Canonical Allele Identifier: CA180672

Gene: GJB2

Linked Data

• ClinVar Variation Id: 177736
• ClinVar RCV Id: RCV000154346 ; RCV000299050 ; RCV000404295 ; RCV000668216 ; RCV000724444
• dbSNP Id: rs376898963
• ExAC: 13:20763228 G / A
• gnomAD v2: 13-20763228-G-A
• gnomAD v3: 13-20189089-G-A
• gnomAD v4: 13-20189089-G-A
• MyVariant Identifiers: chr13:g.20763228G>A (hg19) ; chr13:g.20189089G>A (hg38)
• PubMed: PMID:11494963 ; PMID:15617550 ; PMID:20863150 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189089G>A , CM000675.2:g.20189089G>A	GRCh38
NC_000013.10:g.20763228G>A , CM000675.1:g.20763228G>A	GRCh37
NC_000013.9:g.19661228G>A	NCBI36
NG_008358.1:g.8887C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.493C>T	ENSP00000372295.1:p.Arg165Trp
ENST00000382848.5:c.493C>T MANE Select	ENSP00000372299.4:p.Arg165Trp
ENST00000382844.1:c.493C>T	ENSP00000372295.1:p.Arg165Trp
ENST00000382848.4:c.493C>T	ENSP00000372299.4:p.Arg165Trp
NM_004004.5:c.493C>T	NP_003995.2:p.Arg165Trp
XM_011535049.1:c.493C>T	XP_011533351.1:p.Arg165Trp
XM_011535049.2:c.493C>T	XP_011533351.1:p.Arg165Trp
NM_004004.6:c.493C>T MANE Select	NP_003995.2:p.Arg165Trp