GOSR2 (golgi SNAP receptor complex member 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: GOSR2 (golgi SNAP receptor complex member 2) Homo sapiens
Analyze
Symbol: GOSR2
Name: golgi SNAP receptor complex member 2
RGD ID: 731739
HGNC Page HGNC:4431
Description: Predicted to enable SNAP receptor activity and SNARE binding activity. Involved in intra-Golgi vesicle-mediated transport. Located in Golgi membrane; cytosol; and nucleoplasm. Implicated in progressive myoclonus epilepsy 6.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 27 kDa Golgi SNARE protein; Bos1; EPM6; GS27; membrin; MYOS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC017100.2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381746,923,160 - 46,975,890 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1746,923,075 - 46,975,524 (+)EnsemblGRCh38hg38GRCh38
GRCh371745,000,526 - 45,044,366 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361742,355,485 - 42,373,732 (+)NCBINCBI36Build 36hg18NCBI36
Build 341742,355,484 - 42,373,731NCBI
Celera1741,450,000 - 41,468,246 (+)NCBICelera
Cytogenetic Map17q21.32NCBI
HuRef1740,378,679 - 40,396,926 (+)NCBIHuRef
CHM1_11745,064,613 - 45,082,858 (+)NCBICHM1_1
T2T-CHM13v2.01747,784,606 - 47,837,321 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
acrolein  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (ISO)
bisphenol A  (ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bortezomib  (EXP)
C60 fullerene  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chromium(6+)  (ISO)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dibutyl phthalate  (ISO)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
glafenine  (ISO)
glycerol  (EXP)
hydroquinone  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (EXP)
niclosamide  (EXP)
nicotine  (EXP)
ozone  (EXP)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propane-1,2-diol  (EXP)
propiconazole  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (ISO)
testosterone  (EXP,ISO)
tetrachloro-1,4-benzoquinone  (EXP)
tetrachloromethane  (ISO)
trichostatin A  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. A SNARE involved in protein transport through the Golgi apparatus. Lowe SL, etal., Nature 1997 Oct 23;389(6653):881-4.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9094723   PMID:9647643   PMID:10198168   PMID:10903204   PMID:11035026   PMID:11927603   PMID:12477932   PMID:15489334   PMID:15781476   PMID:16081076   PMID:16341674   PMID:18187620  
PMID:18843296   PMID:19057520   PMID:19584346   PMID:19946888   PMID:20379614   PMID:21076409   PMID:21549339   PMID:21832049   PMID:21873635   PMID:21909110   PMID:21909115   PMID:23313660  
PMID:23387339   PMID:23449775   PMID:23675987   PMID:24458321   PMID:24623722   PMID:25416956   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26760525   PMID:27342126  
PMID:27618868   PMID:28514442   PMID:28978487   PMID:28982678   PMID:29117863   PMID:29180619   PMID:29395067   PMID:29568061   PMID:29855340   PMID:30194290   PMID:30833792   PMID:31056421  
PMID:31732153   PMID:31871319   PMID:32296183   PMID:32877691   PMID:33545068   PMID:33845483   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34432599   PMID:34882091  
PMID:35132965   PMID:35271311   PMID:35944360   PMID:36215168   PMID:36300783   PMID:36610398   PMID:36949045   PMID:37774976   PMID:37827155   PMID:37895210  


Genomics

Comparative Map Data
GOSR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381746,923,160 - 46,975,890 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1746,923,075 - 46,975,524 (+)EnsemblGRCh38hg38GRCh38
GRCh371745,000,526 - 45,044,366 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361742,355,485 - 42,373,732 (+)NCBINCBI36Build 36hg18NCBI36
Build 341742,355,484 - 42,373,731NCBI
Celera1741,450,000 - 41,468,246 (+)NCBICelera
Cytogenetic Map17q21.32NCBI
HuRef1740,378,679 - 40,396,926 (+)NCBIHuRef
CHM1_11745,064,613 - 45,082,858 (+)NCBICHM1_1
T2T-CHM13v2.01747,784,606 - 47,837,321 (+)NCBIT2T-CHM13v2.0
Gosr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911103,567,675 - 103,590,139 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11103,567,675 - 103,588,724 (-)EnsemblGRCm39 Ensembl
GRCm3811103,676,849 - 103,697,723 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11103,676,849 - 103,697,898 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711103,538,163 - 103,559,024 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611103,492,949 - 103,513,784 (-)NCBIMGSCv36mm8
Celera11115,389,487 - 115,410,387 (-)NCBICelera
Cytogenetic Map11E1NCBI
cM Map1167.43NCBI
Gosr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81089,085,323 - 89,105,665 (-)NCBIGRCr8
mRatBN7.21088,585,291 - 88,605,642 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1088,586,299 - 88,605,625 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1093,624,694 - 93,644,020 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01093,089,832 - 93,109,168 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01088,483,187 - 88,502,522 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01091,735,772 - 91,756,123 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1091,736,780 - 91,756,081 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01091,503,271 - 91,522,573 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41092,830,987 - 92,850,289 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11092,845,357 - 92,864,659 (-)NCBI
Celera1087,285,744 - 87,305,046 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Gosr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547810,868,912 - 10,889,405 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547810,868,912 - 10,889,405 (+)NCBIChiLan1.0ChiLan1.0
GOSR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21918,049,772 - 18,093,911 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11720,015,680 - 20,060,277 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01710,561,574 - 10,580,489 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11710,715,176 - 10,759,013 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1710,715,452 - 10,759,004 (-)Ensemblpanpan1.1panPan2
GOSR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1910,201,625 - 10,220,688 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha910,077,702 - 10,096,752 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0911,791,873 - 11,810,998 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl911,792,187 - 11,812,043 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1910,802,761 - 10,821,885 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0916,700,143 - 16,719,222 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0916,647,474 - 16,666,579 (-)NCBIUU_Cfam_GSD_1.0
Gosr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560217,328,552 - 17,349,665 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365411,839,045 - 1,866,074 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365411,845,501 - 1,866,014 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GOSR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1217,768,111 - 17,789,315 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11217,768,082 - 17,799,313 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21217,854,276 - 17,875,499 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GOSR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11660,630,505 - 60,664,596 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1660,630,509 - 60,646,133 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607731,354,272 - 31,390,259 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gosr2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248493,009,505 - 3,027,501 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248493,006,497 - 3,029,334 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GOSR2
297 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004287.5(GOSR2):c.636A>G (p.Thr212=) single nucleotide variant Progressive myoclonic epilepsy [RCV000551466] Chr17:46938757 [GRCh38]
Chr17:45016123 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
NM_004287.5(GOSR2):c.149G>A (p.Arg50His) single nucleotide variant Progressive myoclonic epilepsy [RCV001204969]|not provided [RCV000519596] Chr17:46931153 [GRCh38]
Chr17:45008519 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) single nucleotide variant Muscular dystrophy [RCV000509417]|Muscular dystrophy, congenital, with or without seizures [RCV002472356]|Progressive myoclonic epilepsy [RCV001068291]|Progressive myoclonic epilepsy type 6 [RCV000023359]|not provided [RCV000478768] Chr17:46935122 [GRCh38]
Chr17:45012488 [GRCh37]
Chr17:17q21.32		 pathogenic|not provided
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|See cases [RCV000052480] Chr17:44955325..49381173 [GRCh38]
Chr17:43032693..47458535 [GRCh37]
Chr17:40388219..44813534 [NCBI36]
Chr17:17q21.31-21.33		 pathogenic
GRCh38/hg38 17q21.31-21.32(chr17:46444520-46990403)x3 copy number gain See cases [RCV000053135] Chr17:46444520..46990403 [GRCh38]
Chr17:44485771..45067769 [GRCh37]
Chr17:41841187..42422768 [NCBI36]
Chr17:17q21.31-21.32		 uncertain significance
NM_004287.3(GOSR2):c.383C>T (p.Ser128Phe) single nucleotide variant Malignant melanoma [RCV000063233] Chr17:46935075 [GRCh38]
Chr17:45012441 [GRCh37]
Chr17:42367440 [NCBI36]
Chr17:17q21.32		 not provided
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) single nucleotide variant Inborn genetic diseases [RCV002312117]|Myoclonic epilepsy, progressive, X-linked [RCV000989942]|Progressive myoclonic epilepsy [RCV000276471]|Progressive myoclonic epilepsy type 6 [RCV001701753]|not provided [RCV000711830]|not specified [RCV000117154] Chr17:46931204 [GRCh38]
Chr17:45008570 [GRCh37]
Chr17:17q21.32		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004287.5(GOSR2):c.-30G>C single nucleotide variant Progressive myoclonic epilepsy [RCV000304282]|Progressive myoclonic epilepsy type 6 [RCV001701609]|not specified [RCV000125250] Chr17:46923163 [GRCh38]
Chr17:45000529 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) single nucleotide variant Inborn genetic diseases [RCV002312566]|Progressive myoclonic epilepsy [RCV000227553]|not specified [RCV000173332] Chr17:46923199 [GRCh38]
Chr17:45000565 [GRCh37]
Chr17:17q21.32		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_004287.5(GOSR2):c.29+8C>T single nucleotide variant Progressive myoclonic epilepsy [RCV001088528]|Progressive myoclonic epilepsy type 6 [RCV001124181]|not provided [RCV000725870]|not specified [RCV000125252] Chr17:46923229 [GRCh38]
Chr17:45000595 [GRCh37]
Chr17:17q21.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.248C>T (p.Ala83Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001348647] Chr17:46932111 [GRCh38]
Chr17:45009477 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.100G>T (p.Glu34Ter) single nucleotide variant Epilepsy, progressive myoclonic 6 [RCV001333217] Chr17:46931104 [GRCh38]
Chr17:45008470 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.-12G>C single nucleotide variant Progressive myoclonic epilepsy [RCV000394196]|Progressive myoclonic epilepsy type 6 [RCV000604039]|not provided [RCV001618323]|not specified [RCV000173331] Chr17:46923181 [GRCh38]
Chr17:45000547 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.29+3G>A single nucleotide variant Progressive myoclonic epilepsy [RCV001852109]|not provided [RCV000173333] Chr17:46923224 [GRCh38]
Chr17:45000590 [GRCh37]
Chr17:17q21.32		 uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
NM_004287.5(GOSR2):c.57G>A (p.Met19Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV000534466]|not provided [RCV000711831] Chr17:46929547 [GRCh38]
Chr17:45006913 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.29+1G>A single nucleotide variant not provided [RCV000255066] Chr17:46923222 [GRCh38]
Chr17:45000588 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_004287.5(GOSR2):c.336+1G>A single nucleotide variant Inborn genetic diseases [RCV002317685]|Muscular dystrophy, congenital, with or without seizures [RCV002478670]|Progressive myoclonic epilepsy [RCV000703812]|Progressive myoclonic epilepsy type 6 [RCV000194518]|not provided [RCV000439078] Chr17:46932200 [GRCh38]
Chr17:45009566 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_004287.5(GOSR2):c.478-4C>G single nucleotide variant Progressive myoclonic epilepsy [RCV001414306]|not provided [RCV000179432] Chr17:46938595 [GRCh38]
Chr17:45015961 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_004287.5(GOSR2):c.485AGA[2] (p.Lys164del) microsatellite Progressive myoclonic epilepsy type 6 [RCV000190901] Chr17:46938606..46938608 [GRCh38]
Chr17:45015972..45015974 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.478-20dup duplication not specified [RCV000187610] Chr17:46938570..46938571 [GRCh38]
Chr17:45015936..45015937 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.94+4A>G single nucleotide variant Inborn genetic diseases [RCV002372148]|Progressive myoclonic epilepsy [RCV001857616]|not provided [RCV000187618] Chr17:46929588 [GRCh38]
Chr17:45006954 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.557_584del (p.Ala186fs) deletion Progressive myoclonic epilepsy [RCV000818051]|not provided [RCV000187620] Chr17:46938676..46938703 [GRCh38]
