>C single nucleotide variant not provided [RCV003873553] Chr17:39716613 [GRCh38]
Chr17:37872866 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.396C>T (p.Ala132=) single nucleotide variant not provided [RCV003875347] Chr17:39708491 [GRCh38]
Chr17:37864744 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2967C>T (p.Ile989=) single nucleotide variant not provided [RCV003428254] Chr17:39726656 [GRCh38]
Chr17:37882909 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.1970C>T (p.Ala657Val) single nucleotide variant not provided [RCV003876565] Chr17:39723342 [GRCh38]
Chr17:37879595 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1523G>C (p.Gly508Ala) single nucleotide variant not provided [RCV003574519] Chr17:39716310 [GRCh38]
Chr17:37872563 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.3029A>G (p.Glu1010Gly) single nucleotide variant not provided [RCV003824553] Chr17:39726873 [GRCh38]
Chr17:37883126 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.644-9G>A single nucleotide variant not provided [RCV003547875] Chr17:39710077 [GRCh38]
Chr17:37866330 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.929C>G (p.Ser310Cys) single nucleotide variant not provided [RCV003714019] Chr17:39711955 [GRCh38]
Chr17:37868208 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.440-12C>T single nucleotide variant not provided [RCV003716024] Chr17:39709306 [GRCh38]
Chr17:37865559 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.2256C>G (p.Ile752Met) single nucleotide variant not provided [RCV003690094] Chr17:39723959 [GRCh38]
Chr17:37880212 [GRCh37]
Chr17:17q12
uncertain significance
NM_004448.4(ERBB2):c.1737+12dup duplication not provided [RCV003660223] Chr17:39716615..39716616 [GRCh38]
Chr17:37872868..37872869 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2991C>T (p.Ala997=) single nucleotide variant not provided [RCV003876104] Chr17:39726835 [GRCh38]
Chr17:37883088 [GRCh37]
Chr17:17q12
likely benign
NM_004448.4(ERBB2):c.2089G>A (p.Val697Met) single nucleotide variant Malignant tumor of urinary bladder [RCV003332933] Chr17:39723541 [GRCh38]
Chr17:37879794 [GRCh37]
Chr17:17q12
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR199Bhsa-miR-199b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23296799
MIR199Bhsa-miR-199b-5pOncomiRDBexternal_infoNANA23296799
MIR559hsa-miR-559Mirtarbaseexternal_infoLuciferase reporter assay//Reporter assay;OtherFunctional MTI19486885
MIR559hsa-miR-559Tarbaseexternal_infoReporter GenePOSITIVE
MIR559hsa-miR-559Mirecordsexternal_infoNANA19486885
MIR559hsa-miR-559OncomiRDBexternal_infoNANA19486885
MIR125B1hsa-miR-125b-5pMirtarbaseexternal_infoWestern blotFunctional MTI19825990
MIR125B1hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//Western bloFunctional MTI20864407
MIR125B1hsa-miR-125b-5pOncomiRDBexternal_infoNANA22460089
MIR125B1hsa-miR-125b-5pOncomiRDBexternal_infoNANA17110380
MIR21hsa-miR-21-5pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI19419954
MIR199A1hsa-miR-199a-5pMirtarbaseexternal_infoWestern blotFunctional MTI23437196
MIR199A1hsa-miR-199a-5pOncomiRDBexternal_infoNANA23437196
MIR125B2hsa-miR-125b-5pMirtarbaseexternal_infoWestern blotFunctional MTI19825990
MIR125B2hsa-miR-125b-5pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//Western bloFunctional MTI20864407
MIR125B2hsa-miR-125b-5pOncomiRDBexternal_infoNANA22460089
MIR125B2hsa-miR-125b-5pOncomiRDBexternal_infoNANA17110380
MIR205hsa-miR-205-5pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI21787752
MIR125Ahsa-miR-125a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI21220473
MIR125Ahsa-miR-125a-5pMirecordsexternal_info{changed}NA17110380
MIR125Ahsa-miR-125a-5pOncomiRDBexternal_infoNANA21220473
MIR125Ahsa-miR-125a-5pOncomiRDBexternal_infoNANA17110380
MIR331hsa-miR-331-3pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//Western bloFunctional MTI20864407
MIR331hsa-miR-331-3pMirecordsexternal_info{changed}NA19584056
MIR331hsa-miR-331-3pOncomiRDBexternal_infoNANA20931396
MIR331hsa-miR-331-3pOncomiRDBexternal_infoNANA19584056

