Canonical Allele Identifier: CA6904251

Gene: GJB2

Linked Data

• ClinVar Variation Id: 265481
• ClinVar RCV Id: RCV000256090 ; RCV000587164 ; RCV000763322
• dbSNP Id: rs774518779
• ExAC: 13:20763215 C / T
• gnomAD v2: 13-20763215-C-T
• gnomAD v4: 13-20189076-C-T
• MyVariant Identifiers: chr13:g.20763215C>T (hg19) ; chr13:g.20189076C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189076C>T , CM000675.2:g.20189076C>T	GRCh38
NC_000013.10:g.20763215C>T , CM000675.1:g.20763215C>T	GRCh37
NC_000013.9:g.19661215C>T	NCBI36
NG_008358.1:g.8900G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.506G>A	ENSP00000372295.1:p.Cys169Tyr
ENST00000382848.5:c.506G>A MANE Select	ENSP00000372299.4:p.Cys169Tyr
ENST00000382844.1:c.506G>A	ENSP00000372295.1:p.Cys169Tyr
ENST00000382848.4:c.506G>A	ENSP00000372299.4:p.Cys169Tyr
NM_004004.5:c.506G>A	NP_003995.2:p.Cys169Tyr
XM_011535049.1:c.506G>A	XP_011533351.1:p.Cys169Tyr
XM_011535049.2:c.506G>A	XP_011533351.1:p.Cys169Tyr
NM_004004.6:c.506G>A MANE Select	NP_003995.2:p.Cys169Tyr