Chr17:45016042..45016069 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.-23C>A single nucleotide variant not specified [RCV000187611] Chr17:46923170 [GRCh38]
Chr17:45000536 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys) single nucleotide variant Inborn genetic diseases [RCV002317105]|Progressive myoclonic epilepsy [RCV000307040]|not specified [RCV000187612] Chr17:46929530 [GRCh38]
Chr17:45006896 [GRCh37]
Chr17:17q21.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.111C>T (p.Ile37=) single nucleotide variant Inborn genetic diseases [RCV002433843]|Progressive myoclonic epilepsy [RCV001418293]|Progressive myoclonic epilepsy type 6 [RCV002500573]|not provided [RCV002054203]|not specified [RCV000187613] Chr17:46931115 [GRCh38]
Chr17:45008481 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys) single nucleotide variant Inborn genetic diseases [RCV002390493]|Progressive myoclonic epilepsy [RCV000364005]|not provided [RCV000858536] Chr17:46931152 [GRCh38]
Chr17:45008518 [GRCh37]
Chr17:17q21.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe) single nucleotide variant Progressive myoclonic epilepsy [RCV001408579]|not provided [RCV000187615] Chr17:46935080 [GRCh38]
Chr17:45012446 [GRCh37]
Chr17:17q21.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser) single nucleotide variant Inborn genetic diseases [RCV002336496]|Progressive myoclonic epilepsy [RCV000461893]|Progressive myoclonic epilepsy type 6 [RCV002485269]|not provided [RCV000187616] Chr17:46938630 [GRCh38]
Chr17:45015996 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.-1C>T single nucleotide variant Inborn genetic diseases [RCV002415805]|not provided [RCV000187617] Chr17:46923192 [GRCh38]
Chr17:45000558 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro) single nucleotide variant Inborn genetic diseases [RCV002444759]|Progressive myoclonic epilepsy [RCV001478495]|not provided [RCV000187619] Chr17:46932185 [GRCh38]
Chr17:45009551 [GRCh37]
Chr17:17q21.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.206G>A (p.Arg69Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV001204175]|not provided [RCV000187621] Chr17:46932069 [GRCh38]
Chr17:45009435 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.17A>G (p.Gln6Arg) single nucleotide variant Inborn genetic diseases [RCV002413494]|Progressive myoclonic epilepsy [RCV001400542] Chr17:46923209 [GRCh38]
Chr17:45000575 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_004287.5(GOSR2):c.205C>T (p.Arg69Trp) single nucleotide variant Progressive myoclonic epilepsy [RCV000557503] Chr17:46932068 [GRCh38]
Chr17:45009434 [GRCh37]
Chr17:17q21.32		 uncertain significance
chr17:45008570..45994044 complex variant complex Breast ductal adenocarcinoma [RCV000207217] Chr17:45008570..45994044 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.405C>T (p.Asn135=) single nucleotide variant Progressive myoclonic epilepsy [RCV000526568]|not specified [RCV000249540] Chr17:46935097 [GRCh38]
Chr17:45012463 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.*1703A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000265878] Chr17:46940463 [GRCh38]
Chr17:45017829 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*2057C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000285387] Chr17:46940817 [GRCh38]
Chr17:45018183 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*301T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000287401]|not provided [RCV001653581] Chr17:46939061 [GRCh38]
Chr17:45016427 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.*2192T>G single nucleotide variant Progressive myoclonic epilepsy [RCV000291424] Chr17:46940952 [GRCh38]
Chr17:45018318 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*18G>T single nucleotide variant Progressive myoclonic epilepsy [RCV000279102]|not specified [RCV000423780] Chr17:46938778 [GRCh38]
Chr17:45016144 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_004287.5(GOSR2):c.*2293G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000298471] Chr17:46941053 [GRCh38]
Chr17:45018419 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.*2342A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000299482] Chr17:46941102 [GRCh38]
Chr17:45018468 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.*1115G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000367699] Chr17:46939875 [GRCh38]
Chr17:45017241 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.29+13C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002521112]|Progressive myoclonic epilepsy type 6 [RCV000273022]|not specified [RCV000418567] Chr17:46923234 [GRCh38]
Chr17:45000600 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_004287.5(GOSR2):c.*2195C>A single nucleotide variant Progressive myoclonic epilepsy [RCV000346352] Chr17:46940955 [GRCh38]
Chr17:45018321 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*1277C>G single nucleotide variant Progressive myoclonic epilepsy [RCV000277618] Chr17:46940037 [GRCh38]
Chr17:45017403 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*1655A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000319920]|not provided [RCV001718675] Chr17:46940415 [GRCh38]
Chr17:45017781 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_004287.5(GOSR2):c.*1711G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000321031]|not provided [RCV001683302] Chr17:46940471 [GRCh38]
Chr17:45017837 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.*1679A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000374521] Chr17:46940439 [GRCh38]
Chr17:45017805 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val) single nucleotide variant Progressive myoclonic epilepsy [RCV000375914]|not provided [RCV001575029] Chr17:46938662 [GRCh38]
Chr17:45016028 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.363C>T (p.Asp121=) single nucleotide variant Progressive myoclonic epilepsy [RCV000275507] Chr17:46935055 [GRCh38]
Chr17:45012421 [GRCh37]
Chr17:17q21.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.*2336A>T single nucleotide variant Progressive myoclonic epilepsy [RCV000353392] Chr17:46941096 [GRCh38]
Chr17:45018462 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*2589T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000264351] Chr17:46941349 [GRCh38]
Chr17:45018715 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*1446A>T single nucleotide variant Progressive myoclonic epilepsy [RCV000354845] Chr17:46940206 [GRCh38]
Chr17:45017572 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*286G>T single nucleotide variant Progressive myoclonic epilepsy [RCV000379477] Chr17:46939046 [GRCh38]
Chr17:45016412 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*1733A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000379876]|not provided [RCV001636912] Chr17:46940493 [GRCh38]
Chr17:45017859 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.246T>C (p.Thr82=) single nucleotide variant Inborn genetic diseases [RCV002317840]|Progressive myoclonic epilepsy [RCV000334065]|not provided [RCV001553153] Chr17:46932109 [GRCh38]
Chr17:45009475 [GRCh37]
Chr17:17q21.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.336+9G>A single nucleotide variant GOSR2-related condition [RCV003940279]|Progressive myoclonic epilepsy [RCV000386264]|Progressive myoclonic epilepsy type 6 [RCV001094534]|not specified [RCV000438604] Chr17:46932208 [GRCh38]
Chr17:45009574 [GRCh37]
Chr17:17q21.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.*288_*296dup duplication Progressive myoclonic epilepsy [RCV000336542]|not provided [RCV001675820] Chr17:46939046..46939047 [GRCh38]
Chr17:45016412..45016413 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_004287.5(GOSR2):c.*1105A>T single nucleotide variant Progressive myoclonic epilepsy [RCV000313103] Chr17:46939865 [GRCh38]
Chr17:45017231 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*1377G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000314008] Chr17:46940137 [GRCh38]
Chr17:45017503 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*2292C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000395162] Chr17:46941052 [GRCh38]
Chr17:45018418 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.*1067G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000396621] Chr17:46939827 [GRCh38]
Chr17:45017193 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.*1519T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000259803]|not provided [RCV001690072] Chr17:46940279 [GRCh38]
Chr17:45017645 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.*1062A>T single nucleotide variant Progressive myoclonic epilepsy [RCV000348049] Chr17:46939822 [GRCh38]
Chr17:45017188 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.*2337T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000402004] Chr17:46941097 [GRCh38]
Chr17:45018463 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.-7C>G single nucleotide variant Progressive myoclonic epilepsy [RCV000303520] Chr17:46923186 [GRCh38]
Chr17:45000552 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.404A>G (p.Asn135Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV000318881] Chr17:46935096 [GRCh38]
Chr17:45012462 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*2291C>G single nucleotide variant Progressive myoclonic epilepsy [RCV000352296] Chr17:46941051 [GRCh38]
Chr17:45018417 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.447T>C (p.Asp149=) single nucleotide variant Progressive myoclonic epilepsy [RCV001413887]|not provided [RCV000598129] Chr17:46935139 [GRCh38]
Chr17:45012505 [GRCh37]
Chr17:17q21.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.*2190TC[2] microsatellite Progressive myoclonic epilepsy [RCV000381049] Chr17:46940949..46940950 [GRCh38]
Chr17:45018315..45018316 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*2253C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000292161] Chr17:46941013 [GRCh38]
Chr17:45018379 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*2213G>T single nucleotide variant Progressive myoclonic epilepsy [RCV000404196] Chr17:46940973 [GRCh38]
Chr17:45018339 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*804A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000307323] Chr17:46939564 [GRCh38]
Chr17:45016930 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.4(GOSR2):c.-64G>T single nucleotide variant Progressive myoclonic epilepsy [RCV000394195] Chr17:46923129 [GRCh38]
Chr17:45000495 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*2068C>G single nucleotide variant Progressive myoclonic epilepsy [RCV000326463] Chr17:46940828 [GRCh38]
Chr17:45018194 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*332A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000342329] Chr17:46939092 [GRCh38]
Chr17:45016458 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.-20T>G single nucleotide variant Progressive myoclonic epilepsy [RCV000343191] Chr17:46923173 [GRCh38]
Chr17:45000539 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*2573G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000359070] Chr17:46941333 [GRCh38]
Chr17:45018699 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*412C>A single nucleotide variant Progressive myoclonic epilepsy [RCV000396609] Chr17:46939172 [GRCh38]
Chr17:45016538 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.260T>C (p.Phe87Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV001224909]|not provided [RCV000520046] Chr17:46932123 [GRCh38]
Chr17:45009489 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.199_200delinsCA (p.Arg67Gln) indel Progressive myoclonic epilepsy [RCV001307620]|not provided [RCV000592294] Chr17:46931203..46931204 [GRCh38]
Chr17:45008569..45008570 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.204-22TC[3] microsatellite not specified [RCV000599170] Chr17:46932045..46932048 [GRCh38]
Chr17:45009411..45009414 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.55A>G (p.Met19Val) single nucleotide variant Inborn genetic diseases [RCV003278940]|Progressive myoclonic epilepsy [RCV001867989]|not provided [RCV000595274] Chr17:46929545 [GRCh38]
Chr17:45006911 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.358A>G (p.Met120Val) single nucleotide variant Progressive myoclonic epilepsy [RCV000538083] Chr17:46935050 [GRCh38]
Chr17:45012416 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.72G>A (p.Thr24=) single nucleotide variant Inborn genetic diseases [RCV002379296]|Progressive myoclonic epilepsy [RCV001456329]|not provided [RCV000461587] Chr17:46929562 [GRCh38]
Chr17:45006928 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.-29C>T single nucleotide variant not specified [RCV000427292] Chr17:46923164 [GRCh38]
Chr17:45000530 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.369A>G (p.Ser123=) single nucleotide variant Inborn genetic diseases [RCV002348148]|Progressive myoclonic epilepsy [RCV001439808]|not specified [RCV000430962] Chr17:46935061 [GRCh38]
Chr17:45012427 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_004287.5(GOSR2):c.249G>T (p.Ala83=) single nucleotide variant not specified [RCV000428421] Chr17:46932112 [GRCh38]
Chr17:45009478 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.4(GOSR2):c.-34C>T single nucleotide variant not specified [RCV000425113] Chr17:46923159 [GRCh38]