Predicted Target Of
Summary Value
Count of predictions:8793
Count of miRNA genes:1315
Interacting mature miRNAs:1746
Transcripts:ENST00000269571, ENST00000406381, ENST00000445658, ENST00000540042, ENST00000540147, ENST00000541774, ENST00000578199, ENST00000578373, ENST00000578502, ENST00000578630, ENST00000578709, ENST00000580074, ENST00000582648, ENST00000582788, ENST00000582818, ENST00000583038, ENST00000583391, ENST00000584014, ENST00000584099, ENST00000584450, ENST00000584601, ENST00000584684, ENST00000584888, ENST00000584908
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH69066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,881,799 - 37,881,923UniSTSGRCh37
Build 361735,135,325 - 35,135,449RGDNCBI36
Celera1734,541,532 - 34,541,656RGD
Cytogenetic Map17q12UniSTS
HuRef1733,675,543 - 33,675,667UniSTS
GeneMap99-GB4 RH Map17307.34UniSTS
NCBI RH Map17468.9UniSTS
RH75810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,884,689 - 37,884,883UniSTSGRCh37
Build 361735,138,215 - 35,138,409RGDNCBI36
Celera1734,544,422 - 34,544,616RGD
Cytogenetic Map17q12UniSTS
HuRef1733,678,433 - 33,678,627UniSTS
GDB:180968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,880,243 - 37,881,301UniSTSGRCh37
Build 361735,133,769 - 35,134,827RGDNCBI36
Celera1734,539,976 - 34,541,034RGD
Cytogenetic Map17q12UniSTS
HuRef1733,673,965 - 33,675,045UniSTS
GDB:285022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,879,670 - 37,879,866UniSTSGRCh37
Build 361735,133,196 - 35,133,392RGDNCBI36
Celera1734,539,403 - 34,539,599RGD
Cytogenetic Map17q12UniSTS
HuRef1733,673,392 - 33,673,588UniSTS
ERBB2_331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371737,884,178 - 37,884,986UniSTSGRCh37
Build 361735,137,704 - 35,138,512RGDNCBI36
Celera1734,543,911 - 34,544,719RGD
HuRef1733,677,922 - 33,678,730UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
GDB:181407  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q12UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 5 2 6 2
Medium 2417 2124 1258 445 282 287 3754 1656 1393 405 1432 1534 171 875 2374 5
Low 17 733 468 179 1527 178 602 540 2339 12 22 75 4 1 329 414 1 2
Below cutoff 134 141 1 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047435590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054315421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB025285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB025286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB096612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB096613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB096614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB221349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB221350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF177761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH001455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC167147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI755753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM678576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN409735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC346286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM437238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY033940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J05264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA362572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA851628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP753384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC684105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M12036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M86910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M95667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW358920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S57296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000269571   ⟹   ENSP00000269571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,700,064 - 39,728,658 (+)Ensembl
