Canonical Allele Identifier: CA6904247

Gene: GJB2

Linked Data

• ClinVar Variation Id: 557805
• ClinVar RCV Id: RCV000673989 ; RCV001861830
• dbSNP Id: rs770330002
• ExAC: 13:20763207 A / T
• gnomAD v2: 13-20763207-A-T
• gnomAD v4: 13-20189068-A-T
• MyVariant Identifiers: chr13:g.20763207A>T (hg19) ; chr13:g.20189068A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189068A>T , CM000675.2:g.20189068A>T	GRCh38
NC_000013.10:g.20763207A>T , CM000675.1:g.20763207A>T	GRCh37
NC_000013.9:g.19661207A>T	NCBI36
NG_008358.1:g.8908T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.514T>A	ENSP00000372295.1:p.Trp172Arg
ENST00000382848.5:c.514T>A MANE Select	ENSP00000372299.4:p.Trp172Arg
ENST00000382844.1:c.514T>A	ENSP00000372295.1:p.Trp172Arg
ENST00000382848.4:c.514T>A	ENSP00000372299.4:p.Trp172Arg
NM_004004.5:c.514T>A	NP_003995.2:p.Trp172Arg
XM_011535049.1:c.514T>A	XP_011533351.1:p.Trp172Arg
XM_011535049.2:c.514T>A	XP_011533351.1:p.Trp172Arg
NM_004004.6:c.514T>A MANE Select	NP_003995.2:p.Trp172Arg