SMAD2 (SMAD family member 2) - Rat Genome Database

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Gene: SMAD2 (SMAD family member 2) Homo sapiens
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Symbol: SMAD2
Name: SMAD family member 2
RGD ID: 1347299
HGNC Page HGNC:6768
Description: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; SMAD binding activity; and enzyme binding activity. Contributes to DNA binding activity and DNA-binding transcription factor activity. Involved in several processes, including regulation of DNA-templated transcription; regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and transforming growth factor beta receptor superfamily signaling pathway. Acts upstream of or within SMAD protein signal transduction. Located in chromatin; cytoplasm; and nucleus. Part of activin responsive factor complex; heteromeric SMAD protein complex; and homomeric SMAD protein complex. Implicated in Loeys-Dietz syndrome 6; Lynch syndrome; cervical cancer; and ovarian cancer. Biomarker of breast carcinoma; female reproductive organ cancer (multiple); idiopathic pulmonary fibrosis; pancreatic cancer (multiple); and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CHTD8; hMAD-2; hSMAD2; JV18; JV18-1; LDS6; MAD homolog 2; Mad protein homolog; MAD, mothers against decapentaplegic homolog 2; Mad-related protein 2; MADH2; MADR2; MGC22139; MGC34440; mother against DPP homolog 2; mothers against decapentaplegic homolog 2; mothers against DPP homolog 2; Sma- and Mad-related protein 2; SMAD 2; SMAD, mothers against DPP homolog 2; smad, mothers against dpp homolog 2 (drosophila)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381847,808,957 - 47,930,872 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1847,808,957 - 47,931,146 (-)EnsemblGRCh38hg38GRCh38
GRCh371845,335,328 - 45,457,243 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361843,613,464 - 43,711,510 (-)NCBINCBI36Build 36hg18NCBI36
Build 341843,618,434 - 43,710,924NCBI
Celera1842,208,816 - 42,306,655 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1842,208,822 - 42,306,925 (-)NCBIHuRef
CHM1_11845,354,416 - 45,452,506 (-)NCBICHM1_1
T2T-CHM13v2.01847,999,960 - 48,121,861 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(20S)-ginsenoside Rg3  (EXP)
(R)-lipoic acid  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-hydroxypropanoic acid  (EXP)
2-methoxy-17beta-estradiol  (ISO)
2-methoxyethanol  (ISO)
3,4-dihydroxybenzaldehyde  (EXP)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-phenylprop-2-enal  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-nitrophenol  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP)
aconitic acid  (EXP,ISO)
acteoside  (EXP)
aldehydo-D-glucosamine  (EXP)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
amlodipine  (EXP)
ammonium chloride  (ISO)
Ammothamnine  (ISO)
andrographolide  (ISO)
anthocyanin  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
asbestos  (EXP)
atrazine  (EXP)
bellidifolin  (ISO)
benazepril  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
beta-aminopropionitrile  (ISO)
beta-D-glucosamine  (EXP)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
caffeine  (ISO)
camostat  (ISO)
carbofuran  (ISO)
carnosine  (ISO)
ceruletide  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (EXP)
chromium atom  (ISO)
chrysin  (ISO)
cisplatin  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (ISO)
corticosterone  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
crocin-1  (ISO)
curcumin  (ISO)
cyclosporin A  (ISO)
cytochalasin D  (EXP)
D-glucose  (EXP,ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibenziodolium  (ISO)
diethylstilbestrol  (ISO)
dimethyl sulfoxide  (EXP)
diminazene diaceturate  (EXP)
dioxygen  (EXP,ISO)
disodium selenite  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
enalapril  (ISO)
endosulfan  (EXP)
Enterolactone  (EXP)
entinostat  (EXP)
ethanol  (ISO)
etoposide  (EXP)
farrerol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
galangin  (EXP)
genistein  (ISO)
gentamycin  (ISO)
glucose  (EXP,ISO)
heptachlor  (EXP)
hispidin  (ISO)
Honokiol  (EXP,ISO)
hyaluronic acid  (EXP)
hydrogen peroxide  (EXP)
irbesartan  (ISO)
Isoangustone A  (EXP)
isoprenaline  (ISO)
isorhamnetin  (EXP)
ivermectin  (EXP)
leptomycin B  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP,ISO)
LY-2157299  (ISO)
LY294002  (EXP)
melphalan  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
methyl beta-cyclodextrin  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
microcystin-LR  (EXP)
mitoxantrone  (EXP)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (ISO)
nickel dichloride  (ISO)
niclosamide  (EXP)
nicotine  (ISO)
nitrofen  (ISO)
ochratoxin A  (EXP,ISO)
oridonin  (EXP)
osthole  (EXP)
ozone  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (EXP,ISO)
paricalcitol  (ISO)
patulin  (ISO)
phenobarbital  (EXP)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
phloroglucinol  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
Phyllanthin  (ISO)
platycodin D  (EXP)
procymidone  (ISO)
progesterone  (EXP,ISO)
propiconazole  (EXP)
propofol  (EXP)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
raloxifene  (EXP)
ramipril  (ISO)
resveratrol  (EXP,ISO)
rutin  (ISO)
salubrinal  (ISO)
SB 203580  (ISO)
SB 431542  (EXP,ISO)
serpentine asbestos  (EXP)
sevoflurane  (EXP)
silver(1+) nitrate  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP,ISO)
sodium nitrite  (ISO)
Soman  (ISO)
sorafenib  (ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tamibarotene  (EXP)
tamoxifen  (EXP)
testosterone enanthate  (ISO)
tetrachloromethane  (ISO)
tetramethylpyrazine  (ISO)
theobromine  (ISO)
theophylline  (EXP)
thioacetamide  (ISO)
Thrombin  (EXP)
titanium dioxide  (ISO)
tolfenamic acid  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
verapamil  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
vorinostat  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activin receptor signaling pathway  (IBA,IMP,NAS)
adrenal gland development  (IEA,ISO)
anatomical structure morphogenesis  (IBA)
anterior/posterior pattern specification  (IEA,ISO,ISS)
aortic valve morphogenesis  (IEA,ISS)
cell differentiation  (IBA)
cell fate commitment  (IEA,ISO,ISS)
cell population proliferation  (IEA,ISO)
cellular response to glucose stimulus  (IEA,ISO)
cellular response to transforming growth factor beta stimulus  (IEA,ISO)
determination of left/right asymmetry in lateral mesoderm  (IMP)
developmental growth  (IEA,ISO)
DNA-templated transcription  (NAS)
embryonic cranial skeleton morphogenesis  (IEA,ISO)
embryonic foregut morphogenesis  (IEA,ISO)
embryonic pattern specification  (IEA,ISO)
endocardial cushion morphogenesis  (IEA,ISS)
endoderm development  (IEA,ISO)
endoderm formation  (IEA,ISO)
gastrulation  (IEA,ISO,TAS)
heart development  (IEA,ISO)
in utero embryonic development  (IEA,ISO)
insulin secretion  (IEA,ISO)
intracellular signal transduction  (IEA,ISO,ISS)
lung development  (IEA,ISO)
mesoderm formation  (IEA,ISO,ISS)
negative regulation of cell population proliferation  (IEA,ISO)
negative regulation of DNA-templated transcription  (IMP)
negative regulation of gene expression  (IEA,ISO)
negative regulation of ossification  (IDA)
nodal signaling pathway  (IMP)
odontoblast differentiation  (IEA,ISS)
organ growth  (IEA,ISO)
pancreas development  (IEA,ISO)
paraxial mesoderm morphogenesis  (IEA,ISO,ISS)
pattern specification process  (IEA,ISO)
pericardium development  (IEA,ISO)
positive regulation of BMP signaling pathway  (IMP)
positive regulation of DNA-templated transcription  (IDA,IEA,IMP,ISO,ISS)
positive regulation of epithelial to mesenchymal transition  (IEA,ISS)
positive regulation of gene expression  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,IEA,ISO,ISS)
post-embryonic development  (IEA,ISO)
primary miRNA processing  (TAS)
protein phosphorylation  (ISO)
pulmonary valve morphogenesis  (IEA,ISS)
regulation of DNA-templated transcription  (IEA,NAS)
regulation of gene expression  (IEA)
regulation of transforming growth factor beta receptor signaling pathway  (IMP)
response to cholesterol  (IDA)
response to glucose  (IEA,ISO)
response to transforming growth factor beta  (IEA,ISO)
secondary palate development  (IEA,ISS)
signal transduction involved in regulation of gene expression  (IEA)
SMAD protein signal transduction  (IBA,IDA,IEA,IMP)
transforming growth factor beta receptor signaling pathway  (IBA,IDA,IEA,IMP,ISO,ISS,NAS)
ureteric bud development  (IEA)
zygotic specification of dorsal/ventral axis  (IMP)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal aortic aneurysm  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality iris morphology  (IAGP)
Abnormality of connective tissue  (IAGP)
Adult onset  (IAGP)
Allergy  (IAGP)
Anomalous pulmonary venous return  (IAGP)
Aortic aneurysm  (IAGP)
Aortic dissection  (IAGP)
Aortic regurgitation  (IAGP)
Aortic root aneurysm  (IAGP)
Aortic tortuosity  (IAGP)
Arachnodactyly  (IAGP)
Arterial dissection  (IAGP)
Arterial tortuosity  (IAGP)
Arthralgia  (IAGP)
Ascending aortic dissection  (IAGP)
Asplenia  (IAGP)
Atrial septal defect  (IAGP)
Atypical scarring of skin  (IAGP)
Autoimmunity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Bifid uvula  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Blue sclerae  (IAGP)
Broad forehead  (IAGP)
Broad uvula  (IAGP)
Bruising susceptibility  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiac arrest  (IAGP)
Cardiomegaly  (IAGP)
Carotid artery dilatation  (IAGP)
Carotid artery dissection  (IAGP)
Carotid artery tortuosity  (IAGP)
Chest pain  (IAGP)
Childhood onset  (IAGP)
Chronic fatigue  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital onset  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Craniosynostosis  (IAGP)
Cutis marmorata  (IAGP)
Dermal translucency  (IAGP)
Descending aortic dissection  (IAGP)
Descending thoracic aorta aneurysm  (IAGP)
Dextrocardia  (IAGP)
Dextrotransposition of the great arteries  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Disproportionate tall stature  (IAGP)
Dolichocephaly  (IAGP)
Double outlet right ventricle  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dural ectasia  (IAGP)
Exertional dyspnea  (IAGP)
Global developmental delay  (IAGP)
Hemoptysis  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hip osteoarthritis  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypovolemia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intervertebral disk degeneration  (IAGP)
Intestinal malrotation  (IAGP)
Ischemic stroke  (IAGP)
Isomerism  (IAGP)
Joint dislocation  (IAGP)
Joint hypermobility  (IAGP)
Knee osteoarthritis  (IAGP)
Laryngomalacia  (IAGP)
Late onset  (IAGP)
Left superior vena cava draining directly to the left atrium  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Micrognathia  (IAGP)
Middle age onset  (IAGP)
Midface retrusion  (IAGP)
Migraine  (IAGP)
Mucoid extracellular matrix accumulation  (IAGP)
Orofacial cleft  (IAGP)
Osteoarthritis  (IAGP)
Osteochondritis dissecans  (IAGP)
Paroxysmal dyspnea  (IAGP)
Partial anomalous pulmonary venous return  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Peripheral arterial stenosis  (IAGP)
Pes planus  (IAGP)
Pneumothorax  (IAGP)
Posteriorly rotated ears  (IAGP)
Pregnancy history  (IAGP)
Pulmonic stenosis  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short stature  (IAGP)
Soft skin  (IAGP)
Solitary median maxillary central incisor  (IAGP)
Spontaneous pneumothorax  (IAGP)
Striae distensae  (IAGP)
Stroke  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Subglottic stenosis  (IAGP)
Tall stature  (IAGP)
Thin skin  (IAGP)
Thoracic aortic aneurysm  (IAGP)
Toe syndactyly  (IAGP)
Transient ischemic attack  (IAGP)
Umbilical hernia  (IAGP)
Unbalanced atrioventricular canal defect  (IAGP)
Uterine rupture  (IAGP)
Varicose veins  (IAGP)
Vascular dilatation  (IAGP)
Ventricular hypertrophy  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral artery aneurysm  (IAGP)
Vertebral artery tortuosity  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Molecular mechanisms of TGF beta receptor-triggered signaling cascades rapidly induced by the calcineurin inhibitors cyclosporin A and FK506. Akool el-S, etal., J Immunol. 2008 Aug 15;181(4):2831-45.
2. Gene expression correlating with response to paclitaxel in ovarian carcinoma xenografts. Bani MR, etal., Mol Cancer Ther. 2004 Feb;3(2):111-21.
3. Cardioprotective role of growth/differentiation factor 1 in post-infarction left ventricular remodelling and dysfunction. Bao MW, etal., J Pathol. 2015 Jul;236(3):360-72. doi: 10.1002/path.4523. Epub 2015 Mar 30.
4. The development of a mouse model of ovarian endosalpingiosis. Bristol-Gould SK, etal., Endocrinology. 2005 Dec;146(12):5228-36. Epub 2005 Sep 1.
