Canonical Allele Identifier: CA6904298

Gene: GJB2

Linked Data

• ClinVar Variation Id: 311372
• ClinVar RCV Id: RCV000280037 ; RCV000340839 ; RCV000671813
• dbSNP Id: rs145216882
• ExAC: 13:20763480 G / C
• gnomAD v2: 13-20763480-G-C
• gnomAD v3: 13-20189341-G-C
• gnomAD v4: 13-20189341-G-C
• MyVariant Identifiers: chr13:g.20763480G>C (hg19) ; chr13:g.20189341G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189341G>C , CM000675.2:g.20189341G>C	GRCh38
NC_000013.10:g.20763480G>C , CM000675.1:g.20763480G>C	GRCh37
NC_000013.9:g.19661480G>C	NCBI36
NG_008358.1:g.8635C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.241C>G	ENSP00000372295.1:p.Leu81Val
ENST00000382848.5:c.241C>G MANE Select	ENSP00000372299.4:p.Leu81Val
ENST00000382844.1:c.241C>G	ENSP00000372295.1:p.Leu81Val
ENST00000382848.4:c.241C>G	ENSP00000372299.4:p.Leu81Val
NM_004004.5:c.241C>G	NP_003995.2:p.Leu81Val
XM_011535049.1:c.241C>G	XP_011533351.1:p.Leu81Val
XM_011535049.2:c.241C>G	XP_011533351.1:p.Leu81Val
NM_004004.6:c.241C>G MANE Select	NP_003995.2:p.Leu81Val