Canonical Allele Identifier: CA261654

Gene: GJB2

Linked Data

• ClinVar Variation Id: 44766
• ClinVar RCV Id: RCV000037873 ; RCV000410025 ; RCV000411577 ; RCV001218538 ; RCV001374640 ; RCV003390729
• dbSNP Id: rs111033190
• ExAC: 13:20763626 C / T
• gnomAD v2: 13-20763626-C-T
• gnomAD v3: 13-20189487-C-T
• gnomAD v4: 13-20189487-C-T
• MyVariant Identifiers: chr13:g.20763626C>T (hg19) ; chr13:g.20189487C>T (hg38)
• PubMed: PMID:11493200 ; PMID:11584050 ; PMID:15070423 ; PMID:15150777 ; PMID:15365987 ; PMID:15617550 ; PMID:15666300 ; PMID:15967879 ; PMID:16380907 ; PMID:16931589 ; PMID:17666888 ; PMID:17935238 ; PMID:19715472 ; PMID:20086306 ; PMID:20863150 ; PMID:22613756 ; PMID:25388846

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189487C>T , CM000675.2:g.20189487C>T	GRCh38
NC_000013.10:g.20763626C>T , CM000675.1:g.20763626C>T	GRCh37
NC_000013.9:g.19661626C>T	NCBI36
NG_008358.1:g.8489G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.95G>A	ENSP00000372295.1:p.Arg32His
ENST00000382848.5:c.95G>A MANE Select	ENSP00000372299.4:p.Arg32His
ENST00000382844.1:c.95G>A	ENSP00000372295.1:p.Arg32His
ENST00000382848.4:c.95G>A	ENSP00000372299.4:p.Arg32His
NM_004004.5:c.95G>A	NP_003995.2:p.Arg32His
XM_011535049.1:c.95G>A	XP_011533351.1:p.Arg32His
XM_011535049.2:c.95G>A	XP_011533351.1:p.Arg32His
NM_004004.6:c.95G>A MANE Select	NP_003995.2:p.Arg32His