RefSeq Acc Id: ENST00000406381   ⟹   ENSP00000385185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,694,931 - 39,728,662 (+)Ensembl
RefSeq Acc Id: ENST00000445658   ⟹   ENSP00000404047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,699,976 - 39,728,079 (+)Ensembl
RefSeq Acc Id: ENST00000541774   ⟹   ENSP00000446466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,699,560 - 39,728,662 (+)Ensembl
RefSeq Acc Id: ENST00000578199   ⟹   ENSP00000462808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,688,119 - 39,717,657 (+)Ensembl
RefSeq Acc Id: ENST00000578373   ⟹   ENSP00000463427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,700,080 - 39,728,577 (+)Ensembl
RefSeq Acc Id: ENST00000578502   ⟹   ENSP00000464420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,710,356 - 39,715,292 (+)Ensembl
RefSeq Acc Id: ENST00000578630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,716,974 - 39,723,968 (+)Ensembl
RefSeq Acc Id: ENST00000578709   ⟹   ENSP00000463719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,703,194 - 39,708,492 (+)Ensembl
RefSeq Acc Id: ENST00000580074   ⟹   ENSP00000463002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,717,429 - 39,725,203 (+)Ensembl
RefSeq Acc Id: ENST00000582648   ⟹   ENSP00000462024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,700,074 - 39,716,311 (+)Ensembl
RefSeq Acc Id: ENST00000582788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,700,074 - 39,717,655 (+)Ensembl
RefSeq Acc Id: ENST00000582818   ⟹   ENSP00000464252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,716,551 - 39,723,950 (+)Ensembl
RefSeq Acc Id: ENST00000583038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,707,404 - 39,726,351 (+)Ensembl
RefSeq Acc Id: ENST00000583391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,709,244 - 39,710,410 (+)Ensembl
RefSeq Acc Id: ENST00000584014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,688,101 - 39,695,181 (+)Ensembl
RefSeq Acc Id: ENST00000584099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,706,749 - 39,709,385 (+)Ensembl
RefSeq Acc Id: ENST00000584450   ⟹   ENSP00000463714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,700,024 - 39,728,044 (+)Ensembl
RefSeq Acc Id: ENST00000584601   ⟹   ENSP00000462438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,687,914 - 39,728,361 (+)Ensembl
RefSeq Acc Id: ENST00000584684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,717,343 - 39,720,297 (+)Ensembl
RefSeq Acc Id: ENST00000584888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,728,386 - 39,730,426 (+)Ensembl
RefSeq Acc Id: ENST00000584908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1739,700,227 - 39,712,330 (+)Ensembl
RefSeq Acc Id: NM_001005862   ⟹   NP_001005862
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,688,094 - 39,728,658 (+)NCBI
GRCh371737,844,167 - 37,884,915 (+)NCBI
Build 361735,097,919 - 35,138,441 (+)NCBI Archive
HuRef1733,638,318 - 33,678,659 (+)ENTREZGENE
CHM1_11738,080,121 - 38,120,667 (+)NCBI
T2T-CHM13v2.01740,551,660 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289936   ⟹   NP_001276865
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,688,094 - 39,728,658 (+)NCBI
CHM1_11738,080,121 - 38,120,667 (+)NCBI
T2T-CHM13v2.01740,551,660 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289937   ⟹   NP_001276866
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
CHM1_11738,091,968 - 38,120,667 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289938   ⟹   NP_001276867
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,688,094 - 39,717,657 (+)NCBI
CHM1_11738,080,121 - 38,109,647 (+)NCBI
T2T-CHM13v2.01740,551,660 - 40,581,217 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382782   ⟹   NP_001369711
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,688,094 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,551,660 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382783   ⟹   NP_001369712
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382784   ⟹   NP_001369713
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382785   ⟹   NP_001369714