Chr17:45000525 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.94+12A>G single nucleotide variant Progressive myoclonic epilepsy [RCV002059788]|not specified [RCV000442895] Chr17:46929596 [GRCh38]
Chr17:45006962 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.546C>T (p.Ile182=) single nucleotide variant Progressive myoclonic epilepsy [RCV001435757]|not specified [RCV000442952] Chr17:46938667 [GRCh38]
Chr17:45016033 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.*1823C>T single nucleotide variant GOSR2-related condition [RCV003902534]|not provided [RCV001531270]|not specified [RCV000429179] Chr17:46940583 [GRCh38]
Chr17:45017949 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_004287.5(GOSR2):c.95-17T>C single nucleotide variant Progressive myoclonic epilepsy [RCV002059611]|not specified [RCV000422258] Chr17:46931082 [GRCh38]
Chr17:45008448 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_004287.5(GOSR2):c.203+3A>G single nucleotide variant Inborn genetic diseases [RCV002313046]|Progressive myoclonic epilepsy [RCV000794248]|not specified [RCV000430511] Chr17:46931210 [GRCh38]
Chr17:45008576 [GRCh37]
Chr17:17q21.32		 benign|uncertain significance
NM_004287.5(GOSR2):c.83A>C (p.Gln28Pro) single nucleotide variant not provided [RCV000439569] Chr17:46929573 [GRCh38]
Chr17:45006939 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.29+9C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000896695]|not specified [RCV000434019] Chr17:46923230 [GRCh38]
Chr17:45000596 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.-26G>C single nucleotide variant not specified [RCV000437525] Chr17:46923167 [GRCh38]
Chr17:45000533 [GRCh37]
Chr17:17q21.32		 benign
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
NM_004287.5(GOSR2):c.68A>G (p.Glu23Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV000467105] Chr17:46929558 [GRCh38]
Chr17:45006924 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.133T>C (p.Phe45Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV000475527]|not provided [RCV003313068] Chr17:46931137 [GRCh38]
Chr17:45008503 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.77A>G (p.Asp26Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV000475719] Chr17:46929567 [GRCh38]
Chr17:45006933 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.94+16_94+17del microsatellite Progressive myoclonic epilepsy [RCV002526558]|not specified [RCV000485917] Chr17:46929598..46929599 [GRCh38]
Chr17:45006964..45006965 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) duplication GOSR2-Related Disorders [RCV003235216]|GOSR2-related condition [RCV003960021]|Inborn genetic diseases [RCV002429479]|Muscular dystrophy [RCV000509134]|Progressive myoclonic epilepsy [RCV000468851]|not provided [RCV003128943] Chr17:46923211..46923212 [GRCh38]
Chr17:45000577..45000578 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic|uncertain significance|not provided
NM_004287.5(GOSR2):c.8C>A (p.Pro3His) single nucleotide variant Progressive myoclonic epilepsy [RCV001241668]|not provided [RCV000493461] Chr17:46923200 [GRCh38]
Chr17:45000566 [GRCh37]
Chr17:17q21.32		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_004287.5(GOSR2):c.95-6G>T single nucleotide variant Progressive myoclonic epilepsy [RCV001465756] Chr17:46931093 [GRCh38]
Chr17:45008459 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.99A>G (p.Val33=) single nucleotide variant Progressive myoclonic epilepsy [RCV000539946] Chr17:46931103 [GRCh38]
Chr17:45008469 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.105C>T (p.Asn35=) single nucleotide variant Progressive myoclonic epilepsy [RCV001474237]|not specified [RCV000608229] Chr17:46931109 [GRCh38]
Chr17:45008475 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.619G>A (p.Val207Met) single nucleotide variant Progressive myoclonic epilepsy [RCV000638325] Chr17:46938740 [GRCh38]
Chr17:45016106 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.-22C>G single nucleotide variant not specified [RCV000600820] Chr17:46923171 [GRCh38]
Chr17:45000537 [GRCh37]
Chr17:17q21.32		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_004287.5(GOSR2):c.104A>G (p.Asn35Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV002536324]|not provided [RCV000658311] Chr17:46931108 [GRCh38]
Chr17:45008474 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.94+2T>G single nucleotide variant developmental delay with absent seizures [RCV000678801] Chr17:46929586 [GRCh38]
Chr17:45006952 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.337-2A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000701758] Chr17:46935027 [GRCh38]
Chr17:45012393 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_004287.5(GOSR2):c.71C>T (p.Thr24Met) single nucleotide variant Progressive myoclonic epilepsy [RCV000688411] Chr17:46929561 [GRCh38]
Chr17:45006927 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.235C>T (p.His79Tyr) single nucleotide variant Progressive myoclonic epilepsy [RCV000706976] Chr17:46932098 [GRCh38]
Chr17:45009464 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.*1795G>C single nucleotide variant not provided [RCV000711832] Chr17:46940555 [GRCh38]
Chr17:45017921 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.331A>G (p.Thr111Ala) single nucleotide variant Progressive myoclonic epilepsy [RCV000705655] Chr17:46932194 [GRCh38]
Chr17:45009560 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.213C>A (p.Asp71Glu) single nucleotide variant Inborn genetic diseases [RCV002313680]|Progressive myoclonic epilepsy [RCV001523407]|not provided [RCV001692275] Chr17:46932076 [GRCh38]
Chr17:45009442 [GRCh37]
Chr17:17q21.32		 benign|likely benign|uncertain significance
NM_004287.5(GOSR2):c.269G>A (p.Arg90Gln) single nucleotide variant Inborn genetic diseases [RCV002318073]|Progressive myoclonic epilepsy [RCV001862053] Chr17:46932132 [GRCh38]
Chr17:45009498 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.364G>A (p.Glu122Lys) single nucleotide variant Inborn genetic diseases [RCV002318134]|Progressive myoclonic epilepsy [RCV001868368]|not provided [RCV003141725] Chr17:46935056 [GRCh38]
Chr17:45012422 [GRCh37]
Chr17:17q21.32		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_004287.5(GOSR2):c.435C>T (p.His145=) single nucleotide variant Progressive myoclonic epilepsy [RCV001432406] Chr17:46935127 [GRCh38]
Chr17:45012493 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.177C>T (p.Pro59=) single nucleotide variant Progressive myoclonic epilepsy [RCV001406027] Chr17:46931181 [GRCh38]
Chr17:45008547 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.237C>T (p.His79=) single nucleotide variant Progressive myoclonic epilepsy [RCV001450567] Chr17:46932100 [GRCh38]
Chr17:45009466 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.6T>C (p.Asp2=) single nucleotide variant Inborn genetic diseases [RCV002372444]|Progressive myoclonic epilepsy [RCV001459004] Chr17:46923198 [GRCh38]
Chr17:45000564 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.579G>A (p.Met193Ile) single nucleotide variant Inborn genetic diseases [RCV002553125]|Progressive myoclonic epilepsy [RCV001045568] Chr17:46938700 [GRCh38]
Chr17:45016066 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.538C>T (p.Arg180Trp) single nucleotide variant Progressive myoclonic epilepsy [RCV001045623]|not provided [RCV001664640] Chr17:46938659 [GRCh38]
Chr17:45016025 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.64C>T (p.Leu22=) single nucleotide variant Progressive myoclonic epilepsy [RCV001416953]|not provided [RCV000865149] Chr17:46929554 [GRCh38]
Chr17:45006920 [GRCh37]
Chr17:17q21.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.302G>C (p.Arg101Pro) single nucleotide variant Inborn genetic diseases [RCV003290192] Chr17:46932165 [GRCh38]
Chr17:45009531 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.154G>A (p.Glu52Lys) single nucleotide variant Inborn genetic diseases [RCV002535950]|Progressive myoclonic epilepsy [RCV000822416] Chr17:46931158 [GRCh38]
Chr17:45008524 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.203+153C>G single nucleotide variant not provided [RCV000837761] Chr17:46931360 [GRCh38]
Chr17:45008726 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.266A>G (p.His89Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV000803440] Chr17:46932129 [GRCh38]
Chr17:45009495 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.94+263A>G single nucleotide variant not provided [RCV000843435] Chr17:46929847 [GRCh38]
Chr17:45007213 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.258C>G (p.Asn86Lys) single nucleotide variant Progressive myoclonic epilepsy [RCV000807840] Chr17:46932121 [GRCh38]
Chr17:45009487 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.47A>C (p.Gln16Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV000808372] Chr17:46929537 [GRCh38]
Chr17:45006903 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.336+45G>T single nucleotide variant not provided [RCV000829989] Chr17:46932244 [GRCh38]
Chr17:45009610 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.337-308A>G single nucleotide variant not provided [RCV000827797] Chr17:46934721 [GRCh38]
Chr17:45012087 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.128A>G (p.Gln43Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV000819708] Chr17:46931132 [GRCh38]
Chr17:45008498 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.39C>T (p.His13=) single nucleotide variant Inborn genetic diseases [RCV002372374]|Progressive myoclonic epilepsy [RCV001398750]|not provided [RCV000828421] Chr17:46929529 [GRCh38]
Chr17:45006895 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.203+169G>C single nucleotide variant not provided [RCV000841738] Chr17:46931376 [GRCh38]
Chr17:45008742 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.350C>T (p.Thr117Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV000813453] Chr17:46935042 [GRCh38]
Chr17:45012408 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.637T>C (p.Ter213Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV000808947] Chr17:46938758 [GRCh38]
Chr17:45016124 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.101A>G (p.Glu34Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV000812177] Chr17:46931105 [GRCh38]
Chr17:45008471 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.337-147T>G single nucleotide variant not provided [RCV000841223] Chr17:46934882 [GRCh38]
Chr17:45012248 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.272G>A (p.Arg91His) single nucleotide variant Progressive myoclonic epilepsy [RCV000794554] Chr17:46932135 [GRCh38]
Chr17:45009501 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.231C>T (p.Val77=) single nucleotide variant Progressive myoclonic epilepsy [RCV003746558]|not provided [RCV000834541] Chr17:46932094 [GRCh38]
Chr17:45009460 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter) single nucleotide variant Progressive myoclonic epilepsy [RCV000816740] Chr17:46931188 [GRCh38]
Chr17:45008554 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.205C>A (p.Arg69=) single nucleotide variant Progressive myoclonic epilepsy [RCV000814368] Chr17:46932068 [GRCh38]
Chr17:45009434 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.94+257C>G single nucleotide variant not provided [RCV000827796] Chr17:46929841 [GRCh38]
Chr17:45007207 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.336C>T (p.Asn112=) single nucleotide variant Inborn genetic diseases [RCV002451421]|Progressive myoclonic epilepsy [RCV001203086]|Progressive myoclonic epilepsy type 6 [RCV002071860] Chr17:46932199 [GRCh38]
Chr17:45009565 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_004287.5(GOSR2):c.10C>G (p.Leu4Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001209018] Chr17:46923202 [GRCh38]
Chr17:45000568 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.103A>G (p.Asn35Asp) single nucleotide variant Progressive myoclonic epilepsy [RCV001221710] Chr17:46931107 [GRCh38]
Chr17:45008473 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.229G>A (p.Val77Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV001201822]|not provided [RCV003130179] Chr17:46932092 [GRCh38]
Chr17:45009458 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.618_623delinsACCTAGGGGAAACAAGATGTAGTGCTATTGCCGATAACAAGTAAGATTTTCCACACTACAGCTGGGTGTTTCTCTTTTCTAAAGTGAGGCCAGTGTTATTTCCCGGGAGTGTTCAGTCTTGACCCTAGTCACTGATTTTTTCTAGTTGTTAATAGAGTGGTTGGCTTTTAAGGTTCAGAGACTGTGGCTTGGCACCTGCGCCCAGGCTTTGTGGGCCTTTGCCCCTTAGAAAGTAGCTGTAGGCAAAGATTTGTGATTTTCCAACTTTGAG (p.Val207_Val208delinsProArgGlyAsnLysMetTer) indel not provided [RCV003126975] Chr17:46938739..46938744 [GRCh38]
Chr17:45016105..45016110 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.336+45G>A single nucleotide variant not provided [RCV001596108] Chr17:46932244 [GRCh38]
Chr17:45009610 [GRCh37]
Chr17:17q21.32		 likely benign
NC_000017.11:g.46922868C>T single nucleotide variant not provided [RCV001645336] Chr17:46922868 [GRCh38]
Chr17:45000234 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.-16C>G single nucleotide variant not provided [RCV001618937] Chr17:46923177 [GRCh38]
Chr17:45000543 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.94+7A>C single nucleotide variant Progressive myoclonic epilepsy [RCV000862008]|Progressive myoclonic epilepsy type 6 [RCV001124182]|not provided [RCV001644844] Chr17:46929591 [GRCh38]
Chr17:45006957 [GRCh37]