5. Transforming growth factor-beta pathway in human renal cell carcinoma and surrounding normal-appearing renal parenchyma. Cardillo MR, etal., Anal Quant Cytol Histol. 2001 Apr;23(2):109-17.
6. Ovarian follicle populations of the rat express TGF-beta signalling pathways. Drummond AE, etal., Mol Cell Endocrinol. 2003 Apr 28;202(1-2):53-7.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Interaction between angiotensin II and Smad proteins in fibroblasts in failing heart and in vitro. Hao J, etal., Am J Physiol Heart Circ Physiol. 2000 Dec;279(6):H3020-30.
9. [Changes in TGF-beta1/Smads signaling pathway in rats with chemical hepatocarcinogenesis]. Hua YP, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2008 Oct;28(10):1848-52.
10. Overexpression of Smad2 and colocalization with TGF-beta1 in human pancreatic cancer. Kleeff J, etal., Dig Dis Sci. 1999 Sep;44(9):1793-802.
11. Lefty1 Ameliorates Post-infarction Fibrosis by Suppressing p-Smad2 and p-ERK1/2 Signaling Pathways. Li CY, etal., J Cardiovasc Transl Res. 2021 Aug;14(4):636-646. doi: 10.1007/s12265-020-10089-2. Epub 2021 Jan 6.
12. cAMP inhibits transforming growth factor-beta-stimulated collagen synthesis via inhibition of extracellular signal-regulated kinase 1/2 and Smad signaling in cardiac fibroblasts. Liu X, etal., Mol Pharmacol. 2006 Dec;70(6):1992-2003. Epub 2006 Sep 7.
13. Loss of expression, and mutations of Smad 2 and Smad 4 in human cervical cancer. Maliekal TT, etal., Oncogene. 2003 Jul 31;22(31):4889-97.
14. TGFbeta in Cancer. Massagué J, Cell. 2008 Jul 25;134(2):215-30. doi: 10.1016/j.cell.2008.07.001.
15. Altered expression of Smad family members in injured motor neurons of rat. Okuyama N, etal., Brain Res. 2007 Feb 9;1132(1):36-41. Epub 2006 Dec 12.
16. Expression and intracellular localization of Smad proteins in human endometrial cancer. Piestrzeniewicz-Ulanska D, etal., Oncol Rep. 2003 Sep-Oct;10(5):1539-44.
17. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
18. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
19. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
21. Mutation analysis of SMAD2, SMAD3, and SMAD4 genes in hereditary non-polyposis colorectal. Roth S, etal., J Med Genet. 2000 Apr;37(4):298-300.
22. Mechanisms of TGF-beta signaling from cell membrane to the nucleus. Shi Y and Massague J, Cell. 2003 Jun 13;113(6):685-700.
23. Oncopreventive effects of theanine and theobromine on dimethylhydrazine-induced colon cancer model. Shojaei-Zarghani S, etal., Biomed Pharmacother. 2021 Feb;134:111140. doi: 10.1016/j.biopha.2020.111140. Epub 2020 Dec 24.
24. MicroRNA-323-3p inhibits cell invasion and metastasis in pancreatic ductal adenocarcinoma via direct suppression of SMAD2 and SMAD3. Wang C, etal., Oncotarget. 2016 Mar 22;7(12):14912-24. doi: 10.18632/oncotarget.7482.
25. MicroRNA-31/184 is involved in transforming growth factor-β-induced apoptosis in A549 human alveolar adenocarcinoma cells. Wang CJ, etal., Life Sci. 2020 Feb 1;242:117205. doi: 10.1016/j.lfs.2019.117205. Epub 2019 Dec 23.
26. Analysis of specific gene mutations in the transforming growth factor-beta signal transduction pathway in human ovarian cancer. Wang D, etal., Cancer Res. 2000 Aug 15;60(16):4507-12.
27. Alterations of Smad signaling in human breast carcinoma are associated with poor outcome: a tissue microarray study. Xie W, etal., Cancer Res. 2002 Jan 15;62(2):497-505.
28. TGF-beta signaling alterations and susceptibility to colorectal cancer. Xu Y and Pasche B, Hum Mol Genet. 2007 Apr 15;16 Spec No 1:R14-20.
29. Altered gene expression profile in mouse bladder cancers induced by hydroxybutyl(butyl)nitrosamine. Yao R, etal., Neoplasia. 2004 Sep-Oct;6(5):569-77.
Additional References at PubMed
PMID:8617505   PMID:8673135   PMID:8752209   PMID:8774881   PMID:8861901   PMID:8889549   PMID:8893010   PMID:8980228   PMID:9006934   PMID:9092546   PMID:9111321   PMID:9136927  
PMID:9214507   PMID:9256479   PMID:9288972   PMID:9311995   PMID:9346908   PMID:9389648   PMID:9436979   PMID:9503010   PMID:9525694   PMID:9679056   PMID:9702197   PMID:9702198  
PMID:9732876   PMID:9759503   PMID:9820171   PMID:9843199   PMID:9858566   PMID:9865696   PMID:9873005   PMID:9892009   PMID:10085121   PMID:10197981   PMID:10199400   PMID:10220381  
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PMID:10708949   PMID:10757800   PMID:10781087   PMID:10823886   PMID:10825365   PMID:10863401   PMID:10878024   PMID:10887155   PMID:10890911   PMID:10938097   PMID:11016919   PMID:11027280  
PMID:11042172   PMID:11043574   PMID:11058129   PMID:11094085   PMID:11100470   PMID:11102446   PMID:11114293   PMID:11118211   PMID:11158580   PMID:11160896   PMID:11163184   PMID:11226163  
PMID:11229886   PMID:11264182   PMID:11274206   PMID:11278302   PMID:11278756   PMID:11359933   PMID:11371641   PMID:11387212   PMID:11387330   PMID:11389444   PMID:11438668   PMID:11555647  
PMID:11691834   PMID:11779503   PMID:11804592   PMID:11879191   PMID:11927552   PMID:12000714   PMID:12023901   PMID:12034730   PMID:12034739   PMID:12097320   PMID:12105419   PMID:12150994  
PMID:12165866   PMID:12167862   PMID:12170265   PMID:12191473   PMID:12191474   PMID:12193595   PMID:12202987   PMID:12237408   PMID:12354674   PMID:12370310   PMID:12393416   PMID:12411310  
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PMID:12732634   PMID:12743038   PMID:12760775   PMID:12764135   PMID:12794086   PMID:12808092   PMID:12815042   PMID:12874272   PMID:12904571   PMID:12917407   PMID:14531804   PMID:14555988  
PMID:14612425   PMID:14612439   PMID:14691252   PMID:14699069   PMID:14701756   PMID:14702039   PMID:14727154   PMID:14728725   PMID:14729983   PMID:15009097   PMID:15066998   PMID:15084259  
PMID:15107821   PMID:15144564   PMID:15150278   PMID:15166010   PMID:15218362   PMID:15221015   PMID:15231748   PMID:15231848   PMID:15241418   PMID:15280432   PMID:15308665   PMID:15326485  
PMID:15350224   PMID:15350225   PMID:15356634   PMID:15359284   PMID:15467747   PMID:15489334   PMID:15489854   PMID:15494412   PMID:15496141   PMID:15520018   PMID:15599395   PMID:15613484  
PMID:15623506   PMID:15647271   PMID:15665291   PMID:15735739   PMID:15750622   PMID:15761148   PMID:15761153   PMID:15799969   PMID:15811425   PMID:15817471   PMID:15849193   PMID:15922743  
PMID:16007227   PMID:16027725   PMID:16055724   PMID:16087734   PMID:16109717   PMID:16146757   PMID:16179804   PMID:16200078   PMID:16224064   PMID:16253118   PMID:16260601   PMID:16322555  
PMID:16344560   PMID:16362038   PMID:16403803   PMID:16437159   PMID:16478646   PMID:16556868   PMID:16619037   PMID:16636667   PMID:16645187   PMID:16751101   PMID:16751102   PMID:16806069  
PMID:16806156   PMID:16916642   PMID:16924420   PMID:16959829   PMID:17035229   PMID:17053951   PMID:17081983   PMID:17099224   PMID:17142261   PMID:17217620   PMID:17239842   PMID:17283070  
PMID:17292623   PMID:17292826   PMID:17295676   PMID:17341133   PMID:17365852   PMID:17427197   PMID:17438144   PMID:17591695   PMID:17591701   PMID:17711623   PMID:17729405   PMID:17875924  
PMID:17878231   PMID:17927854   PMID:18003620   PMID:18082619   PMID:18166170   PMID:18210139   PMID:18215124   PMID:18223258   PMID:18263591   PMID:18268325   PMID:18334480   PMID:18393632  
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PMID:19139564   PMID:19201832   PMID:19211612   PMID:19274049   PMID:19289081   PMID:19322201   PMID:19345189   PMID:19351817   PMID:19366699   PMID:19397700   PMID:19419955   PMID:19420158  
PMID:19421146   PMID:19429239   PMID:19453261   PMID:19558215   PMID:19580641   PMID:19620243   PMID:19688145   PMID:19751112   PMID:19819941   PMID:19822523   PMID:19827952   PMID:19914168  
PMID:19917253   PMID:19920136   PMID:19937272   PMID:19951945   PMID:20010874   PMID:20011542   PMID:20061380   PMID:20070253   PMID:20086175   PMID:20129061   PMID:20195357   PMID:20207742  
PMID:20211142   PMID:20301299   PMID:20301312   PMID:20346360   PMID:20347004   PMID:20350217   PMID:20403362   PMID:20453000   PMID:20460105   PMID:20462450   PMID:20571128   PMID:20603019  
PMID:20604712   PMID:20607798   PMID:20634891   PMID:20717921   PMID:20734064   PMID:20852387   PMID:20930144   PMID:20937913   PMID:20945383   PMID:20954112   PMID:20959473   PMID:20977504  
PMID:21036908   PMID:21052639   PMID:21068203   PMID:21081648   PMID:21095583   PMID:21106222   PMID:21110833   PMID:21145499   PMID:21149449   PMID:21170261   PMID:21258410   PMID:21297662  
PMID:21377836   PMID:21406405   PMID:21454478   PMID:21490324   PMID:21532621   PMID:21599657   PMID:21613609   PMID:21624123   PMID:21646355   PMID:21732483   PMID:21741598   PMID:21749466  
PMID:21828274   PMID:21873635   PMID:21883378   PMID:21947082   PMID:21960005   PMID:21988832   PMID:21990365   PMID:22045334   PMID:22196728   PMID:22227581   PMID:22228025   PMID:22278155  
PMID:22301403   PMID:22344298   PMID:22385658   PMID:22426647   PMID:22442258   PMID:22461896   PMID:22563507   PMID:22617150   PMID:22705205   PMID:22710166   PMID:22868198   PMID:22898364  
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PMID:23530056   PMID:23591895   PMID:23649632   PMID:23666711   PMID:23738652   PMID:23747729   PMID:23779087   PMID:23781096   PMID:23788427   PMID:23804438   PMID:23814118   PMID:23873106  
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PMID:26045877   PMID:26057631   PMID:26150340   PMID:26186194   PMID:26247899   PMID:26261569   PMID:26261683   PMID:26265084   PMID:26365350   PMID:26383977   PMID:26384307   PMID:26432290  
PMID:26445225   PMID:26455393   PMID:26496610   PMID:26555259   PMID:26608417   PMID:26647993   PMID:26674378   PMID:26680585   PMID:26708185   PMID:26733179   PMID:26782955   PMID:26802603  
PMID:26873485   PMID:26905010   PMID:26974954   PMID:26977879   PMID:26983401   PMID:26992562   PMID:27014911   PMID:27035110   PMID:27087048   PMID:27089389   PMID:27107692   PMID:27155083  
PMID:27184078   PMID:27292796   PMID:27375111   PMID:27383203   PMID:27525969   PMID:27543459   PMID:27566588   PMID:27604640   PMID:27659524   PMID:27684187   PMID:27703004   PMID:27721022  
PMID:27829223   PMID:27833918   PMID:27845895   PMID:27855376   PMID:27906099   PMID:27959430   PMID:27988204   PMID:28064277   PMID:28108300   PMID:28123053   PMID:28161325   PMID:28205554  
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PMID:28557134   PMID:28649002   PMID:28650473   PMID:28675297   PMID:28778674   PMID:28805484   PMID:28864007   PMID:28867761   PMID:28873461   PMID:28881580   PMID:28943409   PMID:29039572  
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PMID:31399586   PMID:31441592   PMID:31469179   PMID:31582430   PMID:31591477   PMID:31603255   PMID:31676288   PMID:31695131   PMID:31727370   PMID:31732152   PMID:31746388   PMID:31773690  
PMID:31847284   PMID:31932471   PMID:31953203   PMID:32071084   PMID:32102517   PMID:32127004   PMID:32226309   PMID:32281291   PMID:32296183   PMID:32323728   PMID:32345785   PMID:32371398  
PMID:32402252   PMID:32507921   PMID:32513696   PMID:32627026   PMID:32697292   PMID:32705438   PMID:32709857   PMID:32733385   PMID:32746934   PMID:32802182   PMID:32868636   PMID:32878540  
PMID:32928102   PMID:33060197   PMID:33073700   PMID:33125098   PMID:33202380   PMID:33236530   PMID:33245228   PMID:33323411   PMID:33415691   PMID:33499275   PMID:33508890   PMID:33512728  
PMID:33545068   PMID:33599951   PMID:33649832   PMID:33686420   PMID:33705863   PMID:33753495   PMID:33769459   PMID:33928727   PMID:33961781   PMID:34184075   PMID:34315543   PMID:34323647  
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PMID:34969359   PMID:34986386   PMID:35048477   PMID:35131256   PMID:35256949   PMID:35266323   PMID:35302162   PMID:35359452   PMID:35379779   PMID:35484112   PMID:35509688   PMID:35545535  
PMID:35650563   PMID:35696571   PMID:35721120   PMID:35811497   PMID:35831314   PMID:35905654   PMID:35914814   PMID:36114006   PMID:36213818   PMID:36215168   PMID:36226468   PMID:36335471  
PMID:36345938   PMID:36377587   PMID:36524216   PMID:36631456   PMID:36659830   PMID:36724073   PMID:36889311   PMID:36976175   PMID:37079240   PMID:37106379   PMID:37378449   PMID:37480123  
PMID:37559090   PMID:37739089   PMID:37755664   PMID:37762005   PMID:37772583   PMID:37904135   PMID:38383842   PMID:38411267   PMID:38495810   PMID:38789630   PMID:39037563   PMID:39105875  
PMID:39168432   PMID:39259551  


Genomics

Comparative Map Data
SMAD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381847,808,957 - 47,930,872 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1847,808,957 - 47,931,146 (-)EnsemblGRCh38hg38GRCh38
GRCh371845,335,328 - 45,457,243 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361843,613,464 - 43,711,510 (-)NCBINCBI36Build 36hg18NCBI36
Build 341843,618,434 - 43,710,924NCBI
Celera1842,208,816 - 42,306,655 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1842,208,822 - 42,306,925 (-)NCBIHuRef
CHM1_11845,354,416 - 45,452,506 (-)NCBICHM1_1
T2T-CHM13v2.01847,999,960 - 48,121,861 (-)NCBIT2T-CHM13v2.0
Smad2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391876,369,898 - 76,444,819 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1876,374,651 - 76,444,034 (+)EnsemblGRCm39 Ensembl
GRCm381876,241,090 - 76,311,748 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1876,241,580 - 76,310,963 (+)EnsemblGRCm38mm10GRCm38
MGSCv371876,401,579 - 76,465,385 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361876,367,290 - 76,431,096 (+)NCBIMGSCv36mm8
Celera1877,499,761 - 77,546,271 (+)NCBICelera
Cytogenetic Map18E3NCBI
cM Map1851.42NCBI
Smad2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81872,124,792 - 72,193,345 (+)NCBIGRCr8