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382786   ⟹   NP_001369715
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382787   ⟹   NP_001369716
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382788   ⟹   NP_001369717
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382789   ⟹   NP_001369718
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382790   ⟹   NP_001369719
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382791   ⟹   NP_001369720
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382792   ⟹   NP_001369721
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382793   ⟹   NP_001369722
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382794   ⟹   NP_001369723
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382795   ⟹   NP_001369724
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382796   ⟹   NP_001369725
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382797   ⟹   NP_001369726
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382798   ⟹   NP_001369727
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382799   ⟹   NP_001369728
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382800   ⟹   NP_001369729
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382801   ⟹   NP_001369730
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382802   ⟹   NP_001369731
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382803   ⟹   NP_001369732
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382804   ⟹   NP_001369733
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382805   ⟹   NP_001369734
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382806   ⟹   NP_001369735
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004448   ⟹   NP_004439
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
GRCh371737,844,167 - 37,884,915 (+)NCBI
Build 361735,109,780 - 35,138,441 (+)NCBI Archive
HuRef1733,638,318 - 33,678,659 (+)ENTREZGENE
CHM1_11738,091,968 - 38,120,667 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: NR_110535
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,728,658 (+)NCBI
CHM1_11738,091,968 - 38,120,667 (+)NCBI
T2T-CHM13v2.01740,563,624 - 40,592,218 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047435590   ⟹   XP_047291546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,688,094 - 39,728,658 (+)NCBI
RefSeq Acc Id: XM_054315421   ⟹   XP_054171396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01740,551,660 - 40,592,218 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001005862 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276865 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276866 (Get FASTA)   NCBI Sequence Viewer  
  NP_001276867 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369711 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369712 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369713 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369714 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369715 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369716 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369717 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369718 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369719 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369720 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369721 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369722 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369723 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369724 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369725 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369726 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369727 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369728 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369729 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369730 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369731 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369732 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369733 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369734 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369735 (Get FASTA)   NCBI Sequence Viewer  