Chr17:17q21.32		 benign|uncertain significance
NM_004287.5(GOSR2):c.340T>C (p.Ser114Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV001207457] Chr17:46935032 [GRCh38]
Chr17:45012398 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.563A>G (p.Gln188Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001217382] Chr17:46938684 [GRCh38]
Chr17:45016050 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.576T>C (p.Phe192=) single nucleotide variant Progressive myoclonic epilepsy [RCV001485217] Chr17:46938697 [GRCh38]
Chr17:45016063 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.478-130T>C single nucleotide variant not provided [RCV001540879] Chr17:46938469 [GRCh38]
Chr17:45015835 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.204-7A>G single nucleotide variant Muscular dystrophy, congenital, with or without seizures [RCV003152623]|Progressive myoclonic epilepsy [RCV003746589]|Progressive myoclonic epilepsy type 6 [RCV001563703] Chr17:46932060 [GRCh38]
Chr17:45009426 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic|likely benign
NM_004287.5(GOSR2):c.319C>T (p.Arg107Ter) single nucleotide variant Muscular dystrophy, congenital, with or without seizures [RCV003152624]|Progressive myoclonic epilepsy type 6 [RCV001563704] Chr17:46932182 [GRCh38]
Chr17:45009548 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.94+153T>G single nucleotide variant not provided [RCV001597721] Chr17:46929737 [GRCh38]
Chr17:45007103 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.29+114A>G single nucleotide variant not provided [RCV001680624] Chr17:46923335 [GRCh38]
Chr17:45000701 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.29+149C>T single nucleotide variant not provided [RCV001610231] Chr17:46923370 [GRCh38]
Chr17:45000736 [GRCh37]
Chr17:17q21.32		 benign
NC_000017.11:g.46922988C>T single nucleotide variant not provided [RCV001614602] Chr17:46922988 [GRCh38]
Chr17:45000354 [GRCh37]
Chr17:17q21.32		 benign
NM_001012511.3(GOSR2):c.-32_-31insCCAGAGCCAG duplication not provided [RCV001692820] Chr17:46923155..46923156 [GRCh38]
Chr17:45000521..45000522 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.262del (p.Gln88fs) deletion Progressive myoclonic epilepsy [RCV001065400] Chr17:46932124 [GRCh38]
Chr17:45009490 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.320G>C (p.Arg107Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV001215511] Chr17:46932183 [GRCh38]
Chr17:45009549 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.510C>G (p.Asn170Lys) single nucleotide variant Progressive myoclonic epilepsy [RCV001040373] Chr17:46938631 [GRCh38]
Chr17:45015997 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.20A>G (p.Gln7Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001218407] Chr17:46923212 [GRCh38]
Chr17:45000578 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.393G>T (p.Gln131His) single nucleotide variant Progressive myoclonic epilepsy [RCV001218533]|not provided [RCV001751415] Chr17:46935085 [GRCh38]
Chr17:45012451 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.568A>G (p.Lys190Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV001038615] Chr17:46938689 [GRCh38]
Chr17:45016055 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.634A>G (p.Thr212Ala) single nucleotide variant Progressive myoclonic epilepsy [RCV001046772] Chr17:46938755 [GRCh38]
Chr17:45016121 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.371T>C (p.Leu124Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV001236559] Chr17:46935063 [GRCh38]
Chr17:45012429 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.80A>G (p.Lys27Arg) single nucleotide variant Inborn genetic diseases [RCV002563699]|Progressive myoclonic epilepsy [RCV001228380] Chr17:46929570 [GRCh38]
Chr17:45006936 [GRCh37]
Chr17:17q21.32		 uncertain significance
NC_000017.11:g.(?_46923173)_(46940633_?)del deletion Progressive myoclonic epilepsy [RCV001031761] Chr17:45000539..45017999 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter) single nucleotide variant Muscular dystrophy, congenital, with or without seizures [RCV002472358]|Progressive myoclonic epilepsy [RCV001880060]|not provided [RCV001263455] Chr17:46929572 [GRCh38]
Chr17:45006938 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.439A>G (p.Ile147Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001313895] Chr17:46935131 [GRCh38]
Chr17:45012497 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.301C>T (p.Arg101Ter) single nucleotide variant Progressive myoclonic epilepsy [RCV001907923] Chr17:46932164 [GRCh38]
Chr17:45009530 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.136A>G (p.Ser46Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV002001950] Chr17:46931140 [GRCh38]
Chr17:45008506 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.7C>T (p.Pro3Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV001339513]|not provided [RCV003442859] Chr17:46923199 [GRCh38]
Chr17:45000565 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.619G>T (p.Val207Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV001317171] Chr17:46938740 [GRCh38]
Chr17:45016106 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.94A>G (p.Ile32Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001343068] Chr17:46929584 [GRCh38]
Chr17:45006950 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.79A>C (p.Lys27Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV001337369] Chr17:46929569 [GRCh38]
Chr17:45006935 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.140G>A (p.Arg47His) single nucleotide variant Progressive myoclonic epilepsy [RCV001337639] Chr17:46931144 [GRCh38]
Chr17:45008510 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.300G>C (p.Gln100His) single nucleotide variant Progressive myoclonic epilepsy [RCV001307435] Chr17:46932163 [GRCh38]
Chr17:45009529 [GRCh37]
Chr17:17q21.32		 uncertain significance
NC_000017.10:g.(?_45000559)_(45016126_?)dup duplication Progressive myoclonic epilepsy [RCV001345808] Chr17:45000559..45016126 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.1A>G (p.Met1Val) single nucleotide variant Inborn genetic diseases [RCV002420834]|Progressive myoclonic epilepsy [RCV001371323]|not provided [RCV001537382] Chr17:46923193 [GRCh38]
Chr17:45000559 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic|uncertain significance
NM_004287.5(GOSR2):c.167G>T (p.Ser56Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV001363631] Chr17:46931171 [GRCh38]
Chr17:45008537 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.122T>C (p.Ile41Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV001299403] Chr17:46931126 [GRCh38]
Chr17:45008492 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.14T>A (p.Phe5Tyr) single nucleotide variant Progressive myoclonic epilepsy [RCV001366283] Chr17:46923206 [GRCh38]
Chr17:45000572 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.639A>G (p.Ter213Trp) single nucleotide variant Progressive myoclonic epilepsy [RCV001366490] Chr17:46938760 [GRCh38]
Chr17:45016126 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.268C>T (p.Arg90Trp) single nucleotide variant Progressive myoclonic epilepsy [RCV001296001] Chr17:46932131 [GRCh38]
Chr17:45009497 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.428A>T (p.Asp143Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001309629] Chr17:46935120 [GRCh38]
Chr17:45012486 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.3G>A (p.Met1Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV001366953] Chr17:46923195 [GRCh38]
Chr17:45000561 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.251T>C (p.Leu84Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV001296293] Chr17:46932114 [GRCh38]
Chr17:45009480 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.552G>T (p.Lys184Asn) single nucleotide variant Progressive myoclonic epilepsy [RCV001365429] Chr17:46938673 [GRCh38]
Chr17:45016039 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.95-7T>C single nucleotide variant Progressive myoclonic epilepsy [RCV001435773] Chr17:46931092 [GRCh38]
Chr17:45008458 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.95-7T>G single nucleotide variant Progressive myoclonic epilepsy [RCV001407168] Chr17:46931092 [GRCh38]
Chr17:45008458 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.89_90del (p.Val30fs) microsatellite Progressive myoclonic epilepsy [RCV001386521] Chr17:46929577..46929578 [GRCh38]
Chr17:45006943..45006944 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.631C>T (p.Leu211=) single nucleotide variant Progressive myoclonic epilepsy [RCV001417665] Chr17:46938752 [GRCh38]
Chr17:45016118 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.519C>T (p.Gly173=) single nucleotide variant Progressive myoclonic epilepsy [RCV001479025] Chr17:46938640 [GRCh38]
Chr17:45016006 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.547G>A (p.Glu183Lys) single nucleotide variant Inborn genetic diseases [RCV002343772]|Progressive myoclonic epilepsy [RCV002592490]|not provided [RCV001592117] Chr17:46938668 [GRCh38]
Chr17:45016034 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.30-10C>T single nucleotide variant Progressive myoclonic epilepsy [RCV001481654] Chr17:46929510 [GRCh38]
Chr17:45006876 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.249G>A (p.Ala83=) single nucleotide variant Inborn genetic diseases [RCV002432393]|Progressive myoclonic epilepsy [RCV001495899] Chr17:46932112 [GRCh38]
Chr17:45009478 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.186A>G (p.Lys62=) single nucleotide variant Progressive myoclonic epilepsy [RCV001454529] Chr17:46931190 [GRCh38]
Chr17:45008556 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.9C>G (p.Pro3=) single nucleotide variant Progressive myoclonic epilepsy [RCV001423621] Chr17:46923201 [GRCh38]
Chr17:45000567 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.204-1G>T single nucleotide variant Progressive myoclonic epilepsy [RCV001377171] Chr17:46932066 [GRCh38]
Chr17:45009432 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_004287.5(GOSR2):c.463A>G (p.Arg155Gly) single nucleotide variant not provided [RCV001755061] Chr17:46935155 [GRCh38]
Chr17:45012521 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.587G>C (p.Gly196Ala) single nucleotide variant not provided [RCV001763313] Chr17:46938708 [GRCh38]
Chr17:45016074 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.425dup (p.Leu142fs) duplication Progressive myoclonic epilepsy type 6 [RCV001783394] Chr17:46935113..46935114 [GRCh38]
Chr17:45012479..45012480 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.53G>C (p.Cys18Ser) single nucleotide variant not provided [RCV001764007] Chr17:46929543 [GRCh38]
Chr17:45006909 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.2T>G (p.Met1Arg) single nucleotide variant Muscular dystrophy, congenital, with or without seizures [RCV002478011] Chr17:46923194 [GRCh38]
Chr17:45000560 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_004287.5(GOSR2):c.247G>A (p.Ala83Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV002544120]|not provided [RCV001774309] Chr17:46932110 [GRCh38]
Chr17:45009476 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.448G>A (p.Gly150Arg) single nucleotide variant not provided [RCV001758230] Chr17:46935140 [GRCh38]
Chr17:45012506 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.283G>A (p.Glu95Lys) single nucleotide variant Progressive myoclonic epilepsy [RCV002008708] Chr17:46932146 [GRCh38]
Chr17:45009512 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.7C>G (p.Pro3Ala) single nucleotide variant Progressive myoclonic epilepsy [RCV001929908] Chr17:46923199 [GRCh38]
Chr17:45000565 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.298C>A (p.Gln100Lys) single nucleotide variant Progressive myoclonic epilepsy [RCV002009228] Chr17:46932161 [GRCh38]
Chr17:45009527 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.285G>C (p.Glu95Asp) single nucleotide variant Progressive myoclonic epilepsy [RCV001929989] Chr17:46932148 [GRCh38]
Chr17:45009514 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.4G>A (p.Asp2Asn) single nucleotide variant Progressive myoclonic epilepsy [RCV001988580] Chr17:46923196 [GRCh38]
Chr17:45000562 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.226G>C (p.Asp76His) single nucleotide variant Progressive myoclonic epilepsy [RCV002006284] Chr17:46932089 [GRCh38]
Chr17:45009455 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.139C>T (p.Arg47Cys) single nucleotide variant Progressive myoclonic epilepsy [RCV001892583] Chr17:46931143 [GRCh38]
Chr17:45008509 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.96A>G (p.Ile32Met) single nucleotide variant Progressive myoclonic epilepsy [RCV001890594] Chr17:46931100 [GRCh38]
Chr17:45008466 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.477+20A>T single nucleotide variant Progressive myoclonic epilepsy [RCV001895321] Chr17:46935189 [GRCh38]
Chr17:45012555 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_004287.5(GOSR2):c.210del (p.Asp71fs) deletion Progressive myoclonic epilepsy [RCV001908913] Chr17:46932072 [GRCh38]
Chr17:45009438 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.170A>G (p.Lys57Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001965047] Chr17:46931174 [GRCh38]