mRatBN7.21869,849,884 - 69,918,926 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1869,850,377 - 69,912,323 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1871,959,978 - 72,021,908 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01872,629,252 - 72,691,176 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01870,485,797 - 70,547,727 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01872,550,107 - 72,612,078 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1872,550,219 - 72,612,078 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01871,672,879 - 71,735,128 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41873,180,520 - 73,241,707 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11873,253,792 - 73,314,980 (+)NCBI
Celera1868,381,756 - 68,443,610 (+)NCBICelera
Cytogenetic Map18q12.3NCBI
Smad2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540233,136,778 - 33,216,844 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540233,131,760 - 33,217,144 (-)NCBIChiLan1.0ChiLan1.0
SMAD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21765,367,623 - 65,457,402 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11851,053,093 - 51,150,005 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01841,213,001 - 41,309,902 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11844,572,213 - 44,669,008 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1844,580,905 - 44,668,530 (-)Ensemblpanpan1.1panPan2
SMAD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1743,696,883 - 43,778,063 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl743,700,445 - 43,769,983 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha743,181,631 - 43,262,778 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0743,649,238 - 43,731,066 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl743,649,269 - 43,723,505 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1743,350,952 - 43,432,066 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0743,405,083 - 43,486,241 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0743,688,637 - 43,769,813 (+)NCBIUU_Cfam_GSD_1.0
Smad2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494439,484,164 - 39,562,655 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649714,723,199 - 14,801,697 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649714,723,199 - 14,812,160 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMAD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl197,415,716 - 97,511,357 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1197,415,360 - 97,511,388 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21106,898,131 - 106,991,500 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SMAD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11833,017,138 - 33,105,320 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1833,017,492 - 33,104,606 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660507,285,525 - 7,381,371 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smad2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477811,384,769 - 11,501,078 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477811,380,656 - 11,460,566 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SMAD2
298 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005901.6(SMAD2):c.995T>C (p.Ile332Thr) single nucleotide variant not provided [RCV000523517] Chr18:47848477 [GRCh38]
Chr18:45374848 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.784+1G>A single nucleotide variant Congenital heart defects, multiple types, 8, with or without heterotaxy [RCV001789751] Chr18:47851273 [GRCh38]
Chr18:45377644 [GRCh37]
Chr18:18q21.1		 pathogenic|uncertain significance
SMAD2, TRP244CYS variation CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY [RCV001789752] Chr18:18q21 pathogenic|uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:40718750-48354407)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053833]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053833]|See cases [RCV000053833] Chr18:40718750..48354407 [GRCh38]
Chr18:38298714..45880778 [GRCh37]
Chr18:36552712..44134776 [NCBI36]
Chr18:18q12.3-21.1		 pathogenic
NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys) single nucleotide variant Congenital heart defects, multiple types, 8, with or without heterotaxy [RCV002292376]|not provided [RCV000122601] Chr18:47848650 [GRCh38]
Chr18:45375021 [GRCh37]
Chr18:18q21.1		 pathogenic|not provided
NM_005901.6(SMAD2):c.997+1G>A single nucleotide variant not provided [RCV000122602] Chr18:47848474 [GRCh38]
Chr18:45374845 [GRCh37]
Chr18:18q21.1		 not provided
NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser) single nucleotide variant Congenital heart defects, multiple types, 8, with or without heterotaxy [RCV001789764]|Inborn genetic diseases [RCV000190697] Chr18:47848537 [GRCh38]
Chr18:45374908 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.730+11T>A single nucleotide variant not provided [RCV001545407]|not specified [RCV003331181] Chr18:47865048 [GRCh38]
Chr18:45391419 [GRCh37]
Chr18:18q21.1		 benign|likely benign
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1 copy number loss See cases [RCV000142696] Chr18:41722823..49043887 [GRCh38]
Chr18:39302787..46570257 [GRCh37]
Chr18:37556785..44824255 [NCBI36]
Chr18:18q12.3-21.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
Single allele single nucleotide variant Anomalous pulmonary venous return [RCV000754893] Chr18:45422938 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_005901.6(SMAD2):c.544C>T (p.Arg182Ter) single nucleotide variant not provided [RCV001547464] Chr18:47868434 [GRCh38]
Chr18:45394805 [GRCh37]
Chr18:18q21.1		 pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter) single nucleotide variant Congenital heart defects, multiple types, 8, with or without heterotaxy [RCV001789776]|not provided [RCV000480930] Chr18:47869288 [GRCh38]
Chr18:45395659 [GRCh37]
Chr18:18q21.1		 pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
NM_005901.6(SMAD2):c.173T>A (p.Leu58Ter) single nucleotide variant not provided [RCV000494088] Chr18:47896584 [GRCh38]
Chr18:45422955 [GRCh37]
Chr18:18q21.1		 pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 copy number gain See cases [RCV000511124] Chr18:24835114..46917217 [GRCh37]
Chr18:18q11.2-21.1		 likely benign
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
NM_005901.6(SMAD2):c.53G>A (p.Trp18Ter) single nucleotide variant not provided [RCV000578545] Chr18:47896704 [GRCh38]
Chr18:45423075 [GRCh37]
Chr18:18q21.1		 likely pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005901.6(SMAD2):c.1137C>T (p.Gly379=) single nucleotide variant Inborn genetic diseases [RCV003278220] Chr18:47845483 [GRCh38]
Chr18:45371854 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.6G>A (p.Ser2=) single nucleotide variant Inborn genetic diseases [RCV003306777]|not provided [RCV003777236] Chr18:47896751 [GRCh38]
Chr18:45423122 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.531A>G (p.Pro177=) single nucleotide variant Inborn genetic diseases [RCV003306778] Chr18:47868447 [GRCh38]
Chr18:45394818 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.773dup (p.Asn258fs) duplication Inborn genetic diseases [RCV000624525] Chr18:47851284..47851285 [GRCh38]
Chr18:45377655..45377656 [GRCh37]
Chr18:18q21.1		 pathogenic|uncertain significance
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 copy number gain not provided [RCV000684057] Chr18:35866313..55082983 [GRCh37]
Chr18:18q12.2-21.31		 pathogenic
NM_005901.6(SMAD2):c.587A>G (p.Tyr196Cys) single nucleotide variant not provided [RCV001544637] Chr18:47868391 [GRCh38]
Chr18:45394762 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q21.1(chr18:45285683-45404603)x3 copy number gain not provided [RCV000739816] Chr18:45285683..45404603 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
NM_005901.6(SMAD2):c.*93A>G single nucleotide variant not provided [RCV001533879] Chr18:47841734 [GRCh38]
Chr18:45368105 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.521-283C>G single nucleotide variant not provided [RCV001610145] Chr18:47868740 [GRCh38]
Chr18:45395111 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.162A>G (p.Lys54=) single nucleotide variant Inborn genetic diseases [RCV002400069]|not provided [RCV000939015] Chr18:47896595 [GRCh38]
Chr18:45422966 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.520+159T>A single nucleotide variant not provided [RCV001648739] Chr18:47869084 [GRCh38]
Chr18:45395455 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.521-91A>G single nucleotide variant not provided [RCV001648859] Chr18:47868548 [GRCh38]
Chr18:45394919 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.358C>T (p.Arg120Ter) single nucleotide variant not provided [RCV003239062] Chr18:47869405 [GRCh38]
Chr18:45395776 [GRCh37]
Chr18:18q21.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.1(chr18:45285683-45404934)x3 copy number gain not provided [RCV000752336] Chr18:45285683..45404934 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18q21.1(chr18:45285683-45406749)x3 copy number gain not provided [RCV000752337] Chr18:45285683..45406749 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18q21.1(chr18:45319554-45411505)x3 copy number gain not provided [RCV000752338] Chr18:45319554..45411505 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18q21.1(chr18:45360991-45404934)x3 copy number gain not provided [RCV000752339] Chr18:45360991..45404934 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.327-39del deletion not provided [RCV001679186] Chr18:47869475 [GRCh38]
Chr18:45395846 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.828G>A (p.Ser276=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003485664]|Loeys-Dietz syndrome 6 [RCV002503062]|not provided [RCV000969700]|not specified [RCV003323770] Chr18:47848644 [GRCh38]
Chr18:45375015 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.549_550insCC (p.Thr184fs) insertion not provided [RCV001009261] Chr18:47868428..47868429 [GRCh38]
Chr18:45394799..45394800 [GRCh37]
Chr18:18q21.1		 pathogenic
GRCh37/hg19 18q21.1(chr18:44619805-46854791)x3 copy number gain not provided [RCV000847739] Chr18:44619805..46854791 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1376C>T (p.Pro459Leu) single nucleotide variant not provided [RCV003313638] Chr18:47841855 [GRCh38]
Chr18:45368226 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.520+5G>A single nucleotide variant not provided [RCV001576702] Chr18:47869238 [GRCh38]
Chr18:45395609 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.785-277A>G single nucleotide variant not provided [RCV001569508] Chr18:47848964 [GRCh38]
Chr18:45375335 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.789A>G (p.Leu263=) single nucleotide variant Inborn genetic diseases [RCV002421207]|not provided [RCV001570842] Chr18:47848683 [GRCh38]
Chr18:45375054 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.-53-147A>G single nucleotide variant not provided [RCV001677331] Chr18:47896956 [GRCh38]
Chr18:45423327 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.655+93T>A single nucleotide variant not provided [RCV001695250] Chr18:47868230 [GRCh38]
Chr18:45394601 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1281-136G>A single nucleotide variant not provided [RCV001597835] Chr18:47842086 [GRCh38]
Chr18:45368457 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1281-317G>A single nucleotide variant not provided [RCV001561166] Chr18:47842267 [GRCh38]
Chr18:45368638 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.730+70A>G single nucleotide variant not provided [RCV001561433] Chr18:47864989 [GRCh38]
Chr18:45391360 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1281-248A>T single nucleotide variant not provided [RCV001586337] Chr18:47842198 [GRCh38]
Chr18:45368569 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1280+25A>G single nucleotide variant not provided [RCV001691419] Chr18:47845315 [GRCh38]
Chr18:45371686 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.730+184T>A single nucleotide variant not provided [RCV001565443] Chr18:47864875 [GRCh38]
Chr18:45391246 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.747A>G (p.Leu249=) single nucleotide variant Inborn genetic diseases [RCV002388591]|not provided [RCV001557918] Chr18:47851311 [GRCh38]
Chr18:45377682 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.27G>A (p.Pro9=) single nucleotide variant Inborn genetic diseases [RCV002440798]|not provided [RCV001559356]|not specified [RCV003230682] Chr18:47896730 [GRCh38]
Chr18:45423101 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.579G>A (p.Leu193=) single nucleotide variant Inborn genetic diseases [RCV002359176]|SMAD2-related disorder [RCV004551906]|not provided [RCV001559372] Chr18:47868399 [GRCh38]
Chr18:45394770 [GRCh37]
Chr18:18q21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005901.6(SMAD2):c.730+74A>G single nucleotide variant not provided [RCV001585204] Chr18:47864985 [GRCh38]
Chr18:45391356 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1281-11C>A single nucleotide variant not provided [RCV001767067] Chr18:47841961 [GRCh38]
Chr18:45368332 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.327-69C>T single nucleotide variant not provided [RCV001577244] Chr18:47869505 [GRCh38]
Chr18:45395876 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.189del (p.Ala64fs) deletion not provided [RCV001567249] Chr18:47896568 [GRCh38]
Chr18:45422939 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.997+5G>A single nucleotide variant not provided [RCV001568199] Chr18:47848470 [GRCh38]
Chr18:45374841 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1281-318C>T single nucleotide variant not provided [RCV001595337] Chr18:47842268 [GRCh38]
Chr18:45368639 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.997+18T>G single nucleotide variant not provided [RCV001563563]|not specified [RCV003323904] Chr18:47848457 [GRCh38]
