Canonical Allele Identifier: CA387460941

Gene: GJB2

Linked Data

• dbSNP Id: rs1227280014
• gnomAD v2: 13-20763182-C-T
• gnomAD v4: 13-20189043-C-T
• MyVariant Identifiers: chr13:g.20763182C>T (hg19) ; chr13:g.20189043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189043C>T , CM000675.2:g.20189043C>T	GRCh38
NC_000013.10:g.20763182C>T , CM000675.1:g.20763182C>T	GRCh37
NC_000013.9:g.19661182C>T	NCBI36
NG_008358.1:g.8933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.539G>A	ENSP00000372295.1:p.Cys180Tyr
ENST00000382848.5:c.539G>A MANE Select	ENSP00000372299.4:p.Cys180Tyr
ENST00000382844.1:c.539G>A	ENSP00000372295.1:p.Cys180Tyr
ENST00000382848.4:c.539G>A	ENSP00000372299.4:p.Cys180Tyr
NM_004004.5:c.539G>A	NP_003995.2:p.Cys180Tyr
XM_011535049.1:c.539G>A	XP_011533351.1:p.Cys180Tyr
XM_011535049.2:c.539G>A	XP_011533351.1:p.Cys180Tyr
NM_004004.6:c.539G>A MANE Select	NP_003995.2:p.Cys180Tyr