Chr17:45008540 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.477+6G>T single nucleotide variant Progressive myoclonic epilepsy [RCV001894407] Chr17:46935175 [GRCh38]
Chr17:45012541 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.161del (p.Leu54fs) deletion Progressive myoclonic epilepsy [RCV002007368] Chr17:46931162 [GRCh38]
Chr17:45008528 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.94+5G>A single nucleotide variant Progressive myoclonic epilepsy [RCV001894636] Chr17:46929589 [GRCh38]
Chr17:45006955 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.278C>T (p.Ala93Val) single nucleotide variant Inborn genetic diseases [RCV002553662]|Progressive myoclonic epilepsy [RCV001891377] Chr17:46932141 [GRCh38]
Chr17:45009507 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.539G>A (p.Arg180Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV002038831] Chr17:46938660 [GRCh38]
Chr17:45016026 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.432_449del (p.His145_Gly150del) deletion Progressive myoclonic epilepsy [RCV001925767] Chr17:46935113..46935130 [GRCh38]
Chr17:45012479..45012496 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.176C>T (p.Pro59Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV001961838] Chr17:46931180 [GRCh38]
Chr17:45008546 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.553C>T (p.Arg185Trp) single nucleotide variant Progressive myoclonic epilepsy [RCV001976582] Chr17:46938674 [GRCh38]
Chr17:45016040 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.31C>G (p.Gln11Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV002029912] Chr17:46929521 [GRCh38]
Chr17:45006887 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.611T>G (p.Met204Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001903753] Chr17:46938732 [GRCh38]
Chr17:45016098 [GRCh37]
Chr17:17q21.32		 uncertain significance
NC_000017.10:g.(?_44845686)_(45016126_?)del deletion Progressive myoclonic epilepsy [RCV001972866] Chr17:44845686..45016126 [GRCh37]
Chr17:17q21.31-21.32		 pathogenic
NM_004287.5(GOSR2):c.446A>G (p.Asp149Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV002029728] Chr17:46935138 [GRCh38]
Chr17:45012504 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.56T>C (p.Met19Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV001956894] Chr17:46929546 [GRCh38]
Chr17:45006912 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.578T>C (p.Met193Thr) single nucleotide variant Inborn genetic diseases [RCV002352662]|Progressive myoclonic epilepsy [RCV001961076] Chr17:46938699 [GRCh38]
Chr17:45016065 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.15C>G (p.Phe5Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV001955459] Chr17:46923207 [GRCh38]
Chr17:45000573 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.206G>C (p.Arg69Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV001959258] Chr17:46932069 [GRCh38]
Chr17:45009435 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.95-1G>C single nucleotide variant Progressive myoclonic epilepsy [RCV001959364] Chr17:46931098 [GRCh38]
Chr17:45008464 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_004287.5(GOSR2):c.28A>G (p.Lys10Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV002018125] Chr17:46923220 [GRCh38]
Chr17:45000586 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.451C>G (p.Leu151Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001885477] Chr17:46935143 [GRCh38]
Chr17:45012509 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.16C>T (p.Gln6Ter) single nucleotide variant Progressive myoclonic epilepsy [RCV001940185] Chr17:46923208 [GRCh38]
Chr17:45000574 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.506C>G (p.Ala169Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV001879116] Chr17:46938627 [GRCh38]
Chr17:45015993 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.271C>T (p.Arg91Cys) single nucleotide variant Progressive myoclonic epilepsy [RCV001958007] Chr17:46932134 [GRCh38]
Chr17:45009500 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.337-6dup duplication Progressive myoclonic epilepsy [RCV002165182] Chr17:46935020..46935021 [GRCh38]
Chr17:45012386..45012387 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.30-7T>A single nucleotide variant Progressive myoclonic epilepsy [RCV002087358] Chr17:46929513 [GRCh38]
Chr17:45006879 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.478-14C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002125457] Chr17:46938585 [GRCh38]
Chr17:45015951 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.94+15G>A single nucleotide variant Progressive myoclonic epilepsy [RCV002107824] Chr17:46929599 [GRCh38]
Chr17:45006965 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.477+19del deletion Progressive myoclonic epilepsy [RCV002106717] Chr17:46935184 [GRCh38]
Chr17:45012550 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.30-15C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002085218] Chr17:46929505 [GRCh38]
Chr17:45006871 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.336+14G>A single nucleotide variant Progressive myoclonic epilepsy [RCV002091605] Chr17:46932213 [GRCh38]
Chr17:45009579 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.29+15G>T single nucleotide variant Progressive myoclonic epilepsy [RCV002093215] Chr17:46923236 [GRCh38]
Chr17:45000602 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.30-14T>C single nucleotide variant Progressive myoclonic epilepsy [RCV002188779] Chr17:46929506 [GRCh38]
Chr17:45006872 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.375G>A (p.Gln125=) single nucleotide variant Progressive myoclonic epilepsy [RCV002117107] Chr17:46935067 [GRCh38]
Chr17:45012433 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.336+17G>T single nucleotide variant Progressive myoclonic epilepsy [RCV002174633] Chr17:46932216 [GRCh38]
Chr17:45009582 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.528C>T (p.Asn176=) single nucleotide variant Progressive myoclonic epilepsy [RCV002159538] Chr17:46938649 [GRCh38]
Chr17:45016015 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.30-8T>A single nucleotide variant Progressive myoclonic epilepsy [RCV002218735] Chr17:46929512 [GRCh38]
Chr17:45006878 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.336+13C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002122493] Chr17:46932212 [GRCh38]
Chr17:45009578 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.381C>T (p.Asn127=) single nucleotide variant Progressive myoclonic epilepsy [RCV002183047] Chr17:46935073 [GRCh38]
Chr17:45012439 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.525C>T (p.Ser175=) single nucleotide variant Progressive myoclonic epilepsy [RCV002163180] Chr17:46938646 [GRCh38]
Chr17:45016012 [GRCh37]
Chr17:17q21.32		 likely benign
NC_000017.10:g.(?_44845686)_(45016126_?)dup duplication Progressive myoclonic epilepsy [RCV003113420] Chr17:44845686..45016126 [GRCh37]
Chr17:17q21.31-21.32		 uncertain significance
GRCh37/hg19 17q21.32(chr17:44949883-46507482) copy number gain PNPO-related disorders [RCV003236737] Chr17:44949883..46507482 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_004287.5(GOSR2):c.627G>C (p.Gln209His) single nucleotide variant not provided [RCV003154441] Chr17:46938748 [GRCh38]
Chr17:45016114 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.406G>A (p.Gly136Ser) single nucleotide variant Inborn genetic diseases [RCV002321454]|Progressive myoclonic epilepsy [RCV003102515] Chr17:46935098 [GRCh38]
Chr17:45012464 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.319C>G (p.Arg107Gly) single nucleotide variant Inborn genetic diseases [RCV002322936] Chr17:46932182 [GRCh38]
Chr17:45009548 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.536T>C (p.Met179Thr) single nucleotide variant Inborn genetic diseases [RCV002347060] Chr17:46938657 [GRCh38]
Chr17:45016023 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.374A>G (p.Gln125Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV002302942] Chr17:46935066 [GRCh38]
Chr17:45012432 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.341_342del (p.Asp113_Ser114insTer) microsatellite Inborn genetic diseases [RCV002731716] Chr17:46935031..46935032 [GRCh38]
Chr17:45012397..45012398 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.50C>T (p.Ser17Phe) single nucleotide variant Progressive myoclonic epilepsy [RCV002816094] Chr17:46929540 [GRCh38]
Chr17:45006906 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.3G>T (p.Met1Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV003015644] Chr17:46923195 [GRCh38]
Chr17:45000561 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.524C>T (p.Ser175Phe) single nucleotide variant Inborn genetic diseases [RCV002860121] Chr17:46938645 [GRCh38]
Chr17:45016011 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.390C>T (p.Leu130=) single nucleotide variant Progressive myoclonic epilepsy [RCV002776326] Chr17:46935082 [GRCh38]
Chr17:45012448 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.204-8A>C single nucleotide variant Progressive myoclonic epilepsy [RCV002862917] Chr17:46932059 [GRCh38]
Chr17:45009425 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.30-12T>C single nucleotide variant Progressive myoclonic epilepsy [RCV003076418] Chr17:46929508 [GRCh38]
Chr17:45006874 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.383C>A (p.Ser128Tyr) single nucleotide variant Progressive myoclonic epilepsy [RCV002996172] Chr17:46935075 [GRCh38]
Chr17:45012441 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter) single nucleotide variant Progressive myoclonic epilepsy [RCV003055173] Chr17:46932125 [GRCh38]
Chr17:45009491 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.300G>A (p.Gln100=) single nucleotide variant Progressive myoclonic epilepsy [RCV002889837] Chr17:46932163 [GRCh38]
Chr17:45009529 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.354A>G (p.Ile118Met) single nucleotide variant Progressive myoclonic epilepsy [RCV002622221] Chr17:46935046 [GRCh38]
Chr17:45012412 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.204-9C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002824952] Chr17:46932058 [GRCh38]
Chr17:45009424 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.203+8C>G single nucleotide variant Progressive myoclonic epilepsy [RCV003078260] Chr17:46931215 [GRCh38]
Chr17:45008581 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.29+13C>A single nucleotide variant Progressive myoclonic epilepsy [RCV002570890] Chr17:46923234 [GRCh38]
Chr17:45000600 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.94+12A>T single nucleotide variant Progressive myoclonic epilepsy [RCV002795653] Chr17:46929596 [GRCh38]
Chr17:45006962 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.106G>A (p.Glu36Lys) single nucleotide variant Progressive myoclonic epilepsy [RCV002948904] Chr17:46931110 [GRCh38]
Chr17:45008476 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.478G>C (p.Gly160Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV002597312] Chr17:46938599 [GRCh38]
Chr17:45015965 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.524C>A (p.Ser175Tyr) single nucleotide variant Progressive myoclonic epilepsy [RCV002741716] Chr17:46938645 [GRCh38]
Chr17:45016011 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.121A>G (p.Ile41Val) single nucleotide variant Progressive myoclonic epilepsy [RCV002700616]|not provided [RCV003134480] Chr17:46931125 [GRCh38]
Chr17:45008491 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.29+17G>A single nucleotide variant Progressive myoclonic epilepsy [RCV002745404] Chr17:46923238 [GRCh38]
Chr17:45000604 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.169A>G (p.Lys57Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV002801097] Chr17:46931173 [GRCh38]
Chr17:45008539 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.162G>T (p.Leu54Phe) single nucleotide variant Progressive myoclonic epilepsy [RCV002918161] Chr17:46931166 [GRCh38]
Chr17:45008532 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.380A>G (p.Asn127Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV002801979] Chr17:46935072 [GRCh38]
Chr17:45012438 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.15C>T (p.Phe5=) single nucleotide variant Progressive myoclonic epilepsy [RCV002917354] Chr17:46923207 [GRCh38]
Chr17:45000573 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.478-7_478-6insAGAACAGAAG microsatellite Progressive myoclonic epilepsy [RCV002852904] Chr17:46938591..46938592 [GRCh38]
Chr17:45015957..45015958 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.478-6C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002875740] Chr17:46938593 [GRCh38]
Chr17:45015959 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.437A>G (p.Asn146Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV002853276] Chr17:46935129 [GRCh38]
Chr17:45012495 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.122T>G (p.Ile41Arg) single nucleotide variant not provided [RCV002508696] Chr17:46931126 [GRCh38]
Chr17:45008492 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.397G>A (p.Val133Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV002931827] Chr17:46935089 [GRCh38]
Chr17:45012455 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.92A>G (p.His31Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV003047407] Chr17:46929582 [GRCh38]
