Canonical Allele Identifier: CA127030

Gene: GJB2

Linked Data

• ClinVar Variation Id: 17027
• ClinVar RCV Id: RCV000018554 ; RCV000018555 ; RCV000211764 ; RCV000254728 ; RCV000210858 ; RCV001257038 ; RCV001291331
• dbSNP Id: rs28931593
• gnomAD v3: 13-20189358-C-T
• gnomAD v4: 13-20189358-C-T
• MyVariant Identifiers: chr13:g.20763497C>T (hg19) ; chr13:g.20189358C>T (hg38)
• PubMed: PMID:12372058 ; PMID:15790391 ; PMID:15996214 ; PMID:16059934 ; PMID:20096356 ; PMID:20301708 ; PMID:21040787 ; PMID:23451214

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189358C>T , CM000675.2:g.20189358C>T	GRCh38
NC_000013.10:g.20763497C>T , CM000675.1:g.20763497C>T	GRCh37
NC_000013.9:g.19661497C>T	NCBI36
NG_008358.1:g.8618G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.224G>A	ENSP00000372295.1:p.Arg75Gln
ENST00000382848.5:c.224G>A MANE Select	ENSP00000372299.4:p.Arg75Gln
ENST00000382844.1:c.224G>A	ENSP00000372295.1:p.Arg75Gln
ENST00000382848.4:c.224G>A	ENSP00000372299.4:p.Arg75Gln
NM_004004.5:c.224G>A	NP_003995.2:p.Arg75Gln
XM_011535049.1:c.224G>A	XP_011533351.1:p.Arg75Gln
XM_011535049.2:c.224G>A	XP_011533351.1:p.Arg75Gln
NM_004004.6:c.224G>A MANE Select	NP_003995.2:p.Arg75Gln