Canonical Allele Identifier: CA180700

Gene: GJB2

Linked Data

• ClinVar Variation Id: 177751
• ClinVar RCV Id: RCV000154364 ; RCV000711348 ; RCV000765115 ; RCV001271875
• dbSNP Id: rs727504309
• ExAC: 13:20763533 A / G
• gnomAD v2: 13-20763533-A-G
• gnomAD v3: 13-20189394-A-G
• gnomAD v4: 13-20189394-A-G
• MyVariant Identifiers: chr13:g.20763533A>G (hg19) ; chr13:g.20189394A>G (hg38)
• PubMed: PMID:17041943

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189394A>G , CM000675.2:g.20189394A>G	GRCh38
NC_000013.10:g.20763533A>G , CM000675.1:g.20763533A>G	GRCh37
NC_000013.9:g.19661533A>G	NCBI36
NG_008358.1:g.8582T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.188T>C	ENSP00000372295.1:p.Val63Ala
ENST00000382848.5:c.188T>C MANE Select	ENSP00000372299.4:p.Val63Ala
ENST00000382844.1:c.188T>C	ENSP00000372295.1:p.Val63Ala
ENST00000382848.4:c.188T>C	ENSP00000372299.4:p.Val63Ala
NM_004004.5:c.188T>C	NP_003995.2:p.Val63Ala
XM_011535049.1:c.188T>C	XP_011533351.1:p.Val63Ala
XM_011535049.2:c.188T>C	XP_011533351.1:p.Val63Ala
NM_004004.6:c.188T>C MANE Select	NP_003995.2:p.Val63Ala