Canonical Allele Identifier: CA6904282

Gene: GJB2

Linked Data

• ClinVar Variation Id: 551991
• ClinVar RCV Id: RCV000667174
• dbSNP Id: rs779358271
• ExAC: 13:20763403 G / T
• gnomAD v2: 13-20763403-G-T
• gnomAD v3: 13-20189264-G-T
• gnomAD v4: 13-20189264-G-T
• MyVariant Identifiers: chr13:g.20763403G>T (hg19) ; chr13:g.20189264G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189264G>T , CM000675.2:g.20189264G>T	GRCh38
NC_000013.10:g.20763403G>T , CM000675.1:g.20763403G>T	GRCh37
NC_000013.9:g.19661403G>T	NCBI36
NG_008358.1:g.8712C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.318C>A	ENSP00000372295.1:p.Phe106Leu
ENST00000382848.5:c.318C>A MANE Select	ENSP00000372299.4:p.Phe106Leu
ENST00000382844.1:c.318C>A	ENSP00000372295.1:p.Phe106Leu
ENST00000382848.4:c.318C>A	ENSP00000372299.4:p.Phe106Leu
NM_004004.5:c.318C>A	NP_003995.2:p.Phe106Leu
XM_011535049.1:c.318C>A	XP_011533351.1:p.Phe106Leu
XM_011535049.2:c.318C>A	XP_011533351.1:p.Phe106Leu
NM_004004.6:c.318C>A MANE Select	NP_003995.2:p.Phe106Leu