Chr18:45374828 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.326+215T>G single nucleotide variant not provided [RCV001553287] Chr18:47870260 [GRCh38]
Chr18:45396631 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.785-94G>A single nucleotide variant not provided [RCV001575906] Chr18:47848781 [GRCh38]
Chr18:45375152 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.997+88T>G single nucleotide variant not provided [RCV001553449] Chr18:47848387 [GRCh38]
Chr18:45374758 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.748_754del (p.Ser250fs) deletion Loeys-Dietz syndrome 6 [RCV002471528] Chr18:47851304..47851310 [GRCh38]
Chr18:45377675..45377681 [GRCh37]
Chr18:18q21.1		 pathogenic
GRCh37/hg19 18q21.1(chr18:44867535-45445398)x3 copy number gain not provided [RCV001006978] Chr18:44867535..45445398 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2		 pathogenic
NM_005901.6(SMAD2):c.521-16del deletion not provided [RCV001591546]|not specified [RCV003323908] Chr18:47868473 [GRCh38]
Chr18:45394844 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.448G>A (p.Glu150Lys) single nucleotide variant not provided [RCV001652976] Chr18:47869315 [GRCh38]
Chr18:45395686 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.730+107A>G single nucleotide variant not provided [RCV001594052] Chr18:47864952 [GRCh38]
Chr18:45391323 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.656-235A>G single nucleotide variant not provided [RCV001637904] Chr18:47865368 [GRCh38]
Chr18:45391739 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1280+202G>A single nucleotide variant not provided [RCV001594580] Chr18:47845138 [GRCh38]
Chr18:45371509 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.730+3dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV003485726]|not provided [RCV001707463]|not specified [RCV003323918] Chr18:47865048..47865049 [GRCh38]
Chr18:45391419..45391420 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.327-40_327-39del deletion not provided [RCV001665691] Chr18:47869475..47869476 [GRCh38]
Chr18:45395846..45395847 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.785-9C>A single nucleotide variant SMAD2-related disorder [RCV004551919]|not provided [RCV001568053] Chr18:47848696 [GRCh38]
Chr18:45375067 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.327-56dup duplication not provided [RCV001649767] Chr18:47869474..47869475 [GRCh38]
Chr18:45395845..45395846 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.917C>T (p.Ser306Leu) single nucleotide variant SMAD2-congenital heart disease and multiple congenital anomaly disorder [RCV001253758] Chr18:47848555 [GRCh38]
Chr18:45374926 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.291T>A (p.Asp97Glu) single nucleotide variant Inborn genetic diseases [RCV004683965] Chr18:47870510 [GRCh38]
Chr18:45396881 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.998G>T (p.Gly333Val) single nucleotide variant Inborn genetic diseases [RCV004683966] Chr18:47845800 [GRCh38]
Chr18:45372171 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.992A>G (p.His331Arg) single nucleotide variant Inborn genetic diseases [RCV004683967] Chr18:47848480 [GRCh38]
Chr18:45374851 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1236C>T (p.Cys412=) single nucleotide variant Inborn genetic diseases [RCV004683963] Chr18:47845384 [GRCh38]
Chr18:45371755 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.785-87T>A single nucleotide variant not provided [RCV001536153] Chr18:47848774 [GRCh38]
Chr18:45375145 [GRCh37]
Chr18:18q21.1		 likely benign
NC_000018.9:g.(?_42281312)_(45423127_?)del deletion not provided [RCV004579861] Chr18:42281312..45423127 [GRCh37]
Chr18:18q12.3-21.1		 pathogenic|uncertain significance
NM_005901.6(SMAD2):c.790C>T (p.Gln264Ter) single nucleotide variant SMAD2-related disorder [RCV001270831] Chr18:47848682 [GRCh38]
Chr18:45375053 [GRCh37]
Chr18:18q21.1		 likely pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
NM_005901.6(SMAD2):c.972G>A (p.Thr324=) single nucleotide variant Inborn genetic diseases [RCV002386441]|SMAD2-related disorder [RCV004550312]|not provided [RCV001538249]|not specified [RCV004699414] Chr18:47848500 [GRCh38]
Chr18:45374871 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.660G>T (p.Thr220=) single nucleotide variant not provided [RCV001581569] Chr18:47865129 [GRCh38]
Chr18:45391500 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.731-184C>G single nucleotide variant not provided [RCV001687245] Chr18:47851511 [GRCh38]
Chr18:45377882 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1281-266C>T single nucleotide variant not provided [RCV001538425] Chr18:47842216 [GRCh38]
Chr18:45368587 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.323C>G (p.Thr108Ser) single nucleotide variant not provided [RCV001761326] Chr18:47870478 [GRCh38]
Chr18:45396849 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.734C>G (p.Ser245Cys) single nucleotide variant not provided [RCV001763053] Chr18:47851324 [GRCh38]
Chr18:45377695 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.757A>G (p.Thr253Ala) single nucleotide variant not provided [RCV001763194] Chr18:47851301 [GRCh38]
Chr18:45377672 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1378T>A (p.Ser460Thr) single nucleotide variant Inborn genetic diseases [RCV003298987]|not provided [RCV001773160] Chr18:47841853 [GRCh38]
Chr18:45368224 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.237-12A>G single nucleotide variant Congenital heart defects, multiple types, 8, with or without heterotaxy [RCV001789799] Chr18:47870576 [GRCh38]
Chr18:45396947 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.612dup (p.Asn205Ter) duplication Loeys-Dietz syndrome 6 [RCV001789800]|SMAD2-related disorder [RCV004552023] Chr18:47868365..47868366 [GRCh38]
Chr18:45394736..45394737 [GRCh37]
Chr18:18q21.1		 pathogenic|likely pathogenic
NM_005901.6(SMAD2):c.1385G>A (p.Arg462His) single nucleotide variant not provided [RCV001772887] Chr18:47841846 [GRCh38]
Chr18:45368217 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.594C>T (p.His198=) single nucleotide variant not provided [RCV001754254] Chr18:47868384 [GRCh38]
Chr18:45394755 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.908C>T (p.Thr303Ile) single nucleotide variant not provided [RCV001769393] Chr18:47848564 [GRCh38]
Chr18:45374935 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.727A>G (p.Thr243Ala) single nucleotide variant not provided [RCV001765559] Chr18:47865062 [GRCh38]
Chr18:45391433 [GRCh37]
Chr18:18q21.1		 uncertain significance
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005901.6(SMAD2):c.1346T>C (p.Leu449Ser) single nucleotide variant Loeys-Dietz syndrome 6 [RCV001789795] Chr18:47841885 [GRCh38]
Chr18:45368256 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.1082A>C (p.Asn361Thr) single nucleotide variant Loeys-Dietz syndrome 6 [RCV001789801] Chr18:47845716 [GRCh38]
Chr18:45372087 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.1369G>A (p.Gly457Arg) single nucleotide variant Loeys-Dietz syndrome 6 [RCV001789796]|not provided [RCV002544317] Chr18:47841862 [GRCh38]
Chr18:45368233 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg) single nucleotide variant Loeys-Dietz syndrome 6 [RCV001789797]|not provided [RCV003560848] Chr18:47845457 [GRCh38]
Chr18:45371828 [GRCh37]
Chr18:18q21.1		 pathogenic|uncertain significance
NM_005901.6(SMAD2):c.833C>T (p.Ala278Val) single nucleotide variant Loeys-Dietz syndrome 6 [RCV001789798]|not provided [RCV003136156] Chr18:47848639 [GRCh38]
Chr18:45375010 [GRCh37]
Chr18:18q21.1		 pathogenic|uncertain significance
NM_005901.6(SMAD2):c.941G>A (p.Gly314Asp) single nucleotide variant not provided [RCV001758128] Chr18:47848531 [GRCh38]
Chr18:45374902 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.489C>T (p.Asn163=) single nucleotide variant not provided [RCV001779658] Chr18:47869274 [GRCh38]
Chr18:45395645 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1360_1364del (p.Thr454fs) deletion not provided [RCV001970570] Chr18:47841867..47841871 [GRCh38]
Chr18:45368238..45368242 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.268C>T (p.Pro90Ser) single nucleotide variant not provided [RCV001969323] Chr18:47870533 [GRCh38]
Chr18:45396904 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.730+5A>G single nucleotide variant not provided [RCV001874633] Chr18:47865054 [GRCh38]
Chr18:45391425 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1220A>C (p.Gln407Pro) single nucleotide variant not provided [RCV001894077] Chr18:47845400 [GRCh38]
Chr18:45371771 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005901.6(SMAD2):c.389G>A (p.Arg130Gln) single nucleotide variant not provided [RCV002040989] Chr18:47869374 [GRCh38]
Chr18:45395745 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.985A>G (p.Arg329Gly) single nucleotide variant not provided [RCV001871299] Chr18:47848487 [GRCh38]
Chr18:45374858 [GRCh37]
Chr18:18q21.1		 pathogenic|uncertain significance
NM_005901.6(SMAD2):c.556A>T (p.Ile186Phe) single nucleotide variant not provided [RCV001894490] Chr18:47868422 [GRCh38]
Chr18:45394793 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.242G>T (p.Cys81Phe) single nucleotide variant Inborn genetic diseases [RCV002458902]|not provided [RCV001968695]|not specified [RCV003323964] Chr18:47870559 [GRCh38]
Chr18:45396930 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.784+6T>G single nucleotide variant not provided [RCV001968741] Chr18:47851268 [GRCh38]
Chr18:45377639 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.520+4G>A single nucleotide variant not provided [RCV001984850] Chr18:47869239 [GRCh38]
Chr18:45395610 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.363A>G (p.Lys121=) single nucleotide variant not provided [RCV001927502] Chr18:47869400 [GRCh38]
Chr18:45395771 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.634C>G (p.Pro212Ala) single nucleotide variant not provided [RCV001839127] Chr18:47868344 [GRCh38]
Chr18:45394715 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1387del (p.Cys463fs) deletion not provided [RCV002032301] Chr18:47841844 [GRCh38]
Chr18:45368215 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1384C>T (p.Arg462Cys) single nucleotide variant Loeys-Dietz syndrome 6 [RCV002267644]|not provided [RCV002034173] Chr18:47841847 [GRCh38]
Chr18:45368218 [GRCh37]
Chr18:18q21.1		 uncertain significance
NC_000018.9:g.(?_42281312)_(45423127_?)dup duplication Microcephaly, epilepsy, and diabetes syndrome [RCV001923035]|Vici syndrome [RCV001923036] Chr18:42281312..45423127 [GRCh37]
Chr18:18q12.3-21.1		 uncertain significance
NM_005901.6(SMAD2):c.55A>G (p.Lys19Glu) single nucleotide variant not provided [RCV002029002] Chr18:47896702 [GRCh38]
Chr18:45423073 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.971C>T (p.Thr324Met) single nucleotide variant Inborn genetic diseases [RCV002386673]|not provided [RCV001882065] Chr18:47848501 [GRCh38]
Chr18:45374872 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.23C>T (p.Thr8Met) single nucleotide variant not provided [RCV002027186] Chr18:47896734 [GRCh38]
Chr18:45423105 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1348G>A (p.Asp450Asn) single nucleotide variant not provided [RCV001918775] Chr18:47841883 [GRCh38]
Chr18:45368254 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.236+4A>G single nucleotide variant not provided [RCV001995581] Chr18:47896517 [GRCh38]
Chr18:45422888 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.271A>G (p.Asn91Asp) single nucleotide variant Inborn genetic diseases [RCV004041489]|not provided [RCV001898342] Chr18:47870530 [GRCh38]
Chr18:45396901 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.730+10del deletion SMAD2-related disorder [RCV004553724]|not provided [RCV002107584] Chr18:47865049 [GRCh38]
Chr18:45391420 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.1280+19G>A single nucleotide variant not provided [RCV002084946] Chr18:47845321 [GRCh38]
Chr18:45371692 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1176T>C (p.Ala392=) single nucleotide variant Inborn genetic diseases [RCV002331754]|not provided [RCV002124809] Chr18:47845444 [GRCh38]
Chr18:45371815 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.236+10G>T single nucleotide variant not provided [RCV002186127] Chr18:47896511 [GRCh38]
Chr18:45422882 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.705A>G (p.Gln235=) single nucleotide variant Inborn genetic diseases [RCV002363647]|SMAD2-related disorder [RCV004553789]|not provided [RCV002110135] Chr18:47865084 [GRCh38]
Chr18:45391455 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.327-15C>T single nucleotide variant not provided [RCV002168097] Chr18:47869451 [GRCh38]
Chr18:45395822 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.908C>G (p.Thr303Arg) single nucleotide variant Loeys-Dietz syndrome 6 [RCV002249173] Chr18:47848564 [GRCh38]
Chr18:45374935 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_005901.6(SMAD2):c.785-17A>C single nucleotide variant not provided [RCV002110582] Chr18:47848704 [GRCh38]
Chr18:45375075 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1136-13T>A single nucleotide variant not provided [RCV002126286] Chr18:47845497 [GRCh38]
Chr18:45371868 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1217A>G (p.Tyr406Cys) single nucleotide variant not provided [RCV002226124] Chr18:47845403 [GRCh38]
Chr18:45371774 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.24G>A (p.Thr8=) single nucleotide variant Inborn genetic diseases [RCV002427561]|not provided [RCV002192381] Chr18:47896733 [GRCh38]
Chr18:45423104 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.785-18dup duplication not provided [RCV002125383]|not specified [RCV003323992] Chr18:47848704..47848705 [GRCh38]