  NP_004439 (Get FASTA)   NCBI Sequence Viewer  
  XP_047291546 (Get FASTA)   NCBI Sequence Viewer  
  XP_054171396 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35808 (Get FASTA)   NCBI Sequence Viewer  
  AAA35809 (Get FASTA)   NCBI Sequence Viewer  
  AAA35978 (Get FASTA)   NCBI Sequence Viewer  
  AAA58637 (Get FASTA)   NCBI Sequence Viewer  
  AAA75493 (Get FASTA)   NCBI Sequence Viewer  
  AAC37531 (Get FASTA)   NCBI Sequence Viewer  
  AAD14920 (Get FASTA)   NCBI Sequence Viewer  
  AAD15229 (Get FASTA)   NCBI Sequence Viewer  
  AAD56009 (Get FASTA)   NCBI Sequence Viewer  
  AAF30295 (Get FASTA)   NCBI Sequence Viewer  
  AAI67147 (Get FASTA)   NCBI Sequence Viewer  
  AAO18082 (Get FASTA)   NCBI Sequence Viewer  
  ADN43069 (Get FASTA)   NCBI Sequence Viewer  
  AHW56471 (Get FASTA)   NCBI Sequence Viewer  
  AHW56472 (Get FASTA)   NCBI Sequence Viewer  
  AHW56604 (Get FASTA)   NCBI Sequence Viewer  
  ALD10298 (Get FASTA)   NCBI Sequence Viewer  
  BAE15959 (Get FASTA)   NCBI Sequence Viewer  
  BAE15960 (Get FASTA)   NCBI Sequence Viewer  
  BAG58195 (Get FASTA)   NCBI Sequence Viewer  
  BAG59464 (Get FASTA)   NCBI Sequence Viewer  
  BAG62073 (Get FASTA)   NCBI Sequence Viewer  
  BDG00824 (Get FASTA)   NCBI Sequence Viewer  
  CAA27060 (Get FASTA)   NCBI Sequence Viewer  
  CCA94568 (Get FASTA)   NCBI Sequence Viewer  
  CCQ77584 (Get FASTA)   NCBI Sequence Viewer  
  EAW60595 (Get FASTA)   NCBI Sequence Viewer  
  EAW60596 (Get FASTA)   NCBI Sequence Viewer  
  EAW60597 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000269571
  ENSP00000269571.4
  ENSP00000385185.2
  ENSP00000404047
  ENSP00000404047.2
  ENSP00000446466
  ENSP00000446466.1
  ENSP00000462024.1
  ENSP00000462438
  ENSP00000462438.1
  ENSP00000462808
  ENSP00000462808.1
  ENSP00000463002.1
  ENSP00000463427.1
  ENSP00000463714
  ENSP00000463714.1
  ENSP00000463719.1
  ENSP00000464252.1
  ENSP00000464420.1
GenBank Protein P04626 (Get FASTA)   NCBI Sequence Viewer  
  QSQ86066 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001005862   ⟸   NM_001005862
- Peptide Label: isoform b
- UniProtKB: P04626 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004439   ⟸   NM_004448
- Peptide Label: isoform a precursor
- UniProtKB: Q9UMK4 (UniProtKB/Swiss-Prot),   Q6LDV1 (UniProtKB/Swiss-Prot),   Q14256 (UniProtKB/Swiss-Prot),   B4DHN3 (UniProtKB/Swiss-Prot),   B2RZG3 (UniProtKB/Swiss-Prot),   X5D2V5 (UniProtKB/Swiss-Prot),   P04626 (UniProtKB/Swiss-Prot),   X5DNK3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276865   ⟸   NM_001289936
- Peptide Label: isoform c
- UniProtKB: P04626 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001276867   ⟸   NM_001289938
- Peptide Label: isoform e
- UniProtKB: F5H1T4 (UniProtKB/TrEMBL),   B4DLA2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276866   ⟸   NM_001289937
- Peptide Label: isoform d precursor
- UniProtKB: J3QLU9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001369711   ⟸   NM_001382782
- Peptide Label: isoform b
RefSeq Acc Id: NP_001369712   ⟸   NM_001382783
- Peptide Label: isoform b
RefSeq Acc Id: NP_001369716   ⟸   NM_001382787
- Peptide Label: isoform i precursor
RefSeq Acc Id: NP_001369713   ⟸   NM_001382784
- Peptide Label: isoform f precursor
RefSeq Acc Id: NP_001369715   ⟸   NM_001382786
- Peptide Label: isoform h precursor
RefSeq Acc Id: NP_001369718   ⟸   NM_001382789
- Peptide Label: isoform k precursor
RefSeq Acc Id: NP_001369717   ⟸   NM_001382788
- Peptide Label: isoform j precursor
RefSeq Acc Id: NP_001369714   ⟸   NM_001382785
- Peptide Label: isoform g precursor
RefSeq Acc Id: NP_001369725   ⟸   NM_001382796
- Peptide Label: isoform r precursor
RefSeq Acc Id: NP_001369727   ⟸   NM_001382798
- Peptide Label: isoform t precursor
RefSeq Acc Id: NP_001369729   ⟸   NM_001382800
- Peptide Label: isoform v precursor