Chr17:45006948 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.10C>T (p.Leu4=) single nucleotide variant Progressive myoclonic epilepsy [RCV002650335] Chr17:46923202 [GRCh38]
Chr17:45000568 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.6T>A (p.Asp2Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV003047612] Chr17:46923198 [GRCh38]
Chr17:45000564 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.596T>C (p.Leu199Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV002746620] Chr17:46938717 [GRCh38]
Chr17:45016083 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.30-20C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002676071] Chr17:46929500 [GRCh38]
Chr17:45006866 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.494T>C (p.Ile165Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV002654791] Chr17:46938615 [GRCh38]
Chr17:45015981 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.460_461dup (p.Gln154fs) duplication Progressive myoclonic epilepsy [RCV003051682] Chr17:46935151..46935152 [GRCh38]
Chr17:45012517..45012518 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.302G>A (p.Arg101Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV002606642] Chr17:46932165 [GRCh38]
Chr17:45009531 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.8C>T (p.Pro3Leu) single nucleotide variant Inborn genetic diseases [RCV003209533] Chr17:46923200 [GRCh38]
Chr17:45000566 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.176C>A (p.Pro59His) single nucleotide variant Inborn genetic diseases [RCV003217464] Chr17:46931180 [GRCh38]
Chr17:45008546 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.1A>C (p.Met1Leu) single nucleotide variant Hearing loss, autosomal recessive [RCV003226606]|not provided [RCV003882740] Chr17:46923193 [GRCh38]
Chr17:45000559 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_004287.5(GOSR2):c.53G>T (p.Cys18Phe) single nucleotide variant Inborn genetic diseases [RCV003282841] Chr17:46929543 [GRCh38]
Chr17:45006909 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.5A>C (p.Asp2Ala) single nucleotide variant not provided [RCV003135427] Chr17:46923197 [GRCh38]
Chr17:45000563 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_001321133.2(GOSR2):c.750A>G (p.Leu250=) single nucleotide variant not provided [RCV003334202] Chr17:46966700 [GRCh38]
Chr17:45044066 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.5A>G (p.Asp2Gly) single nucleotide variant Inborn genetic diseases [RCV003346036] Chr17:46923197 [GRCh38]
Chr17:45000563 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_004287.5(GOSR2):c.609C>T (p.Val203=) single nucleotide variant Progressive myoclonic epilepsy [RCV003817026] Chr17:46938730 [GRCh38]
Chr17:45016096 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.186_187del (p.Arg63fs) deletion Progressive myoclonic epilepsy [RCV003583787] Chr17:46931188..46931189 [GRCh38]
Chr17:45008554..45008555 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.480G>T (p.Gly160=) single nucleotide variant Progressive myoclonic epilepsy [RCV003583793] Chr17:46938601 [GRCh38]
Chr17:45015967 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.336+20A>C single nucleotide variant Progressive myoclonic epilepsy [RCV003855718] Chr17:46932219 [GRCh38]
Chr17:45009585 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.30-10_30-7del deletion Progressive myoclonic epilepsy [RCV003854485] Chr17:46929507..46929510 [GRCh38]
Chr17:45006873..45006876 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.336+7C>A single nucleotide variant Progressive myoclonic epilepsy [RCV003850709] Chr17:46932206 [GRCh38]
Chr17:45009572 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.30-4A>G single nucleotide variant Progressive myoclonic epilepsy [RCV003833272] Chr17:46929516 [GRCh38]
Chr17:45006882 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.618C>T (p.Leu206=) single nucleotide variant Progressive myoclonic epilepsy [RCV003823263] Chr17:46938739 [GRCh38]
Chr17:45016105 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.221dup (p.Tyr75fs) duplication Progressive myoclonic epilepsy [RCV003746851] Chr17:46932081..46932082 [GRCh38]
Chr17:45009447..45009448 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_004287.5(GOSR2):c.204-17C>G single nucleotide variant Progressive myoclonic epilepsy [RCV003746340] Chr17:46932050 [GRCh38]
Chr17:45009416 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.203+17G>T single nucleotide variant Progressive myoclonic epilepsy [RCV003747457] Chr17:46931224 [GRCh38]
Chr17:45008590 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.219A>G (p.Leu73=) single nucleotide variant Progressive myoclonic epilepsy [RCV003746911] Chr17:46932082 [GRCh38]
Chr17:45009448 [GRCh37]
Chr17:17q21.32		 likely benign
NM_004287.5(GOSR2):c.337-13_337-12del microsatellite Progressive myoclonic epilepsy [RCV003861306] Chr17:46935013..46935014 [GRCh38]
Chr17:45012379..45012380 [GRCh37]
Chr17:17q21.32		 likely benign
NM_001321133.2(GOSR2):c.657C>T (p.Ser219=) single nucleotide variant GOSR2-related condition [RCV003914646] Chr17:46966607 [GRCh38]
Chr17:45043973 [GRCh37]
Chr17:17q21.32		 benign
NM_004287.5(GOSR2):c.477+27G>A single nucleotide variant GOSR2-related condition [RCV003909627] Chr17:46935196 [GRCh38]
Chr17:45012562 [GRCh37]
Chr17:17q21.32		 likely benign
NM_001321133.2(GOSR2):c.584-4G>T single nucleotide variant GOSR2-related condition [RCV003954341] Chr17:46966530 [GRCh38]
Chr17:45043896 [GRCh37]
Chr17:17q21.32		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2576
Count of miRNA genes:1077
Interacting mature miRNAs:1316
Transcripts:ENST00000225567, ENST00000393456, ENST00000415811, ENST00000439730, ENST00000570879, ENST00000571048, ENST00000571658, ENST00000572403, ENST00000573224, ENST00000575949, ENST00000576910
Prediction methods:Microtar, 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.

Markers in Region
RH70724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,017,024 - 45,017,179UniSTSGRCh37
Build 361742,372,023 - 42,372,178RGDNCBI36
Celera1741,466,537 - 41,466,692RGD
Cytogenetic Map17q21UniSTS
HuRef1740,395,217 - 40,395,372UniSTS
GeneMap99-GB4 RH Map17333.1UniSTS
NCBI RH Map17596.6UniSTS
STS-W44434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,016,254 - 45,016,511UniSTSGRCh37
Build 361742,371,253 - 42,371,510RGDNCBI36
Celera1741,465,767 - 41,466,024RGD
Cytogenetic Map17q21UniSTS
HuRef1740,394,447 - 40,394,704UniSTS
GeneMap99-GB4 RH Map17333.1UniSTS
NCBI RH Map17596.6UniSTS
WI-15652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,018,585 - 45,018,711UniSTSGRCh37
Build 361742,373,584 - 42,373,710RGDNCBI36
Celera1741,468,098 - 41,468,224RGD
Cytogenetic Map17q21UniSTS
HuRef1740,396,778 - 40,396,904UniSTS
GeneMap99-GB4 RH Map17330.66UniSTS
Whitehead-RH Map17361.1UniSTS
NCBI RH Map17589.7UniSTS
SHGC-63525  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q21UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1382 1195 1122 183 1064 122 1935 686 1318 269 1263 1397 74 636 1287 2
Low 1050 1784 601 439 879 342 2420 1507 2390 149 185 211 96 568 1501 2
Below cutoff 5 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001012511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001353116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_054022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA775225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF007548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF229796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI129639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW205003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG718145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM353858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM846811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD048223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000225567   ⟹   ENSP00000225567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,120 - 46,941,143 (+)Ensembl
RefSeq Acc Id: ENST00000393456   ⟹   ENSP00000377101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,188 - 46,938,997 (+)Ensembl
RefSeq Acc Id: ENST00000415811   ⟹   ENSP00000394559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,128 - 46,936,801 (+)Ensembl
RefSeq Acc Id: ENST00000570879   ⟹   ENSP00000458154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,172 - 46,938,602 (+)Ensembl
RefSeq Acc Id: ENST00000571048   ⟹   ENSP00000492595
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,166 - 46,932,242 (+)Ensembl
RefSeq Acc Id: ENST00000571658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,128 - 46,933,245 (+)Ensembl
RefSeq Acc Id: ENST00000572403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,172 - 46,963,757 (+)Ensembl
RefSeq Acc Id: ENST00000573224   ⟹   ENSP00000461784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,128 - 46,967,000 (+)Ensembl
RefSeq Acc Id: ENST00000575949   ⟹   ENSP00000458911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,153 - 46,933,267 (+)Ensembl
RefSeq Acc Id: ENST00000576910   ⟹   ENSP00000461673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,128 - 46,939,953 (+)Ensembl
RefSeq Acc Id: ENST00000623037   ⟹   ENSP00000492669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,120 - 46,939,806 (+)Ensembl
RefSeq Acc Id: ENST00000638189   ⟹   ENSP00000491785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,160 - 46,966,954 (+)Ensembl
RefSeq Acc Id: ENST00000638216   ⟹   ENSP00000491961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,146 - 46,941,600 (+)Ensembl
RefSeq Acc Id: ENST00000638219   ⟹   ENSP00000491399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,162 - 46,968,929 (+)Ensembl
RefSeq Acc Id: ENST00000638374   ⟹   ENSP00000492139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,164 - 46,940,779 (+)Ensembl
RefSeq Acc Id: ENST00000638468   ⟹   ENSP00000491749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,931,111 - 46,966,947 (+)Ensembl
RefSeq Acc Id: ENST00000638579   ⟹   ENSP00000491266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,158 - 46,952,820 (+)Ensembl
RefSeq Acc Id: ENST00000638634   ⟹   ENSP00000491946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,117 - 46,941,635 (+)Ensembl
RefSeq Acc Id: ENST00000638697   ⟹   ENSP00000492360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,160 - 46,941,691 (+)Ensembl
RefSeq Acc Id: ENST00000638838   ⟹   ENSP00000492524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,139 - 46,941,336 (+)Ensembl
RefSeq Acc Id: ENST00000638892   ⟹   ENSP00000492607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,138 - 46,942,019 (+)Ensembl
RefSeq Acc Id: ENST00000639031   ⟹   ENSP00000491283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,198 - 46,935,586 (+)Ensembl
RefSeq Acc Id: ENST00000639066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,160 - 46,964,965 (+)Ensembl
RefSeq Acc Id: ENST00000639080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,931,948 - 46,935,534 (+)Ensembl
RefSeq Acc Id: ENST00000639199   ⟹   ENSP00000491396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,130 - 46,966,960 (+)Ensembl
RefSeq Acc Id: ENST00000639287   ⟹   ENSP00000492278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,166 - 46,936,621 (+)Ensembl
RefSeq Acc Id: ENST00000639365   ⟹   ENSP00000491253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,138 - 46,966,783 (+)Ensembl
RefSeq Acc Id: ENST00000639388   ⟹   ENSP00000492544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,163 - 46,966,818 (+)Ensembl
RefSeq Acc Id: ENST00000639713   ⟹   ENSP00000491100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,931,134 - 46,952,830 (+)Ensembl
RefSeq Acc Id: ENST00000639985   ⟹   ENSP00000492396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,128 - 46,966,948 (+)Ensembl
RefSeq Acc Id: ENST00000640007   ⟹   ENSP00000491709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,161 - 46,933,262 (+)Ensembl
RefSeq Acc Id: ENST00000640051   ⟹   ENSP00000492751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,160 - 46,942,020 (+)Ensembl
RefSeq Acc Id: ENST00000640068   ⟹   ENSP00000491682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,172 - 46,940,933 (+)Ensembl
RefSeq Acc Id: ENST00000640138   ⟹   ENSP00000492565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,166 - 46,941,615 (+)Ensembl
RefSeq Acc Id: ENST00000640269   ⟹   ENSP00000492146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,160 - 46,936,801 (+)Ensembl
RefSeq Acc Id: ENST00000640358   ⟹   ENSP00000491135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,117 - 46,966,982 (+)Ensembl
RefSeq Acc Id: ENST00000640443   ⟹   ENSP00000492548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,160 - 46,941,606 (+)Ensembl
RefSeq Acc Id: ENST00000640495   ⟹   ENSP00000491859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,163 - 46,941,728 (+)Ensembl
RefSeq Acc Id: ENST00000640608   ⟹   ENSP00000491979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,075 - 46,942,015 (+)Ensembl
RefSeq Acc Id: ENST00000640621   ⟹   ENSP00000492830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,138 - 46,937,696 (+)Ensembl
RefSeq Acc Id: ENST00000640709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,138 - 46,933,628 (+)Ensembl