Chr18:45375075..45375076 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1245A>G (p.Arg415=) single nucleotide variant Inborn genetic diseases [RCV002391238]|not provided [RCV002096711] Chr18:47845375 [GRCh38]
Chr18:45371746 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1050A>G (p.Leu350=) single nucleotide variant not provided [RCV002170960] Chr18:47845748 [GRCh38]
Chr18:45372119 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.730+10A>G single nucleotide variant not provided [RCV002079128] Chr18:47865049 [GRCh38]
Chr18:45391420 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.544C>A (p.Arg182=) single nucleotide variant Inborn genetic diseases [RCV002346504]|not provided [RCV002153285] Chr18:47868434 [GRCh38]
Chr18:45394805 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.903C>T (p.Gly301=) single nucleotide variant not provided [RCV002207185] Chr18:47848569 [GRCh38]
Chr18:45374940 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.43C>T (p.Leu15=) single nucleotide variant not provided [RCV002189214] Chr18:47896714 [GRCh38]
Chr18:45423085 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.785-10dup duplication not provided [RCV002151745] Chr18:47848696..47848697 [GRCh38]
Chr18:45375067..45375068 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1280+16T>C single nucleotide variant not provided [RCV002134314]|not specified [RCV003323998] Chr18:47845324 [GRCh38]
Chr18:45371695 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1281-14A>G single nucleotide variant not provided [RCV002129669] Chr18:47841964 [GRCh38]
Chr18:45368335 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.784+7T>A single nucleotide variant not provided [RCV002114106]|not specified [RCV003331311] Chr18:47851267 [GRCh38]
Chr18:45377638 [GRCh37]
Chr18:18q21.1		 likely benign|uncertain significance
NM_005901.6(SMAD2):c.1136-10T>C single nucleotide variant not provided [RCV002173767] Chr18:47845494 [GRCh38]
Chr18:45371865 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.785-8T>G single nucleotide variant SMAD2-related disorder [RCV004553797]|not provided [RCV002116512] Chr18:47848695 [GRCh38]
Chr18:45375066 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.327-20T>C single nucleotide variant not provided [RCV002151337] Chr18:47869456 [GRCh38]
Chr18:45395827 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.655+14C>T single nucleotide variant not provided [RCV002179846] Chr18:47868309 [GRCh38]
Chr18:45394680 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.585C>T (p.Asp195=) single nucleotide variant not provided [RCV002155623] Chr18:47868393 [GRCh38]
Chr18:45394764 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.997+19G>A single nucleotide variant not provided [RCV002143063] Chr18:47848456 [GRCh38]
Chr18:45374827 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.785-8T>C single nucleotide variant not provided [RCV002163557] Chr18:47848695 [GRCh38]
Chr18:45375066 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.237-6G>A single nucleotide variant not provided [RCV002180556] Chr18:47870570 [GRCh38]
Chr18:45396941 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.327-11C>G single nucleotide variant not provided [RCV002100201] Chr18:47869447 [GRCh38]
Chr18:45395818 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.997+11T>C single nucleotide variant not provided [RCV002163281]|not specified [RCV004700671] Chr18:47848464 [GRCh38]
Chr18:45374835 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.6G>T (p.Ser2=) single nucleotide variant not provided [RCV002082400] Chr18:47896751 [GRCh38]
Chr18:45423122 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.997+13T>C single nucleotide variant not provided [RCV002121438] Chr18:47848462 [GRCh38]
Chr18:45374833 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.520+16G>A single nucleotide variant not provided [RCV002197809] Chr18:47869227 [GRCh38]
Chr18:45395598 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.998-18A>G single nucleotide variant not provided [RCV002139123]|not specified [RCV003331322] Chr18:47845818 [GRCh38]
Chr18:45372189 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1032A>G (p.Glu344=) single nucleotide variant Inborn genetic diseases [RCV002391267]|not provided [RCV002141851] Chr18:47845766 [GRCh38]
Chr18:45372137 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.834A>G (p.Ala278=) single nucleotide variant not provided [RCV002163113] Chr18:47848638 [GRCh38]
Chr18:45375009 [GRCh37]
Chr18:18q21.1		 likely benign
NC_000018.9:g.(?_45368198)_(45423127_?)del deletion not provided [RCV003116450] Chr18:45368198..45423127 [GRCh37]
Chr18:18q21.1		 uncertain significance
NC_000018.9:g.(?_45368198)_(45375078_?)del deletion not provided [RCV003116451] Chr18:45368198..45375078 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1110T>C (p.Pro370=) single nucleotide variant Inborn genetic diseases [RCV004244648]|not provided [RCV003118595] Chr18:47845688 [GRCh38]
Chr18:45372059 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.356A>G (p.His119Arg) single nucleotide variant Inborn genetic diseases [RCV004683964] Chr18:47869407 [GRCh38]
Chr18:45395778 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1297A>G (p.Ser433Gly) single nucleotide variant not provided [RCV003235842] Chr18:47841934 [GRCh38]
Chr18:45368305 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1131A>C (p.Pro377=) single nucleotide variant Inborn genetic diseases [RCV003278219]|not provided [RCV003699064] Chr18:47845667 [GRCh38]
Chr18:45372038 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1322A>C (p.His441Pro) single nucleotide variant not provided [RCV002269768] Chr18:47841909 [GRCh38]
Chr18:45368280 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.572C>T (p.Pro191Leu) single nucleotide variant Inborn genetic diseases [RCV003096210]|not provided [RCV002276056] Chr18:47868406 [GRCh38]
Chr18:45394777 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1174G>A (p.Ala392Thr) single nucleotide variant not provided [RCV002282999] Chr18:47845446 [GRCh38]
Chr18:45371817 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.507_508del (p.Arg169fs) microsatellite Loeys-Dietz syndrome 1 [RCV002288454] Chr18:47869255..47869256 [GRCh38]
Chr18:45395626..45395627 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_005901.6(SMAD2):c.1294A>C (p.Thr432Pro) single nucleotide variant not provided [RCV002265188] Chr18:47841937 [GRCh38]
Chr18:45368308 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1329T>C (p.Asn443=) single nucleotide variant Inborn genetic diseases [RCV002385874] Chr18:47841902 [GRCh38]
Chr18:45368273 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.195C>T (p.Ile65=) single nucleotide variant Inborn genetic diseases [RCV002421702] Chr18:47896562 [GRCh38]
Chr18:45422933 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.549C>T (p.His183=) single nucleotide variant Inborn genetic diseases [RCV002351596]|not provided [RCV003730101] Chr18:47868429 [GRCh38]
Chr18:45394800 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.980T>C (p.Met327Thr) single nucleotide variant Inborn genetic diseases [RCV002387252] Chr18:47848492 [GRCh38]
Chr18:45374863 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.26C>A (p.Pro9Gln) single nucleotide variant Inborn genetic diseases [RCV002437385] Chr18:47896731 [GRCh38]
Chr18:45423102 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.70G>A (p.Gly24Arg) single nucleotide variant Inborn genetic diseases [RCV002367358] Chr18:47896687 [GRCh38]
Chr18:45423058 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.636A>G (p.Pro212=) single nucleotide variant Inborn genetic diseases [RCV002369065] Chr18:47868342 [GRCh38]
Chr18:45394713 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.552C>T (p.Thr184=) single nucleotide variant Inborn genetic diseases [RCV002351818]|not provided [RCV003096782] Chr18:47868426 [GRCh38]
Chr18:45394797 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.708G>T (p.Gln236His) single nucleotide variant Inborn genetic diseases [RCV002367278]|not provided [RCV003776350] Chr18:47865081 [GRCh38]
Chr18:45391452 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.168A>G (p.Gly56=) single nucleotide variant Inborn genetic diseases [RCV002414617]|not provided [RCV003774463] Chr18:47896589 [GRCh38]
Chr18:45422960 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.619C>G (p.Pro207Ala) single nucleotide variant not provided [RCV002474191] Chr18:47868359 [GRCh38]
Chr18:45394730 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.341G>A (p.Arg114His) single nucleotide variant not provided [RCV002474020] Chr18:47869422 [GRCh38]
Chr18:45395793 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.492T>C (p.Pro164=) single nucleotide variant Inborn genetic diseases [RCV002342633] Chr18:47869271 [GRCh38]
Chr18:45395642 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.998G>A (p.Gly333Glu) single nucleotide variant Loeys-Dietz syndrome 6 [RCV002467375] Chr18:47845800 [GRCh38]
Chr18:45372171 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.558C>T (p.Ile186=) single nucleotide variant Inborn genetic diseases [RCV002344806] Chr18:47868420 [GRCh38]
Chr18:45394791 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.885C>T (p.Pro295=) single nucleotide variant Inborn genetic diseases [RCV002375947] Chr18:47848587 [GRCh38]
Chr18:45374958 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.648T>C (p.Tyr216=) single nucleotide variant Inborn genetic diseases [RCV002362002]|not provided [RCV003776271] Chr18:47868330 [GRCh38]
Chr18:45394701 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.1059T>G (p.Ser353Arg) single nucleotide variant Loeys-Dietz syndrome 6 [RCV002305874] Chr18:47845739 [GRCh38]
Chr18:45372110 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_005901.6(SMAD2):c.156A>G (p.Leu52=) single nucleotide variant Inborn genetic diseases [RCV002405616]|not provided [RCV003096951] Chr18:47896601 [GRCh38]
Chr18:45422972 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.882G>A (p.Gln294=) single nucleotide variant Inborn genetic diseases [RCV002373771]|not provided [RCV003774132] Chr18:47848590 [GRCh38]
Chr18:45374961 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.759T>C (p.Thr253=) single nucleotide variant Inborn genetic diseases [RCV002394210] Chr18:47851299 [GRCh38]
Chr18:45377670 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.516A>G (p.Thr172=) single nucleotide variant Inborn genetic diseases [RCV002338368]|not provided [RCV003698923] Chr18:47869247 [GRCh38]
Chr18:45395618 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.291T>C (p.Asp97=) single nucleotide variant Inborn genetic diseases [RCV002439952] Chr18:47870510 [GRCh38]
Chr18:45396881 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.660G>A (p.Thr220=) single nucleotide variant Inborn genetic diseases [RCV002364584]|not provided [RCV003776287]|not specified [RCV003324029] Chr18:47865129 [GRCh38]
Chr18:45391500 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1098T>C (p.Tyr366=) single nucleotide variant Inborn genetic diseases [RCV002455381]|not provided [RCV003775252] Chr18:47845700 [GRCh38]
Chr18:45372071 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.391T>C (p.Leu131=) single nucleotide variant Inborn genetic diseases [RCV002357531]|not provided [RCV003102479] Chr18:47869372 [GRCh38]
Chr18:45395743 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1059T>C (p.Ser353=) single nucleotide variant Inborn genetic diseases [RCV002401712]|not provided [RCV003660955] Chr18:47845739 [GRCh38]
Chr18:45372110 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.372A>G (p.Pro124=) single nucleotide variant Inborn genetic diseases [RCV002353046] Chr18:47869391 [GRCh38]
Chr18:45395762 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.275C>T (p.Thr92Met) single nucleotide variant Inborn genetic diseases [RCV002439471] Chr18:47870526 [GRCh38]
Chr18:45396897 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.755C>T (p.Thr252Ile) single nucleotide variant Inborn genetic diseases [RCV002394014] Chr18:47851303 [GRCh38]
Chr18:45377674 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.603A>T (p.Pro201=) single nucleotide variant Inborn genetic diseases [RCV002358201]|not provided [RCV003098111] Chr18:47868375 [GRCh38]
Chr18:45394746 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.861A>C (p.Gly287=) single nucleotide variant Inborn genetic diseases [RCV002448026] Chr18:47848611 [GRCh38]
Chr18:45374982 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1290G>A (p.Thr430=) single nucleotide variant Inborn genetic diseases [RCV002380533] Chr18:47841941 [GRCh38]
Chr18:45368312 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.557T>A (p.Ile186Asn) single nucleotide variant Inborn genetic diseases [RCV002344749] Chr18:47868421 [GRCh38]
Chr18:45394792 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.87C>T (p.Gly29=) single nucleotide variant Inborn genetic diseases [RCV002373707]|SMAD2-related disorder [RCV004548286]|not provided [RCV003100030] Chr18:47896670 [GRCh38]
Chr18:45423041 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.170G>A (p.Arg57Gln) single nucleotide variant Inborn genetic diseases [RCV002398872] Chr18:47896587 [GRCh38]
Chr18:45422958 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1383G>T (p.Val461=) single nucleotide variant Inborn genetic diseases [RCV002381222]|not provided [RCV003660949] Chr18:47841848 [GRCh38]
Chr18:45368219 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.776A>G (p.His259Arg) single nucleotide variant Inborn genetic diseases [RCV002409748] Chr18:47851282 [GRCh38]