RefSeq Acc Id: NP_001369726   ⟸   NM_001382797
- Peptide Label: isoform s precursor
RefSeq Acc Id: NP_001369734   ⟸   NM_001382805
- Peptide Label: isoform aa precursor
RefSeq Acc Id: NP_001369721   ⟸   NM_001382792
- Peptide Label: isoform n precursor
RefSeq Acc Id: NP_001369722   ⟸   NM_001382793
- Peptide Label: isoform o precursor
RefSeq Acc Id: NP_001369732   ⟸   NM_001382803
- Peptide Label: isoform y precursor
RefSeq Acc Id: NP_001369723   ⟸   NM_001382794
- Peptide Label: isoform p precorsor precursor
RefSeq Acc Id: NP_001369724   ⟸   NM_001382795
- Peptide Label: isoform q precursor
RefSeq Acc Id: NP_001369730   ⟸   NM_001382801
- Peptide Label: isoform w precursor
RefSeq Acc Id: NP_001369719   ⟸   NM_001382790
- Peptide Label: isoform l precursor
RefSeq Acc Id: NP_001369735   ⟸   NM_001382806
- Peptide Label: isoform bb precursor
RefSeq Acc Id: NP_001369731   ⟸   NM_001382802
- Peptide Label: isoform x precursor
RefSeq Acc Id: NP_001369728   ⟸   NM_001382799
- Peptide Label: isoform u precursor
RefSeq Acc Id: NP_001369720   ⟸   NM_001382791
- Peptide Label: isoform m precursor
RefSeq Acc Id: NP_001369733   ⟸   NM_001382804
- Peptide Label: isoform z precursor
- UniProtKB: B4DTR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000446466   ⟸   ENST00000541774
RefSeq Acc Id: ENSP00000463002   ⟸   ENST00000580074
RefSeq Acc Id: ENSP00000462024   ⟸   ENST00000582648
RefSeq Acc Id: ENSP00000464252   ⟸   ENST00000582818
RefSeq Acc Id: ENSP00000269571   ⟸   ENST00000269571
RefSeq Acc Id: ENSP00000463714   ⟸   ENST00000584450
RefSeq Acc Id: ENSP00000462438   ⟸   ENST00000584601
RefSeq Acc Id: ENSP00000385185   ⟸   ENST00000406381
RefSeq Acc Id: ENSP00000404047   ⟸   ENST00000445658
RefSeq Acc Id: ENSP00000464420   ⟸   ENST00000578502
RefSeq Acc Id: ENSP00000463427   ⟸   ENST00000578373
RefSeq Acc Id: ENSP00000463719   ⟸   ENST00000578709
RefSeq Acc Id: ENSP00000462808   ⟸   ENST00000578199
RefSeq Acc Id: XP_047291546   ⟸   XM_047435590
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054171396   ⟸   XM_054315421
- Peptide Label: isoform X1
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04626-F1-model_v2 AlphaFold P04626 1-1255 view protein structure

Promoters
RGD ID:6794480
Promoter ID:HG_KWN:26001
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000309862,   NM_001005862,   NM_033419,   UC002HSK.1,   UC002HSL.2,   UC010CVZ.1,   UC010CWA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361735,097,589 - 35,098,089 (-)MPROMDB
RGD ID:6794216
Promoter ID:HG_KWN:26003
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_004448,   UC002HSN.1,   UC002HSP.1,   UC010CWB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361735,109,556 - 35,110,056 (+)MPROMDB
RGD ID:6850172
Promoter ID:EP15045
Type:multiple initiation site
Name:HS_ERBB2_1
Description:Cellular-(Avian) erythroblastosis virus oncogene B2,Ethyl-nitrosurea-induced rat neuroblastoma oncogene
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP15046  
Tissues & Cell Lines:placenta > kidney > liver > brain
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 361735,109,767 - 35,109,827EPD
RGD ID:6850174
Promoter ID:EP15046
Type:single initiation site
Name:HS_ERBB2_2
Description:Cellular-(Avian) erythroblastosis virus oncogene B2,Ethyl-nitrosurea-induced rat neuroblastoma oncogene
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 1; site 2; major promoter.; see alsoEP15045  
Tissues & Cell Lines:fibroblasts, placenta
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 361735,109,840 - 35,109,900EPD
RGD ID:6811163
Promoter ID:HG_ACW:34373
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ERBB2.PAPR07,   ERBB2.RAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 361735,134,491 - 35,134,991 (+)MPROMDB
RGD ID:7234863
Promoter ID:EPDNEW_H23177
Type:initiation region
Name:ERBB2_2
Description:erb-b2 receptor tyrosine kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23178  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,688,094 - 39,688,154EPDNEW
RGD ID:7234865
Promoter ID:EPDNEW_H23178
