Canonical Allele Identifier: CA6904334
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 585738
ClinVar RCV Id: RCV000711345 RCV001830575 RCV002493261
dbSNP Id: rs781085903
ExAC: 13:20763707 G / A
gnomAD v2: 13-20763707-G-A
gnomAD v3: 13-20189568-G-A
gnomAD v4: 13-20189568-G-A
MyVariant Identifiers: chr13:g.20763707G>A (hg19) chr13:g.20189568G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189568G>A , CM000675.2:g.20189568G>A GRCh38
NC_000013.10:g.20763707G>A , CM000675.1:g.20763707G>A GRCh37
NC_000013.9:g.19661707G>A NCBI36
NG_008358.1:g.8408C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.14C>T ENSP00000372295.1:p.Thr5Met
ENST00000382848.5:c.14C>T MANE Select ENSP00000372299.4:p.Thr5Met
ENST00000382844.1:c.14C>T ENSP00000372295.1:p.Thr5Met
ENST00000382848.4:c.14C>T ENSP00000372299.4:p.Thr5Met
NM_004004.5:c.14C>T NP_003995.2:p.Thr5Met
XM_011535049.1:c.14C>T XP_011533351.1:p.Thr5Met
XM_011535049.2:c.14C>T XP_011533351.1:p.Thr5Met
NM_004004.6:c.14C>T MANE Select NP_003995.2:p.Thr5Met
Search 100 bp 5'
Search 100 bp 3'