RefSeq Acc Id: ENST00000640711   ⟹   ENSP00000491361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,161 - 46,941,356 (+)Ensembl
RefSeq Acc Id: ENST00000640723   ⟹   ENSP00000492206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,929,552 - 46,975,524 (+)Ensembl
RefSeq Acc Id: ENST00000640792   ⟹   ENSP00000492736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,081 - 46,966,947 (+)Ensembl
RefSeq Acc Id: ENST00000640806   ⟹   ENSP00000491432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,923,160 - 46,935,154 (+)Ensembl
RefSeq Acc Id: ENST00000640866   ⟹   ENSP00000491863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,938,605 - 46,966,851 (+)Ensembl
RefSeq Acc Id: ENST00000640871   ⟹   ENSP00000492275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,932,182 - 46,939,366 (+)Ensembl
RefSeq Acc Id: NM_001012511   ⟹   NP_001012529
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,936,822 (+)NCBI
GRCh371745,000,486 - 45,044,366 (+)NCBI
Build 361742,355,485 - 42,369,204 (+)NCBI Archive
Celera1741,450,000 - 41,468,246 (+)RGD
HuRef1740,378,679 - 40,396,926 (+)RGD
CHM1_11745,064,610 - 45,078,330 (+)NCBI
T2T-CHM13v2.01747,784,606 - 47,798,266 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321133   ⟹   NP_001308062
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,967,000 (+)NCBI
CHM1_11745,064,610 - 45,108,489 (+)NCBI
T2T-CHM13v2.01747,784,606 - 47,828,429 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321134   ⟹   NP_001308063
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,942,020 (+)NCBI
CHM1_11745,064,610 - 45,083,511 (+)NCBI
T2T-CHM13v2.01747,784,606 - 47,803,464 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330252   ⟹   NP_001317181
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,942,020 (+)NCBI
T2T-CHM13v2.01747,784,606 - 47,803,464 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353114   ⟹   NP_001340043
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,942,020 (+)NCBI
T2T-CHM13v2.01747,784,606 - 47,803,464 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353115   ⟹   NP_001340044
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,942,020 (+)NCBI
T2T-CHM13v2.01747,784,606 - 47,803,464 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001353116   ⟹   NP_001340045
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,942,020 (+)NCBI
T2T-CHM13v2.01747,784,606 - 47,803,464 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363851   ⟹   NP_001350780
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,942,020 (+)NCBI
T2T-CHM13v2.01747,784,606 - 47,803,464 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004287   ⟹   NP_004278
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,942,020 (+)NCBI
GRCh371745,000,486 - 45,044,366 (+)NCBI
Build 361742,355,485 - 42,373,732 (+)NCBI Archive
Celera1741,450,000 - 41,468,246 (+)RGD
HuRef1740,378,679 - 40,396,926 (+)RGD
CHM1_11745,064,610 - 45,083,511 (+)NCBI
T2T-CHM13v2.01747,784,606 - 47,803,464 (+)NCBI
Sequence:
RefSeq Acc Id: NM_054022   ⟹   NP_473363
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,942,020 (+)NCBI
GRCh371745,000,486 - 45,044,366 (+)NCBI
Build 361742,355,485 - 42,373,732 (+)NCBI Archive
Celera1741,450,000 - 41,468,246 (+)RGD
HuRef1740,378,679 - 40,396,926 (+)RGD
CHM1_11745,064,610 - 45,083,511 (+)NCBI
T2T-CHM13v2.01747,784,606 - 47,803,464 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148349
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,967,000 (+)NCBI
T2T-CHM13v2.01747,784,606 - 47,828,429 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148350
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,967,000 (+)NCBI
T2T-CHM13v2.01747,784,606 - 47,828,429 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148351
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,967,000 (+)NCBI
T2T-CHM13v2.01747,784,606 - 47,828,429 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722190   ⟹   XP_006722253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,961,013 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525501   ⟹   XP_011523803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,952,830 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525502   ⟹   XP_011523804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,952,830 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025378   ⟹   XP_016880867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,967,000 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025383   ⟹   XP_016880872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,975,890 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025386   ⟹   XP_016880875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,967,000 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025387   ⟹   XP_016880876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,967,000 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025389   ⟹   XP_016880878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,952,711 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025392   ⟹   XP_016880881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,964,652 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047437112   ⟹   XP_047293068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,952,711 (+)NCBI
RefSeq Acc Id: XM_047437113   ⟹   XP_047293069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,952,711 (+)NCBI
RefSeq Acc Id: XM_047437114   ⟹   XP_047293070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,952,711 (+)NCBI
RefSeq Acc Id: XM_047437115   ⟹   XP_047293071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,952,711 (+)NCBI
RefSeq Acc Id: XM_047437116   ⟹   XP_047293072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,971,381 (+)NCBI
RefSeq Acc Id: XM_047437117   ⟹   XP_047293073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,952,711 (+)NCBI
RefSeq Acc Id: XM_047437118   ⟹   XP_047293074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,952,711 (+)NCBI
RefSeq Acc Id: XM_047437119   ⟹   XP_047293075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,964,652 (+)NCBI
RefSeq Acc Id: XM_047437120   ⟹   XP_047293076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,956,326 (+)NCBI
RefSeq Acc Id: XM_054317890   ⟹   XP_054173865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,810,351 (+)NCBI
RefSeq Acc Id: XM_054317891   ⟹   XP_054173866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,810,354 (+)NCBI
RefSeq Acc Id: XM_054317892   ⟹   XP_054173867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,810,353 (+)NCBI
RefSeq Acc Id: XM_054317893   ⟹   XP_054173868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,810,355 (+)NCBI
RefSeq Acc Id: XM_054317894   ⟹   XP_054173869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,828,429 (+)NCBI
RefSeq Acc Id: XM_054317895   ⟹   XP_054173870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,832,809 (+)NCBI
RefSeq Acc Id: XM_054317896   ⟹   XP_054173871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,837,321 (+)NCBI
RefSeq Acc Id: XM_054317897   ⟹   XP_054173872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,810,358 (+)NCBI
RefSeq Acc Id: XM_054317898   ⟹   XP_054173873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,810,361 (+)NCBI
RefSeq Acc Id: XM_054317899   ⟹   XP_054173874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,825,109 (+)NCBI
RefSeq Acc Id: XM_054317900   ⟹   XP_054173875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,828,429 (+)NCBI
RefSeq Acc Id: XM_054317901   ⟹   XP_054173876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,828,429 (+)NCBI
RefSeq Acc Id: XM_054317902   ⟹   XP_054173877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,826,071 (+)NCBI
RefSeq Acc Id: XM_054317903   ⟹   XP_054173878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,810,346 (+)NCBI
RefSeq Acc Id: XM_054317904   ⟹   XP_054173879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,814,260 (+)NCBI
RefSeq Acc Id: XM_054317905   ⟹   XP_054173880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,814,260 (+)NCBI
RefSeq Acc Id: XM_054317906   ⟹   XP_054173881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,826,071 (+)NCBI
RefSeq Acc Id: XM_054317907   ⟹   XP_054173882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,817,749 (+)NCBI
RefSeq Acc Id: XM_054317908   ⟹   XP_054173883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,810,353 (+)NCBI
RefSeq Acc Id: XR_007065552
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,952,830 (+)NCBI
RefSeq Acc Id: XR_007065553
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,952,830 (+)NCBI
RefSeq Acc Id: XR_008484970
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,784,606 - 47,814,260 (+)NCBI
RefSeq Acc Id: XR_934616
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,952,711 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001012529 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308062 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308063 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317181 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340043 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340044 (Get FASTA)   NCBI Sequence Viewer  
  NP_001340045 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350780 (Get FASTA)   NCBI Sequence Viewer  
  NP_004278 (Get FASTA)   NCBI Sequence Viewer  
  NP_473363 (Get FASTA)   NCBI Sequence Viewer  
  XP_006722253 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523803 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523804 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880867 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880872 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880875 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880876 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880878 (Get FASTA)   NCBI Sequence Viewer  
  XP_016880881 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293068 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293069 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293070 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293071 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293072 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293073 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293074 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293075 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293076 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173865 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173866 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173867 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173868 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173869 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173870 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173871 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173872 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173873 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173874 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173875 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173876 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173877 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173878 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173879 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173880 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173881 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173882 (Get FASTA)   NCBI Sequence Viewer  
  XP_054173883 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB82651 (Get FASTA)   NCBI Sequence Viewer  
  AAH09710 (Get FASTA)   NCBI Sequence Viewer  
  AAH34762 (Get FASTA)   NCBI Sequence Viewer  
  AAK01855 (Get FASTA)   NCBI Sequence Viewer  
  BAF83579 (Get FASTA)   NCBI Sequence Viewer  
  EAW57694 (Get FASTA)   NCBI Sequence Viewer  
  EAW57695 (Get FASTA)   NCBI Sequence Viewer  
  EAW57696 (Get FASTA)   NCBI Sequence Viewer  
  EAW57697 (Get FASTA)   NCBI Sequence Viewer  
  EAW57698 (Get FASTA)   NCBI Sequence Viewer  
  EAW57699 (Get FASTA)   NCBI Sequence Viewer  
  EAW57700 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000225567
  ENSP00000225567.4
  ENSP00000377101
  ENSP00000377101.3
  ENSP00000394559.3
  ENSP00000458154.2
  ENSP00000458911.1
  ENSP00000461460.1
  ENSP00000461673.2
  ENSP00000461784
  ENSP00000461784.2
  ENSP00000491100.1
  ENSP00000491135.1
  ENSP00000491253
  ENSP00000491253.1
  ENSP00000491266
  ENSP00000491266.1
  ENSP00000491283.1
  ENSP00000491361.1
  ENSP00000491396.1
  ENSP00000491399.1
  ENSP00000491432.1
  ENSP00000491682.1
  ENSP00000491709.1
  ENSP00000491749.1
  ENSP00000491785
  ENSP00000491785.1
  ENSP00000491859.1
  ENSP00000491863.1
  ENSP00000491946
  ENSP00000491946.1
  ENSP00000491961.1
  ENSP00000491979
  ENSP00000491979.1
  ENSP00000492139.1
  ENSP00000492146.1
  ENSP00000492206
  ENSP00000492206.1
  ENSP00000492275.1
  ENSP00000492278.1
  ENSP00000492360
  ENSP00000492360.1
  ENSP00000492396.1
  ENSP00000492524
  ENSP00000492524.1
  ENSP00000492544.1
  ENSP00000492548
  ENSP00000492548.1
  ENSP00000492565.1
  ENSP00000492595.1
  ENSP00000492607.1
  ENSP00000492669.1
  ENSP00000492736.1
  ENSP00000492751
  ENSP00000492751.1
  ENSP00000492830
  ENSP00000492830.1
