Canonical Allele Identifier: CA6904260
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2627130
ClinVar RCV Id: RCV003388324
dbSNP Id: rs373684994
ExAC: 13:20763246 C / A
gnomAD v2: 13-20763246-C-A
gnomAD v3: 13-20189107-C-A
gnomAD v4: 13-20189107-C-A
COSMIC: COSM353835
MyVariant Identifiers: chr13:g.20763246C>A (hg19) chr13:g.20189107C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189107C>A , CM000675.2:g.20189107C>A GRCh38
NC_000013.10:g.20763246C>A , CM000675.1:g.20763246C>A GRCh37
NC_000013.9:g.19661246C>A NCBI36
NG_008358.1:g.8869G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.475G>T ENSP00000372295.1:p.Asp159Tyr
ENST00000382848.5:c.475G>T MANE Select ENSP00000372299.4:p.Asp159Tyr
ENST00000382844.1:c.475G>T ENSP00000372295.1:p.Asp159Tyr
ENST00000382848.4:c.475G>T ENSP00000372299.4:p.Asp159Tyr
NM_004004.5:c.475G>T NP_003995.2:p.Asp159Tyr
XM_011535049.1:c.475G>T XP_011533351.1:p.Asp159Tyr
XM_011535049.2:c.475G>T XP_011533351.1:p.Asp159Tyr
NM_004004.6:c.475G>T MANE Select NP_003995.2:p.Asp159Tyr
Search 100 bp 5'
Search 100 bp 3'