Chr18:45377653 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1308C>T (p.Cys436=) single nucleotide variant Inborn genetic diseases [RCV002381004]|not provided [RCV003094949] Chr18:47841923 [GRCh38]
Chr18:45368294 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.273T>C (p.Asn91=) single nucleotide variant Inborn genetic diseases [RCV002439241] Chr18:47870528 [GRCh38]
Chr18:45396899 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.998-19C>G single nucleotide variant not provided [RCV002816463] Chr18:47845819 [GRCh38]
Chr18:45372190 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.600_605dup (p.Pro201_Glu202insAspPro) duplication not provided [RCV002726213] Chr18:47868372..47868373 [GRCh38]
Chr18:45394743..45394744 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1262G>A (p.Gly421Glu) single nucleotide variant not provided [RCV002862956] Chr18:47845358 [GRCh38]
Chr18:45371729 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.233C>A (p.Pro78Gln) single nucleotide variant not provided [RCV002862156] Chr18:47896524 [GRCh38]
Chr18:45422895 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.784+8G>A single nucleotide variant not provided [RCV002908276] Chr18:47851266 [GRCh38]
Chr18:45377637 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.420T>C (p.His140=) single nucleotide variant not provided [RCV002996016] Chr18:47869343 [GRCh38]
Chr18:45395714 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.63A>G (p.Ser21=) single nucleotide variant not provided [RCV002617542] Chr18:47896694 [GRCh38]
Chr18:45423065 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.687T>C (p.Asp229=) single nucleotide variant Inborn genetic diseases [RCV003308219]|not provided [RCV002685590] Chr18:47865102 [GRCh38]
Chr18:45391473 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1297A>C (p.Ser433Arg) single nucleotide variant not provided [RCV002863852] Chr18:47841934 [GRCh38]
Chr18:45368305 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.998-9T>C single nucleotide variant not provided [RCV002690193] Chr18:47845809 [GRCh38]
Chr18:45372180 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.418CAT[1] (p.His141del) microsatellite not provided [RCV002914448] Chr18:47869340..47869342 [GRCh38]
Chr18:45395711..45395713 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1014A>T (p.Leu338Phe) single nucleotide variant not provided [RCV003055432] Chr18:47845784 [GRCh38]
Chr18:45372155 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.967G>A (p.Ala323Thr) single nucleotide variant not provided [RCV002825435] Chr18:47848505 [GRCh38]
Chr18:45374876 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1088A>G (p.Asn363Ser) single nucleotide variant not provided [RCV002914035] Chr18:47845710 [GRCh38]
Chr18:45372081 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1150A>G (p.Ile384Val) single nucleotide variant not provided [RCV003018812] Chr18:47845470 [GRCh38]
Chr18:45371841 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1017C>T (p.Tyr339=) single nucleotide variant not provided [RCV002780499] Chr18:47845781 [GRCh38]
Chr18:45372152 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.732C>T (p.Gly244=) single nucleotide variant not provided [RCV002570090] Chr18:47851326 [GRCh38]
Chr18:45377697 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.145G>A (p.Val49Met) single nucleotide variant not provided [RCV002847737] Chr18:47896612 [GRCh38]
Chr18:45422983 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.521-12G>A single nucleotide variant not provided [RCV003038062] Chr18:47868469 [GRCh38]
Chr18:45394840 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.447C>T (p.Cys149=) single nucleotide variant not provided [RCV002895066] Chr18:47869316 [GRCh38]
Chr18:45395687 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.953A>G (p.Asn318Ser) single nucleotide variant not provided [RCV002765699] Chr18:47848519 [GRCh38]
Chr18:45374890 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.972G>T (p.Thr324=) single nucleotide variant not provided [RCV002829619] Chr18:47848500 [GRCh38]
Chr18:45374871 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1374C>A (p.Ser458=) single nucleotide variant Inborn genetic diseases [RCV003167661]|not provided [RCV002701546] Chr18:47841857 [GRCh38]
Chr18:45368228 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.521-12G>C single nucleotide variant not provided [RCV002668011] Chr18:47868469 [GRCh38]
Chr18:45394840 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.785-11T>C single nucleotide variant not provided [RCV002663387] Chr18:47848698 [GRCh38]
Chr18:45375069 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1135+12A>G single nucleotide variant not provided [RCV002666976] Chr18:47845651 [GRCh38]
Chr18:45372022 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.587_595del (p.Tyr196_His198del) deletion not provided [RCV003023728] Chr18:47868383..47868391 [GRCh38]
Chr18:45394754..45394762 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.784+10A>C single nucleotide variant not provided [RCV002918653] Chr18:47851264 [GRCh38]
Chr18:45377635 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1280+12A>G single nucleotide variant not provided [RCV002572272] Chr18:47845328 [GRCh38]
Chr18:45371699 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.1376del (p.Pro459fs) deletion not provided [RCV003031215] Chr18:47841855 [GRCh38]
Chr18:45368226 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.827C>T (p.Ser276Leu) single nucleotide variant not provided [RCV003028478] Chr18:47848645 [GRCh38]
Chr18:45375016 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.12C>G (p.Ile4Met) single nucleotide variant not provided [RCV002597629] Chr18:47896745 [GRCh38]
Chr18:45423116 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.126G>T (p.Glu42Asp) single nucleotide variant not provided [RCV002898795] Chr18:47896631 [GRCh38]
Chr18:45423002 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.480A>G (p.Val160=) single nucleotide variant not provided [RCV003026449] Chr18:47869283 [GRCh38]
Chr18:45395654 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.999A>G (p.Gly333=) single nucleotide variant not provided [RCV003062697]|not specified [RCV003324068] Chr18:47845799 [GRCh38]
Chr18:45372170 [GRCh37]
Chr18:18q21.1		 benign|likely benign
NM_005901.6(SMAD2):c.828G>C (p.Ser276=) single nucleotide variant not provided [RCV002717378] Chr18:47848644 [GRCh38]
Chr18:45375015 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.74C>G (p.Ser25Cys) single nucleotide variant not provided [RCV002676328] Chr18:47896683 [GRCh38]
Chr18:45423054 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.784+12A>G single nucleotide variant not provided [RCV002586514] Chr18:47851262 [GRCh38]
Chr18:45377633 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1285C>G (p.Gln429Glu) single nucleotide variant not provided [RCV002612859] Chr18:47841946 [GRCh38]
Chr18:45368317 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.327-5A>G single nucleotide variant not provided [RCV002588993] Chr18:47869441 [GRCh38]
Chr18:45395812 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.732C>G (p.Gly244=) single nucleotide variant Inborn genetic diseases [RCV003278222] Chr18:47851326 [GRCh38]
Chr18:45377697 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.447C>G (p.Cys149Trp) single nucleotide variant not provided [RCV003225492] Chr18:47869316 [GRCh38]
Chr18:45395687 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.624A>G (p.Ala208=) single nucleotide variant Inborn genetic diseases [RCV003177356] Chr18:47868354 [GRCh38]
Chr18:45394725 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.579G>C (p.Leu193=) single nucleotide variant Inborn genetic diseases [RCV003177357] Chr18:47868399 [GRCh38]
Chr18:45394770 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.867C>G (p.Thr289=) single nucleotide variant Inborn genetic diseases [RCV003177358]|not provided [RCV003779557] Chr18:47848605 [GRCh38]
Chr18:45374976 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1212C>A (p.Ala404=) single nucleotide variant Inborn genetic diseases [RCV003177359] Chr18:47845408 [GRCh38]
Chr18:45371779 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.530C>A (p.Pro177Gln) single nucleotide variant Inborn genetic diseases [RCV003177360] Chr18:47868448 [GRCh38]
Chr18:45394819 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.919A>G (p.Asn307Asp) single nucleotide variant Inborn genetic diseases [RCV003177355]|not provided [RCV003720778] Chr18:47848553 [GRCh38]
Chr18:45374924 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1135+6G>C single nucleotide variant not specified [RCV003324142] Chr18:47845657 [GRCh38]
Chr18:45372028 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.960C>T (p.Asn320=) single nucleotide variant Inborn genetic diseases [RCV003341947] Chr18:47848512 [GRCh38]
Chr18:45374883 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.997+1G>T single nucleotide variant SMAD2-related cardiac disorders [RCV003335853] Chr18:47848474 [GRCh38]
Chr18:45374845 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.1161C>G (p.Asn387Lys) single nucleotide variant not provided [RCV003571498] Chr18:47845459 [GRCh38]
Chr18:45371830 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.527C>G (p.Pro176Arg) single nucleotide variant not provided [RCV003569248] Chr18:47868451 [GRCh38]
Chr18:45394822 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.398G>A (p.Arg133His) single nucleotide variant SMAD2-related disorder [RCV004552468] Chr18:47869365 [GRCh38]
Chr18:45395736 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.656-13dup duplication not provided [RCV003715962] Chr18:47865145..47865146 [GRCh38]
Chr18:45391516..45391517 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.219A>G (p.Lys73=) single nucleotide variant not provided [RCV003687278] Chr18:47896538 [GRCh38]
Chr18:45422909 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1136-9T>A single nucleotide variant not provided [RCV003848985] Chr18:47845493 [GRCh38]
Chr18:45371864 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.748T>A (p.Ser250Thr) single nucleotide variant not provided [RCV003576435] Chr18:47851310 [GRCh38]
Chr18:45377681 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.784+19C>T single nucleotide variant not provided [RCV003715395] Chr18:47851255 [GRCh38]
Chr18:45377626 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1136-5C>T single nucleotide variant not provided [RCV003878735] Chr18:47845489 [GRCh38]
Chr18:45371860 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.753T>G (p.Pro251=) single nucleotide variant not provided [RCV003715593] Chr18:47851305 [GRCh38]
Chr18:45377676 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.815C>T (p.Ala272Val) single nucleotide variant not provided [RCV003877856] Chr18:47848657 [GRCh38]
Chr18:45375028 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.961C>T (p.Arg321Ter) single nucleotide variant not provided [RCV003687894] Chr18:47848511 [GRCh38]
Chr18:45374882 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1234T>C (p.Cys412Arg) single nucleotide variant not provided [RCV003573403] Chr18:47845386 [GRCh38]
Chr18:45371757 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1279C>T (p.Arg427Ter) single nucleotide variant not provided [RCV003692496] Chr18:47845341 [GRCh38]
Chr18:45371712 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.521-4T>G single nucleotide variant not provided [RCV003699813] Chr18:47868461 [GRCh38]
Chr18:45394832 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.394T>A (p.Trp132Arg) single nucleotide variant not provided [RCV003697687] Chr18:47869369 [GRCh38]
Chr18:45395740 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_005901.6(SMAD2):c.320A>G (p.Gln107Arg) single nucleotide variant not provided [RCV003664538] Chr18:47870481 [GRCh38]
Chr18:45396852 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1281-16G>A single nucleotide variant not provided [RCV003674431] Chr18:47841966 [GRCh38]
Chr18:45368337 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.912C>T (p.Asp304=) single nucleotide variant not provided [RCV003700901] Chr18:47848560 [GRCh38]
Chr18:45374931 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.655+12T>C single nucleotide variant not provided [RCV003836521] Chr18:47868311 [GRCh38]
Chr18:45394682 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1289C>T (p.Thr430Met) single nucleotide variant not provided [RCV003671598] Chr18:47841942 [GRCh38]
Chr18:45368313 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.784+15T>G single nucleotide variant not provided [RCV003837229] Chr18:47851259 [GRCh38]
Chr18:45377630 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.392T>A (p.Leu131Ter) single nucleotide variant not provided [RCV003558293] Chr18:47869371 [GRCh38]
Chr18:45395742 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1044G>A (p.Glu348=) single nucleotide variant not provided [RCV003850831]|not specified [RCV004701853] Chr18:47845754 [GRCh38]
Chr18:45372125 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1287G>A (p.Gln429=) single nucleotide variant not provided [RCV003854353] Chr18:47841944 [GRCh38]
Chr18:45368315 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.994A>G (p.Ile332Val) single nucleotide variant not provided [RCV003671436] Chr18:47848478 [GRCh38]
Chr18:45374849 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1166A>G (p.Glu389Gly) single nucleotide variant not provided [RCV003723763] Chr18:47845454 [GRCh38]
Chr18:45371825 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.242G>C (p.Cys81Ser) single nucleotide variant not provided [RCV003702362] Chr18:47870559 [GRCh38]
Chr18:45396930 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.329C>T (p.Ser110Phe) single nucleotide variant not provided [RCV003701791] Chr18:47869434 [GRCh38]
