Canonical Allele Identifier: CA6904317
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 449490
ClinVar RCV Id: RCV000520583 RCV000826112 RCV000855645 RCV001252676
dbSNP Id: rs141774369
ExAC: 13:20763611 A / G
gnomAD v2: 13-20763611-A-G
gnomAD v3: 13-20189472-A-G
gnomAD v4: 13-20189472-A-G
MyVariant Identifiers: chr13:g.20763611A>G (hg19) chr13:g.20189472A>G (hg38)
ERepo: CA6904317/MONDO:0019497/005
PubMed: PMID:15365987 PMID:17666888 PMID:21287563 PMID:25087612 PMID:25388846
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189472A>G , CM000675.2:g.20189472A>G GRCh38
NC_000013.10:g.20763611A>G , CM000675.1:g.20763611A>G GRCh37
NC_000013.9:g.19661611A>G NCBI36
NG_008358.1:g.8504T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.110T>C ENSP00000372295.1:p.Val37Ala
ENST00000382848.5:c.110T>C MANE Select ENSP00000372299.4:p.Val37Ala
ENST00000382844.1:c.110T>C ENSP00000372295.1:p.Val37Ala
ENST00000382848.4:c.110T>C ENSP00000372299.4:p.Val37Ala
NM_004004.5:c.110T>C NP_003995.2:p.Val37Ala
XM_011535049.1:c.110T>C XP_011533351.1:p.Val37Ala
XM_011535049.2:c.110T>C XP_011533351.1:p.Val37Ala
NM_004004.6:c.110T>C MANE Select NP_003995.2:p.Val37Ala
Search 100 bp 5'
Search 100 bp 3'