Type:initiation region
Name:ERBB2_1
Description:erb-b2 receptor tyrosine kinase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23177  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381739,700,064 - 39,700,124EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3430 AgrOrtholog
COSMIC ERBB2 COSMIC
Ensembl Genes ENSG00000141736 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000269571 ENTREZGENE
  ENST00000269571.10 UniProtKB/Swiss-Prot
  ENST00000406381.6 UniProtKB/Swiss-Prot
  ENST00000445658 ENTREZGENE
  ENST00000445658.6 UniProtKB/TrEMBL
  ENST00000541774 ENTREZGENE
  ENST00000541774.5 UniProtKB/Swiss-Prot
  ENST00000578199 ENTREZGENE
  ENST00000578199.5 UniProtKB/TrEMBL
  ENST00000578373 ENTREZGENE
  ENST00000578373.5 UniProtKB/TrEMBL
  ENST00000578502.1 UniProtKB/TrEMBL
  ENST00000578709.5 UniProtKB/TrEMBL
  ENST00000580074.1 UniProtKB/TrEMBL
  ENST00000582648.5 UniProtKB/TrEMBL
  ENST00000582818.5 UniProtKB/TrEMBL
  ENST00000584450 ENTREZGENE
  ENST00000584450.5 UniProtKB/TrEMBL
  ENST00000584601 ENTREZGENE
  ENST00000584601.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.80.20.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cytochrome c1, transmembrane anchor, C-terminal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  membrane-bound form of the juxtamembrane domain of the epidermal growth factor receptor like domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000141736 GTEx
HGNC ID HGNC:3430 ENTREZGENE
Human Proteome Map ERBB2 Human Proteome Map
InterPro Furin-like_Cys-rich_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Furin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GF_recep_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rcpt_L-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rcpt_L-dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TM_ErbB1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_EGF/ERB/XmrK_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2064 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2064 ENTREZGENE
OMIM 164870 OMIM
PANTHER PROTEIN GVQW1-RELATED UniProtKB/TrEMBL
  RECEPTOR TYROSINE-PROTEIN KINASE ERBB-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYROSINE-PROTEIN KINASE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Furin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GF_recep_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Recep_L_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TM_ErbB1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ERBB2 RGD, PharmGKB
PIRSF TyrPK_EGF-R UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00261 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0R9RWK2_HUMAN UniProtKB/TrEMBL
  A0A7T8JKQ4_HUMAN UniProtKB/TrEMBL
  B2RZG3 ENTREZGENE
  B4DHN3 ENTREZGENE
  B4DLA2 ENTREZGENE, UniProtKB/TrEMBL
  B4DTR1 ENTREZGENE, UniProtKB/TrEMBL
  E2I6F8_HUMAN UniProtKB/TrEMBL
  ERBB2_HUMAN UniProtKB/Swiss-Prot
  F5H1T4 ENTREZGENE, UniProtKB/TrEMBL
  J3KRI9_HUMAN UniProtKB/TrEMBL
  J3KTI5_HUMAN UniProtKB/TrEMBL
  J3QL83_HUMAN UniProtKB/TrEMBL
  J3QLU9 ENTREZGENE, UniProtKB/TrEMBL
  J3QLV2_HUMAN UniProtKB/TrEMBL
  J3QRJ7_HUMAN UniProtKB/TrEMBL
  J3QRX1_HUMAN UniProtKB/TrEMBL
  L8E8G2_HUMAN UniProtKB/TrEMBL
  P04626 ENTREZGENE
  Q14256 ENTREZGENE
  Q4H1F1_HUMAN UniProtKB/TrEMBL
  Q4H1F2_HUMAN UniProtKB/TrEMBL
  Q6LDV1 ENTREZGENE
  Q9NP09_HUMAN UniProtKB/TrEMBL
  Q9UMK4 ENTREZGENE
  X5D2V5 ENTREZGENE
  X5DNK3 ENTREZGENE, UniProtKB/TrEMBL
  X5DQX2_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RZG3 UniProtKB/Swiss-Prot
  B4DHN3 UniProtKB/Swiss-Prot
  Q14256 UniProtKB/Swiss-Prot
  Q6LDV1 UniProtKB/Swiss-Prot
  Q9UMK4 UniProtKB/Swiss-Prot
  X5D2V5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-12-23 ERBB2  erb-b2 receptor tyrosine kinase 2  ERBB2  v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2  Symbol and/or name change 5135510 APPROVED
2013-07-16 ERBB2  v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2  ERBB2  v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)  Symbol and/or name change 5135510 APPROVED