Chr18:45395805 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.359G>A (p.Arg120Gln) single nucleotide variant not provided [RCV003725261] Chr18:47869404 [GRCh38]
Chr18:45395775 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.5C>T (p.Ser2Leu) single nucleotide variant not provided [RCV003666407] Chr18:47896752 [GRCh38]
Chr18:45423123 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.327-8C>G single nucleotide variant SMAD2-related disorder [RCV004548706]|not provided [RCV003823802] Chr18:47869444 [GRCh38]
Chr18:45395815 [GRCh37]
Chr18:18q21.1		 likely benign|uncertain significance
NM_005901.6(SMAD2):c.918A>C (p.Ser306=) single nucleotide variant not provided [RCV003675434] Chr18:47848554 [GRCh38]
Chr18:45374925 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1179T>C (p.Leu393=) single nucleotide variant not provided [RCV003542684] Chr18:47845441 [GRCh38]
Chr18:45371812 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.521-15_521-13dup duplication not provided [RCV003709421] Chr18:47868469..47868470 [GRCh38]
Chr18:45394840..45394841 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.500A>G (p.Tyr167Cys) single nucleotide variant not provided [RCV003562786] Chr18:47869263 [GRCh38]
Chr18:45395634 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1082A>G (p.Asn361Ser) single nucleotide variant not provided [RCV003562659] Chr18:47845716 [GRCh38]
Chr18:45372087 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.573G>A (p.Pro191=) single nucleotide variant not provided [RCV003727461] Chr18:47868405 [GRCh38]
Chr18:45394776 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1380A>G (p.Ser460=) single nucleotide variant not provided [RCV003552567] Chr18:47841851 [GRCh38]
Chr18:45368222 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.327-4A>G single nucleotide variant not provided [RCV003846369] Chr18:47869440 [GRCh38]
Chr18:45395811 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1280+9T>C single nucleotide variant not provided [RCV003857837] Chr18:47845331 [GRCh38]
Chr18:45371702 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1000A>C (p.Arg334=) single nucleotide variant not provided [RCV003685153] Chr18:47845798 [GRCh38]
Chr18:45372169 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1318C>T (p.Leu440Phe) single nucleotide variant not provided [RCV003719392] Chr18:47841913 [GRCh38]
Chr18:45368284 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.655+1G>C single nucleotide variant not provided [RCV003542830] Chr18:47868322 [GRCh38]
Chr18:45394693 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1281-10T>G single nucleotide variant not provided [RCV003684855] Chr18:47841960 [GRCh38]
Chr18:45368331 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.153G>A (p.Lys51=) single nucleotide variant not provided [RCV003686038] Chr18:47896604 [GRCh38]
Chr18:45422975 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.337G>A (p.Gly113Ser) single nucleotide variant not provided [RCV003568079] Chr18:47869426 [GRCh38]
Chr18:45395797 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.657A>G (p.Glu219=) single nucleotide variant not provided [RCV003845072] Chr18:47865132 [GRCh38]
Chr18:45391503 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.656-9C>T single nucleotide variant not provided [RCV003557481] Chr18:47865142 [GRCh38]
Chr18:45391513 [GRCh37]
Chr18:18q21.1		 likely benign
GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1 copy number loss not specified [RCV003987274] Chr18:33793283..46823898 [GRCh37]
Chr18:18q12.2-21.1		 pathogenic
NM_005901.6(SMAD2):c.1325T>G (p.Leu442Arg) single nucleotide variant not provided [RCV003723228] Chr18:47841906 [GRCh38]
Chr18:45368277 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.1135+14A>G single nucleotide variant not provided [RCV003858745] Chr18:47845649 [GRCh38]
Chr18:45372020 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.785-18T>A single nucleotide variant not provided [RCV003842602] Chr18:47848705 [GRCh38]
Chr18:45375076 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.414C>T (p.His138=) single nucleotide variant not provided [RCV003733610] Chr18:47869349 [GRCh38]
Chr18:45395720 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1188G>A (p.Gln396=) single nucleotide variant not provided [RCV003678039] Chr18:47845432 [GRCh38]
Chr18:45371803 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.372A>C (p.Pro124=) single nucleotide variant not provided [RCV003736446] Chr18:47869391 [GRCh38]
Chr18:45395762 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.521-14T>G single nucleotide variant not provided [RCV003846435] Chr18:47868471 [GRCh38]
Chr18:45394842 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.244T>C (p.Ser82Pro) single nucleotide variant not provided [RCV003568809] Chr18:47870557 [GRCh38]
Chr18:45396928 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.715C>G (p.Gln239Glu) single nucleotide variant not provided [RCV003563288] Chr18:47865074 [GRCh38]
Chr18:45391445 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1136-9del deletion not provided [RCV003707325] Chr18:47845493 [GRCh38]
Chr18:45371864 [GRCh37]
Chr18:18q21.1		 benign
NM_005901.6(SMAD2):c.399C>G (p.Arg133=) single nucleotide variant not provided [RCV003709344] Chr18:47869364 [GRCh38]
Chr18:45395735 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.609C>T (p.Asn203=) single nucleotide variant not provided [RCV003709423] Chr18:47868369 [GRCh38]
Chr18:45394740 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.26C>T (p.Pro9Leu) single nucleotide variant not provided [RCV003822811] Chr18:47896731 [GRCh38]
Chr18:45423102 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.626G>C (p.Gly209Ala) single nucleotide variant not provided [RCV003565046] Chr18:47868352 [GRCh38]
Chr18:45394723 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.873T>C (p.His291=) single nucleotide variant not provided [RCV003556620] Chr18:47848599 [GRCh38]
Chr18:45374970 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.591T>A (p.Thr197=) single nucleotide variant not provided [RCV003708139] Chr18:47868387 [GRCh38]
Chr18:45394758 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.1304C>G (p.Pro435Arg) single nucleotide variant SMAD2-related disorder [RCV004548874] Chr18:47841927 [GRCh38]
Chr18:45368298 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1201G>C (p.Gly401Arg) single nucleotide variant Inborn genetic diseases [RCV004523804] Chr18:47845419 [GRCh38]
Chr18:45371790 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1212C>T (p.Ala404=) single nucleotide variant Inborn genetic diseases [RCV004523805] Chr18:47845408 [GRCh38]
Chr18:45371779 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.177T>C (p.Asp59=) single nucleotide variant Inborn genetic diseases [RCV004523806] Chr18:47896580 [GRCh38]
Chr18:45422951 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.260T>A (p.Leu87Gln) single nucleotide variant Inborn genetic diseases [RCV004523807] Chr18:47870541 [GRCh38]
Chr18:45396912 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.263G>A (p.Ser88Asn) single nucleotide variant Inborn genetic diseases [RCV004523808] Chr18:47870538 [GRCh38]
Chr18:45396909 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.289G>C (p.Asp97His) single nucleotide variant Inborn genetic diseases [RCV004523809] Chr18:47870512 [GRCh38]
Chr18:45396883 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.333T>G (p.Leu111=) single nucleotide variant Inborn genetic diseases [RCV004523810] Chr18:47869430 [GRCh38]
Chr18:45395801 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.505A>C (p.Arg169=) single nucleotide variant Inborn genetic diseases [RCV004523811] Chr18:47869258 [GRCh38]
Chr18:45395629 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.735T>C (p.Ser245=) single nucleotide variant Inborn genetic diseases [RCV004523812] Chr18:47851323 [GRCh38]
Chr18:45377694 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.544dup (p.Arg182fs) duplication Congenital heart defects, multiple types, 8, with or without heterotaxy [RCV004560530] Chr18:47868433..47868434 [GRCh38]
Chr18:45394804..45394805 [GRCh37]
Chr18:18q21.1		 pathogenic
NM_005901.6(SMAD2):c.765C>T (p.Ser255=) single nucleotide variant not specified [RCV004586078] Chr18:47851293 [GRCh38]
Chr18:45377664 [GRCh37]
Chr18:18q21.1		 likely benign
NM_005901.6(SMAD2):c.353C>T (p.Ser118Phe) single nucleotide variant Inborn genetic diseases [RCV004667603] Chr18:47869410 [GRCh38]
Chr18:45395781 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.295A>T (p.Thr99Ser) single nucleotide variant Inborn genetic diseases [RCV004667604] Chr18:47870506 [GRCh38]
Chr18:45396877 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1045T>C (p.Cys349Arg) single nucleotide variant not provided [RCV004722371] Chr18:47845753 [GRCh38]
Chr18:45372124 [GRCh37]
Chr18:18q21.1		 likely pathogenic
NM_005901.6(SMAD2):c.968C>T (p.Ala323Val) single nucleotide variant SMAD2-related disorder [RCV004726419] Chr18:47848504 [GRCh38]
Chr18:45374875 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.381A>G (p.Ile127Met) single nucleotide variant not provided [RCV004729223] Chr18:47869382 [GRCh38]
Chr18:45395753 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.812C>T (p.Pro271Leu) single nucleotide variant not provided [RCV004774998] Chr18:47848660 [GRCh38]
Chr18:45375031 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.649A>G (p.Ile217Val) single nucleotide variant not provided [RCV004775630]|not specified [RCV004699741] Chr18:47868329 [GRCh38]
Chr18:45394700 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.418C>T (p.His140Tyr) single nucleotide variant SMAD2-related disorder [RCV004737739] Chr18:47869345 [GRCh38]
Chr18:45395716 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_005901.6(SMAD2):c.1063A>G (p.Ile355Val) single nucleotide variant not provided [RCV004773821] Chr18:47845735 [GRCh38]
Chr18:45372106 [GRCh37]
Chr18:18q21.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR200Bhsa-miR-200b-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23492772
MIR200Ahsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22020340
MIR155hsa-miR-155-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blot//Functional MTI21036908
MIR155hsa-miR-155-5pOncomiRDBexternal_infoNANA22426647

Predicted Target Of
Summary Value
Count of predictions:11062
Count of miRNA genes:1313
Interacting mature miRNAs:1696
Transcripts:ENST00000262160, ENST00000356825, ENST00000402690, ENST00000585978, ENST00000586040, ENST00000586487, ENST00000586514, ENST00000587269, ENST00000587353, ENST00000587421, ENST00000589877, ENST00000591214
Prediction methods:Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407059703GWAS708679_Heosinophil count QTL GWAS708679 (human)8e-17eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)184789930047899301Human
406933414GWAS582390_Hprostate carcinoma QTL GWAS582390 (human)3e-11prostate carcinoma184785464047854641Human
407102346GWAS751322_Hage at menarche QTL GWAS751322 (human)5e-08age at menarche184784532447845325Human
407333534GWAS982510_Heosinophil count QTL GWAS982510 (human)7e-12eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)184786145147861452Human
406937707GWAS586683_Hprostate carcinoma QTL GWAS586683 (human)5e-13prostate carcinoma184785464047854641Human
407344461GWAS993437_HDental enamel hypoplasia, dental caries, tooth agenesis QTL GWAS993437 (human)0.0000003Dental enamel hypoplasia, dental caries, tooth agenesis184788485047884851Human
407298058GWAS947034_Hcoronary artery disease QTL GWAS947034 (human)0.000002coronary artery disease184787298547872986Human
407167323GWAS816299_Heosinophil count QTL GWAS816299 (human)2e-09eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)184784409547844096Human

Markers in Region
RH69774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,438,071 - 45,438,253UniSTSGRCh37
Build 361843,692,069 - 43,692,251RGDNCBI36
Celera1842,287,228 - 42,287,410RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,287,484 - 42,287,666UniSTS
GeneMap99-GB4 RH Map18345.8UniSTS
NCBI RH Map18599.3UniSTS
RH17857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,422,931 - 45,423,146UniSTSGRCh37
Build 361843,676,929 - 43,677,144RGDNCBI36
Celera1842,272,086 - 42,272,301RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,272,348 - 42,272,563UniSTS
GeneMap99-GB4 RH Map18345.8UniSTS
NCBI RH Map18599.3UniSTS
SHGC-64255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,366,745 - 45,366,907UniSTSGRCh37
Build 361843,620,743 - 43,620,905RGDNCBI36
Celera1842,216,099 - 42,216,261RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,216,105 - 42,216,267UniSTS
TNG Radiation Hybrid Map1817689.0UniSTS
RH98251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,366,765 - 45,366,901UniSTSGRCh37
Build 361843,620,763 - 43,620,899RGDNCBI36
Celera1842,216,119 - 42,216,255RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,216,125 - 42,216,261UniSTS
GeneMap99-GB4 RH Map18347.95UniSTS
SHGC-148706  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,417,076 - 45,417,349UniSTSGRCh37
Build 361843,671,074 - 43,671,347RGDNCBI36
Celera1842,266,234 - 42,266,507RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,266,494 - 42,266,767UniSTS
TNG Radiation Hybrid Map1817712.0UniSTS
MADH2_1658  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,367,628 - 45,368,251UniSTSGRCh37
Build 361843,621,626 - 43,622,249RGDNCBI36
Celera1842,216,982 - 42,217,605RGD
HuRef1842,216,988 - 42,217,611UniSTS
D18S1312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,360,275 - 45,360,423UniSTSGRCh37
Build 361843,614,273 - 43,614,421RGDNCBI36
Celera1842,209,625 - 42,209,773RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,209,631 - 42,209,779UniSTS
Stanford-G3 RH Map181788.0UniSTS
NCBI RH Map18582.3UniSTS