GenBank Protein O14653 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_473363   ⟸   NM_054022
- Peptide Label: isoform B
- UniProtKB: A0A1W2PPG5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004278   ⟸   NM_004287
- Peptide Label: isoform A
- UniProtKB: Q96DA5 (UniProtKB/Swiss-Prot),   Q8N4B8 (UniProtKB/Swiss-Prot),   D3DXJ6 (UniProtKB/Swiss-Prot),   D3DXJ5 (UniProtKB/Swiss-Prot),   Q9BZZ4 (UniProtKB/Swiss-Prot),   O14653 (UniProtKB/Swiss-Prot),   I3L4Z6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001012529   ⟸   NM_001012511
- Peptide Label: isoform C
- UniProtKB: A0A1X7SBU8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006722253   ⟸   XM_006722190
- Peptide Label: isoform X10
- UniProtKB: A0A1W2PQM3 (UniProtKB/TrEMBL),   A0A1W2PPG5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523804   ⟸   XM_011525502
- Peptide Label: isoform X15
- UniProtKB: A0A1W2PPG5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523803   ⟸   XM_011525501
- Peptide Label: isoform X14
- UniProtKB: A0A1W2PPG5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308062   ⟸   NM_001321133
- Peptide Label: isoform D
- UniProtKB: I3NI02 (UniProtKB/TrEMBL),   E7EQ34 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308063   ⟸   NM_001321134
- Peptide Label: isoform E
- UniProtKB: A0A1W2PQE0 (UniProtKB/TrEMBL),   A0A1W2PR23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880872   ⟸   XM_017025383
- Peptide Label: isoform X7
- UniProtKB: E7EQ34 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880875   ⟸   XM_017025386
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016880867   ⟸   XM_017025378
- Peptide Label: isoform X5
- UniProtKB: E7EQ34 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880876   ⟸   XM_017025387
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016880881   ⟸   XM_017025392
- Peptide Label: isoform X16
- UniProtKB: A0A1W2PR23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016880878   ⟸   XM_017025389
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001317181   ⟸   NM_001330252
- Peptide Label: isoform F
- UniProtKB: A0A1W2PR02 (UniProtKB/TrEMBL),   A0A1W2PR23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340043   ⟸   NM_001353114
- Peptide Label: isoform G
- UniProtKB: A0A1W2PRC2 (UniProtKB/TrEMBL),   I3L4Z6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340044   ⟸   NM_001353115
- Peptide Label: isoform H
- UniProtKB: A0A1W2PQ77 (UniProtKB/TrEMBL),   A0A1W2PR23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001340045   ⟸   NM_001353116
- Peptide Label: isoform I
- UniProtKB: A0A1W2PR23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350780   ⟸   NM_001363851
- Peptide Label: isoform J
- UniProtKB: A0A1W2PRL0 (UniProtKB/TrEMBL),   I3L4Z6 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000492669   ⟸   ENST00000623037
RefSeq Acc Id: ENSP00000492524   ⟸   ENST00000638838
RefSeq Acc Id: ENSP00000492607   ⟸   ENST00000638892
RefSeq Acc Id: ENSP00000491946   ⟸   ENST00000638634
RefSeq Acc Id: ENSP00000492360   ⟸   ENST00000638697
RefSeq Acc Id: ENSP00000491266   ⟸   ENST00000638579
RefSeq Acc Id: ENSP00000491749   ⟸   ENST00000638468
RefSeq Acc Id: ENSP00000492139   ⟸   ENST00000638374
RefSeq Acc Id: ENSP00000491961   ⟸   ENST00000638216
RefSeq Acc Id: ENSP00000491399   ⟸   ENST00000638219
RefSeq Acc Id: ENSP00000491785   ⟸   ENST00000638189
RefSeq Acc Id: ENSP00000458154   ⟸   ENST00000570879
RefSeq Acc Id: ENSP00000492595   ⟸   ENST00000571048
RefSeq Acc Id: ENSP00000492396   ⟸   ENST00000639985
RefSeq Acc Id: ENSP00000492278   ⟸   ENST00000639287
RefSeq Acc Id: ENSP00000491396   ⟸   ENST00000639199
RefSeq Acc Id: ENSP00000491283   ⟸   ENST00000639031
RefSeq Acc Id: ENSP00000491100   ⟸   ENST00000639713
RefSeq Acc Id: ENSP00000492544   ⟸   ENST00000639388
RefSeq Acc Id: ENSP00000491253   ⟸   ENST00000639365
RefSeq Acc Id: ENSP00000394559   ⟸   ENST00000415811
RefSeq Acc Id: ENSP00000461784   ⟸   ENST00000573224
RefSeq Acc Id: ENSP00000458911   ⟸   ENST00000575949
RefSeq Acc Id: ENSP00000491432   ⟸   ENST00000640806
RefSeq Acc Id: ENSP00000492275   ⟸   ENST00000640871
RefSeq Acc Id: ENSP00000491863   ⟸   ENST00000640866
RefSeq Acc Id: ENSP00000492736   ⟸   ENST00000640792
RefSeq Acc Id: ENSP00000492146   ⟸   ENST00000640269
RefSeq Acc Id: ENSP00000492565   ⟸   ENST00000640138
RefSeq Acc Id: ENSP00000491709   ⟸   ENST00000640007
RefSeq Acc Id: ENSP00000491682   ⟸   ENST00000640068
RefSeq Acc Id: ENSP00000492751   ⟸   ENST00000640051
RefSeq Acc Id: ENSP00000492206   ⟸   ENST00000640723
RefSeq Acc Id: ENSP00000491361   ⟸   ENST00000640711
RefSeq Acc Id: ENSP00000491979   ⟸   ENST00000640608
RefSeq Acc Id: ENSP00000492830   ⟸   ENST00000640621
RefSeq Acc Id: ENSP00000492548   ⟸   ENST00000640443
RefSeq Acc Id: ENSP00000491859   ⟸   ENST00000640495
RefSeq Acc Id: ENSP00000491135   ⟸   ENST00000640358
RefSeq Acc Id: ENSP00000461673   ⟸   ENST00000576910
RefSeq Acc Id: ENSP00000377101   ⟸   ENST00000393456
RefSeq Acc Id: ENSP00000225567   ⟸   ENST00000225567
RefSeq Acc Id: XP_047293072   ⟸   XM_047437116
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047293075   ⟸   XM_047437119
- Peptide Label: isoform X13
- UniProtKB: A0A1W2PPP5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047293076   ⟸   XM_047437120
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047293070   ⟸   XM_047437114
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047293071   ⟸   XM_047437115
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047293068   ⟸   XM_047437112
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293073   ⟸   XM_047437117
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047293069   ⟸   XM_047437113
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047293074   ⟸   XM_047437118
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054173871   ⟸   XM_054317896
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054173870   ⟸   XM_054317895
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054173875   ⟸   XM_054317900
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054173869   ⟸   XM_054317894
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054173876   ⟸   XM_054317901
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054173877   ⟸   XM_054317902
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054173881   ⟸   XM_054317906
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054173874   ⟸   XM_054317899
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054173882   ⟸   XM_054317907
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054173879   ⟸   XM_054317904
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054173880   ⟸   XM_054317905
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054173873   ⟸   XM_054317898
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054173872   ⟸   XM_054317897
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054173868   ⟸   XM_054317893
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054173866   ⟸   XM_054317891
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054173867   ⟸   XM_054317892
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054173883   ⟸   XM_054317908
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054173865   ⟸   XM_054317890
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173878   ⟸   XM_054317903
- Peptide Label: isoform X18

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14653-F1-model_v2 AlphaFold O14653 1-212 view protein structure

Promoters
RGD ID:6794182
Promoter ID:HG_KWN:26436
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:NM_001012511,   NM_004287,   NM_054022
Position:
Human AssemblyChrPosition (strand)Source
Build 361742,355,199 - 42,355,699 (+)MPROMDB
RGD ID:7235383
Promoter ID:EPDNEW_H23437
Type:initiation region
Name:GOSR2_1
Description:golgi SNAP receptor complex member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23438  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,923,160 - 46,923,220EPDNEW
RGD ID:7235385
Promoter ID:EPDNEW_H23438
Type:initiation region
Name:GOSR2_2
Description:golgi SNAP receptor complex member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23437  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,938,584 - 46,938,644EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4431 AgrOrtholog
COSMIC GOSR2 COSMIC
Ensembl Genes ENSG00000108433 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000262633 UniProtKB/TrEMBL
Ensembl Transcript ENST00000225567 ENTREZGENE
  ENST00000225567.9 UniProtKB/Swiss-Prot
  ENST00000393456 ENTREZGENE
  ENST00000393456.7 UniProtKB/TrEMBL
  ENST00000415811.7 UniProtKB/TrEMBL
  ENST00000570879.2 UniProtKB/TrEMBL
  ENST00000571048.1 UniProtKB/TrEMBL
  ENST00000571841.1 UniProtKB/TrEMBL
  ENST00000573224 ENTREZGENE
  ENST00000573224.2 UniProtKB/TrEMBL
  ENST00000575949.6 UniProtKB/TrEMBL
  ENST00000576910.7 UniProtKB/TrEMBL
  ENST00000623037.2 UniProtKB/TrEMBL
  ENST00000638189 ENTREZGENE
  ENST00000638189.1 UniProtKB/TrEMBL
  ENST00000638216.1 UniProtKB/TrEMBL
  ENST00000638219.1 UniProtKB/TrEMBL
  ENST00000638374.1 UniProtKB/TrEMBL
  ENST00000638468.1 UniProtKB/TrEMBL
  ENST00000638579 ENTREZGENE
  ENST00000638579.1 UniProtKB/TrEMBL
  ENST00000638634 ENTREZGENE
  ENST00000638634.1 UniProtKB/TrEMBL
  ENST00000638697 ENTREZGENE
  ENST00000638697.1 UniProtKB/TrEMBL
  ENST00000638838 ENTREZGENE
  ENST00000638838.1 UniProtKB/TrEMBL
  ENST00000638892.1 UniProtKB/TrEMBL
  ENST00000639031.1 UniProtKB/TrEMBL
  ENST00000639199 ENTREZGENE
  ENST00000639199.1 UniProtKB/TrEMBL
  ENST00000639287.1 UniProtKB/TrEMBL
  ENST00000639365 ENTREZGENE
  ENST00000639365.1 UniProtKB/TrEMBL
  ENST00000639388.1 UniProtKB/TrEMBL
  ENST00000639713.1 UniProtKB/TrEMBL
  ENST00000639985 ENTREZGENE
  ENST00000639985.1 UniProtKB/TrEMBL
  ENST00000640007.1 UniProtKB/TrEMBL
  ENST00000640051 ENTREZGENE
  ENST00000640051.2 UniProtKB/Swiss-Prot
  ENST00000640068.1 UniProtKB/TrEMBL
  ENST00000640138.1 UniProtKB/TrEMBL
  ENST00000640269.1 UniProtKB/TrEMBL
  ENST00000640358 ENTREZGENE
  ENST00000640358.1 UniProtKB/TrEMBL
  ENST00000640443 ENTREZGENE
  ENST00000640443.1 UniProtKB/TrEMBL
  ENST00000640495.1 UniProtKB/TrEMBL
  ENST00000640608 ENTREZGENE
  ENST00000640608.1 UniProtKB/TrEMBL
  ENST00000640621 ENTREZGENE
  ENST00000640621.1 UniProtKB/Swiss-Prot
  ENST00000640711.1 UniProtKB/TrEMBL
  ENST00000640723 ENTREZGENE
  ENST00000640723.1 UniProtKB/TrEMBL
  ENST00000640792.1 UniProtKB/TrEMBL
  ENST00000640806.1 UniProtKB/TrEMBL
  ENST00000640866.1 UniProtKB/TrEMBL
  ENST00000640871.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.110 UniProtKB/TrEMBL
  1.20.58.400 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108433 GTEx
  ENSG00000262633 GTEx
HGNC ID HGNC:4431 ENTREZGENE
Human Proteome Map GOSR2 Human Proteome Map
InterPro GOSR2/Membrin/Bos1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNARE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  v-SNARE_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9570 UniProtKB/Swiss-Prot
NCBI Gene 9570 ENTREZGENE
OMIM 604027 OMIM
PANTHER GOLGI SNAP RECEPTOR COMPLEX MEMBER 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VESICLE TRANSPORT V-SNARE PROTEIN VTI1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam V-SNARE_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28816 PharmGKB
PIRSF Membrin-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS F138DOMAIN UniProtKB/TrEMBL
Superfamily-SCOP SNARE fusion complex UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47661 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PNV3_HUMAN UniProtKB/TrEMBL
  A0A1W2PP28_HUMAN UniProtKB/TrEMBL
  A0A1W2PPE0_HUMAN UniProtKB/TrEMBL
  A0A1W2PPG1_HUMAN UniProtKB/TrEMBL
  A0A1W2PPG5 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PPJ0_HUMAN UniProtKB/TrEMBL
  A0A1W2PPP5 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PPW8_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ06_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ12_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ38_HUMAN UniProtKB/TrEMBL
  A0A1W2PQ77 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQE0 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQM3 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PQP2_HUMAN UniProtKB/TrEMBL
  A0A1W2PQQ4_HUMAN UniProtKB/TrEMBL
  A0A1W2PQS3_HUMAN UniProtKB/TrEMBL
  A0A1W2PR02 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PR23 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PRC2 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PRD0_HUMAN UniProtKB/TrEMBL
  A0A1W2PRE6_HUMAN UniProtKB/TrEMBL
  A0A1W2PRH7_HUMAN UniProtKB/TrEMBL
  A0A1W2PRL0 ENTREZGENE, UniProtKB/TrEMBL
  A0A1W2PRP7_HUMAN UniProtKB/TrEMBL
  A0A1W2PRV0_HUMAN UniProtKB/TrEMBL
  A0A1W2PS12_HUMAN UniProtKB/TrEMBL
  A0A1W2PS81_HUMAN UniProtKB/TrEMBL
  A0A1X7SBU8 ENTREZGENE, UniProtKB/TrEMBL
  D3DXJ5 ENTREZGENE
  D3DXJ6 ENTREZGENE
  E7EQ34 ENTREZGENE, UniProtKB/TrEMBL
  GOSR2_HUMAN UniProtKB/Swiss-Prot
  I3L0K1_HUMAN UniProtKB/TrEMBL
  I3L1K7_HUMAN UniProtKB/TrEMBL
  I3L4Z6 ENTREZGENE, UniProtKB/TrEMBL
  I3NI02 ENTREZGENE, UniProtKB/TrEMBL
  O14653 ENTREZGENE
  Q8N4B8 ENTREZGENE
  Q96DA5 ENTREZGENE
  Q9BZZ4 ENTREZGENE
UniProt Secondary D3DXJ5 UniProtKB/Swiss-Prot
  D3DXJ6 UniProtKB/Swiss-Prot
  Q8N4B8 UniProtKB/Swiss-Prot
  Q96DA5 UniProtKB/Swiss-Prot
  Q9BZZ4 UniProtKB/Swiss-Prot