Canonical Allele Identifier: CA6904281

Gene: GJB2

Linked Data

• ClinVar Variation Id: 1064972
• ClinVar RCV Id: RCV001375241 ; RCV002271648 ; RCV002499771 ; RCV003327514
• dbSNP Id: rs374572413
• ExAC: 13:20763395 C / T
• gnomAD v2: 13-20763395-C-T
• gnomAD v3: 13-20189256-C-T
• gnomAD v4: 13-20189256-C-T
• MyVariant Identifiers: chr13:g.20763395C>T (hg19) ; chr13:g.20189256C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189256C>T , CM000675.2:g.20189256C>T	GRCh38
NC_000013.10:g.20763395C>T , CM000675.1:g.20763395C>T	GRCh37
NC_000013.9:g.19661395C>T	NCBI36
NG_008358.1:g.8720G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.326G>A	ENSP00000372295.1:p.Gly109Glu
ENST00000382848.5:c.326G>A MANE Select	ENSP00000372299.4:p.Gly109Glu
ENST00000382844.1:c.326G>A	ENSP00000372295.1:p.Gly109Glu
ENST00000382848.4:c.326G>A	ENSP00000372299.4:p.Gly109Glu
NM_004004.5:c.326G>A	NP_003995.2:p.Gly109Glu
XM_011535049.1:c.326G>A	XP_011533351.1:p.Gly109Glu
XM_011535049.2:c.326G>A	XP_011533351.1:p.Gly109Glu
NM_004004.6:c.326G>A MANE Select	NP_003995.2:p.Gly109Glu