GeneMap99-G3 RH Map181788.0UniSTS
RH12141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,361,232 - 45,361,372UniSTSGRCh37
Build 361843,615,230 - 43,615,370RGDNCBI36
Celera1842,210,586 - 42,210,726RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,210,592 - 42,210,732UniSTS
GeneMap99-GB4 RH Map18345.8UniSTS
NCBI RH Map18599.9UniSTS
RH47015  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,368,198 - 45,368,319UniSTSGRCh37
Build 361843,622,196 - 43,622,317RGDNCBI36
Celera1842,217,552 - 42,217,673RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,217,558 - 42,217,679UniSTS
GeneMap99-GB4 RH Map18347.85UniSTS
NCBI RH Map18589.6UniSTS
RH66619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,364,842 - 45,364,980UniSTSGRCh37
Build 361843,618,840 - 43,618,978RGDNCBI36
Celera1842,214,197 - 42,214,335RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,214,203 - 42,214,341UniSTS
GeneMap99-GB4 RH Map18347.95UniSTS
NCBI RH Map18589.6UniSTS
WIAF-1471  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera1842,210,239 - 42,210,376RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,210,245 - 42,210,382UniSTS
GeneMap99-GB4 RH Map18345.8UniSTS
NCBI RH Map18599.9UniSTS
RH18445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,438,073 - 45,438,245UniSTSGRCh37
Build 361843,692,071 - 43,692,243RGDNCBI36
Celera1842,287,230 - 42,287,402RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,287,486 - 42,287,658UniSTS
GeneMap99-GB4 RH Map18345.74UniSTS
NCBI RH Map18598.7UniSTS
SHGC-16176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,439,048 - 45,439,182UniSTSGRCh37
Build 361843,693,046 - 43,693,180RGDNCBI36
Celera1842,288,205 - 42,288,339RGD
Cytogenetic Map18q21.1UniSTS
HuRef1842,288,461 - 42,288,595UniSTS
MARC_10275-10276:998924078:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371845,371,772 - 45,372,149UniSTSGRCh37
Build 361843,625,770 - 43,626,147RGDNCBI36
Celera1842,221,126 - 42,221,503RGD
HuRef1842,221,132 - 42,221,509UniSTS
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
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001003652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA081871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA418737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC026898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC120349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF027964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI087928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI453799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI765747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY134745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC025699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI258844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ018815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ900993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU167620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU517178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX491944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR992221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB035686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB462454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC371139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U59911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U65019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U68018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262160   ⟹   ENSP00000262160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,808,957 - 47,930,659 (-)Ensembl
Ensembl Acc Id: ENST00000356825   ⟹   ENSP00000349282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,833,096 - 47,931,146 (-)Ensembl
Ensembl Acc Id: ENST00000402690   ⟹   ENSP00000384449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,831,551 - 47,931,141 (-)Ensembl
Ensembl Acc Id: ENST00000585978   ⟹   ENSP00000468732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,870,475 - 47,923,642 (-)Ensembl
Ensembl Acc Id: ENST00000586040   ⟹   ENSP00000466193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,841,225 - 47,896,811 (-)Ensembl
Ensembl Acc Id: ENST00000586487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,869,422 - 47,895,725 (-)Ensembl
Ensembl Acc Id: ENST00000586514   ⟹   ENSP00000465355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,868,327 - 47,930,837 (-)Ensembl
Ensembl Acc Id: ENST00000587269   ⟹   ENSP00000466254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,868,326 - 47,930,599 (-)Ensembl
Ensembl Acc Id: ENST00000587353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,868,263 - 47,886,923 (-)Ensembl
Ensembl Acc Id: ENST00000587421   ⟹   ENSP00000468202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,869,352 - 47,930,362 (-)Ensembl
Ensembl Acc Id: ENST00000589877   ⟹   ENSP00000465971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,870,473 - 47,930,855 (-)Ensembl
Ensembl Acc Id: ENST00000591214   ⟹   ENSP00000467075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,844,912 - 47,930,842 (-)Ensembl
RefSeq Acc Id: NM_001003652   ⟹   NP_001003652
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381847,808,957 - 47,930,872 (-)NCBI
GRCh371845,359,466 - 45,457,564 (-)NCBI
Build 361843,613,464 - 43,711,510 (-)NCBI Archive
HuRef1842,208,822 - 42,306,925 (-)NCBI
CHM1_11845,354,416 - 45,452,506 (-)NCBI
T2T-CHM13v2.01847,999,960 - 48,121,861 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001135937   ⟹   NP_001129409
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381847,808,957 - 47,930,872 (-)NCBI
GRCh371845,359,466 - 45,457,564 (-)NCBI
HuRef1842,208,822 - 42,306,925 (-)NCBI
CHM1_11845,354,416 - 45,452,506 (-)NCBI
T2T-CHM13v2.01847,999,960 - 48,121,861 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005901   ⟹   NP_005892
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381847,808,957 - 47,930,659 (-)NCBI
GRCh371845,359,466 - 45,457,564 (-)NCBI
Build 361843,613,464 - 43,710,924 (-)NCBI Archive
HuRef1842,208,822 - 42,306,925 (-)NCBI
CHM1_11845,354,416 - 45,451,959 (-)NCBI
T2T-CHM13v2.01847,999,960 - 48,121,648 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017025749   ⟹   XP_016881238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381847,853,273 - 47,930,872 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437507   ⟹   XP_047293463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381847,853,273 - 47,930,872 (-)NCBI
RefSeq Acc Id: XM_047437508   ⟹   XP_047293464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381847,853,273 - 47,930,872 (-)NCBI
RefSeq Acc Id: XM_054318620   ⟹   XP_054174595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01848,044,227 - 48,121,861 (-)NCBI
RefSeq Acc Id: XM_054318621   ⟹   XP_054174596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01848,044,227 - 48,121,861 (-)NCBI
RefSeq Acc Id: XM_054318622   ⟹   XP_054174597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01848,044,227 - 48,121,861 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001003652 (Get FASTA)   NCBI Sequence Viewer  
  NP_001129409 (Get FASTA)   NCBI Sequence Viewer  
  NP_005892 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881238 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293463 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293464 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174595 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174596 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174597 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB17054 (Get FASTA)   NCBI Sequence Viewer  
  AAB17087 (Get FASTA)   NCBI Sequence Viewer  
  AAC50789 (Get FASTA)   NCBI Sequence Viewer  
  AAC51918 (Get FASTA)   NCBI Sequence Viewer  
  AAH14840 (Get FASTA)   NCBI Sequence Viewer  
  AAH25699 (Get FASTA)   NCBI Sequence Viewer  
  AAN08619 (Get FASTA)   NCBI Sequence Viewer  
  AAP36090 (Get FASTA)   NCBI Sequence Viewer  
  BAG35802 (Get FASTA)   NCBI Sequence Viewer  
  BAH12971 (Get FASTA)   NCBI Sequence Viewer  
  EAW62914 (Get FASTA)   NCBI Sequence Viewer  
  EAW62915 (Get FASTA)   NCBI Sequence Viewer  
  EAW62916 (Get FASTA)   NCBI Sequence Viewer  
  EAW62917 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262160
  ENSP00000262160.6
  ENSP00000349282
  ENSP00000349282.4
  ENSP00000384449
  ENSP00000384449.1
  ENSP00000465355
  ENSP00000465355.1
  ENSP00000465971.1
  ENSP00000466193.1
  ENSP00000466254
  ENSP00000466254.1
  ENSP00000467075.1
  ENSP00000468202.1
  ENSP00000468732.1
GenBank Protein Q15796 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001129409   ⟸   NM_001135937
- Peptide Label: isoform 2
- UniProtKB: A0AAQ5BHK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001003652   ⟸   NM_001003652
- Peptide Label: isoform 1
- UniProtKB: Q15796 (UniProtKB/Swiss-Prot),   Q53XR6 (UniProtKB/TrEMBL),   A0AAQ5BHK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005892   ⟸   NM_005901
- Peptide Label: isoform 1
- UniProtKB: Q15796 (UniProtKB/Swiss-Prot),   Q53XR6 (UniProtKB/TrEMBL),   A0AAQ5BHK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881238   ⟸   XM_017025749
- Peptide Label: isoform X1
- UniProtKB: K7EJX0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000468732   ⟸   ENST00000585978
Ensembl Acc Id: ENSP00000466193   ⟸   ENST00000586040
Ensembl Acc Id: ENSP00000465355   ⟸   ENST00000586514
Ensembl Acc Id: ENSP00000384449   ⟸   ENST00000402690
Ensembl Acc Id: ENSP00000468202   ⟸   ENST00000587421
Ensembl Acc Id: ENSP00000466254   ⟸   ENST00000587269
Ensembl Acc Id: ENSP00000465971   ⟸   ENST00000589877
Ensembl Acc Id: ENSP00000262160   ⟸   ENST00000262160
Ensembl Acc Id: ENSP00000467075   ⟸   ENST00000591214
Ensembl Acc Id: ENSP00000349282   ⟸   ENST00000356825
RefSeq Acc Id: XP_047293464   ⟸   XM_047437508
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293463   ⟸   XM_047437507
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174597   ⟸   XM_054318622
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174595   ⟸   XM_054318620
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174596   ⟸   XM_054318621
- Peptide Label: isoform X1
Protein Domains
MH1   MH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15796-F1-model_v2 AlphaFold Q15796 1-467 view protein structure

Promoters
RGD ID:6795007
Promoter ID:HG_KWN:27984
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000356825,   NM_001003652,   NM_001135937,   OTTHUMT00000255903
Position:
Human AssemblyChrPosition (strand)Source
Build 361843,711,246 - 43,711,827 (-)MPROMDB
RGD ID:7237275
Promoter ID:EPDNEW_H24384
Type:initiation region
Name:SMAD2_2
Description:SMAD family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24385  EPDNEW_H24386  EPDNEW_H24387  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381847,930,577 - 47,930,637EPDNEW
RGD ID:7237277
Promoter ID:EPDNEW_H24385
Type:initiation region
Name:SMAD2_3
Description:SMAD family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24384  EPDNEW_H24386  EPDNEW_H24387  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381847,930,872 - 47,930,932EPDNEW
RGD ID:7237279
Promoter ID:EPDNEW_H24386
Type:initiation region
Name:SMAD2_1
Description:SMAD family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24384  EPDNEW_H24385  EPDNEW_H24387  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381847,931,090 - 47,931,150EPDNEW
RGD ID:7237283
Promoter ID:EPDNEW_H24387
Type:multiple initiation site
Name:SMAD2_4
Description:SMAD family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24384  EPDNEW_H24385  EPDNEW_H24386  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381847,931,554 - 47,931,614EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6768 AgrOrtholog
COSMIC SMAD2 COSMIC
Ensembl Genes ENSG00000175387 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262160 ENTREZGENE
  ENST00000262160.11 UniProtKB/Swiss-Prot
  ENST00000356825 ENTREZGENE
  ENST00000356825.8 UniProtKB/Swiss-Prot
  ENST00000402690 ENTREZGENE
  ENST00000402690.6 UniProtKB/Swiss-Prot
  ENST00000585978.1 UniProtKB/TrEMBL
  ENST00000586040.5 UniProtKB/Swiss-Prot
  ENST00000586514 ENTREZGENE
  ENST00000586514.5 UniProtKB/TrEMBL
  ENST00000587269 ENTREZGENE
  ENST00000587269.5 UniProtKB/TrEMBL
  ENST00000587421.5 UniProtKB/TrEMBL
  ENST00000589877.5 UniProtKB/TrEMBL
  ENST00000591214.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.200.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.520.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000175387 GTEx
HGNC ID HGNC:6768 ENTREZGENE
Human Proteome Map SMAD2 Human Proteome Map
InterPro Dwarfin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAD_homology1_Dwarfin-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAD_homology_MH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_dom_Dwarfin-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_FHA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_MH1_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4087 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4087 ENTREZGENE
OMIM 601366 OMIM
PANTHER MOTHERS AGAINST DECAPENTAPLEGIC HOMOLOG 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13703 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134959722 PharmGKB
PROSITE MH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DWB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49879 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56366 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0AAQ5BHK2 ENTREZGENE
  B7Z5N5_HUMAN UniProtKB/TrEMBL
  K7EJX0 ENTREZGENE, UniProtKB/TrEMBL
  K7EL92_HUMAN UniProtKB/TrEMBL
  K7ERC7_HUMAN UniProtKB/TrEMBL
  K7ESI8_HUMAN UniProtKB/TrEMBL
  Q15796 ENTREZGENE
  Q53XR6 ENTREZGENE, UniProtKB/TrEMBL
  SMAD2_HUMAN UniProtKB/Swiss-Prot