Canonical Allele Identifier: CA274012

Gene: GJB2

Linked Data

• ClinVar Variation Id: 188830
• ClinVar RCV Id: RCV000169176 ; RCV000515211 ; RCV000517231 ; RCV000624765
• dbSNP Id: rs104894413
• ExAC: 13:20763590 C / T
• gnomAD v2: 13-20763590-C-T
• gnomAD v3: 13-20189451-C-T
• gnomAD v4: 13-20189451-C-T
• MyVariant Identifiers: chr13:g.20763590C>T (hg19) ; chr13:g.20189451C>T (hg38)
• PubMed: PMID:10369869 ; PMID:10376574 ; PMID:10633135 ; PMID:10807696 ; PMID:11102979 ; PMID:11493200 ; PMID:11918723 ; PMID:12072059 ; PMID:15040442 ; PMID:15070423 ; PMID:15365987 ; PMID:15482471 ; PMID:16380907 ; PMID:17041943 ; PMID:17666888 ; PMID:18804553 ; PMID:21131880 ; PMID:21287563 ; PMID:21465647 ; PMID:25937001 ; PMID:26346709 ; PMID:26940866

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189451C>T , CM000675.2:g.20189451C>T	GRCh38
NC_000013.10:g.20763590C>T , CM000675.1:g.20763590C>T	GRCh37
NC_000013.9:g.19661590C>T	NCBI36
NG_008358.1:g.8525G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.131G>A	ENSP00000372295.1:p.Trp44Ter
ENST00000382848.5:c.131G>A MANE Select	ENSP00000372299.4:p.Trp44Ter
ENST00000382844.1:c.131G>A	ENSP00000372295.1:p.Trp44Ter
ENST00000382848.4:c.131G>A	ENSP00000372299.4:p.Trp44Ter
NM_004004.5:c.131G>A	NP_003995.2:p.Trp44Ter
XM_011535049.1:c.131G>A	XP_011533351.1:p.Trp44Ter
XM_011535049.2:c.131G>A	XP_011533351.1:p.Trp44Ter
NM_004004.6:c.131G>A MANE Select	NP_003995.2:p.Trp44Ter