Canonical Allele Identifier: CA127027

Gene: GJB2

Linked Data

• ClinVar Variation Id: 17020
• ClinVar RCV Id: RCV000018546 ; RCV000018547 ; RCV000412852 ; RCV000678868 ; RCV001175247 ; RCV002243652 ; RCV002247355
• dbSNP Id: rs28931594
• MyVariant Identifiers: chr13:g.20763573C>T (hg19) ; chr13:g.20189434C>T (hg38)
• PubMed: PMID:11912510 ; PMID:12072059 ; PMID:12548749 ; PMID:15633193 ; PMID:17330861 ; PMID:18843290 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189434C>T , CM000675.2:g.20189434C>T	GRCh38
NC_000013.10:g.20763573C>T , CM000675.1:g.20763573C>T	GRCh37
NC_000013.9:g.19661573C>T	NCBI36
NG_008358.1:g.8542G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.148G>A	ENSP00000372295.1:p.Asp50Asn
ENST00000382848.5:c.148G>A MANE Select	ENSP00000372299.4:p.Asp50Asn
ENST00000382844.1:c.148G>A	ENSP00000372295.1:p.Asp50Asn
ENST00000382848.4:c.148G>A	ENSP00000372299.4:p.Asp50Asn
NM_004004.5:c.148G>A	NP_003995.2:p.Asp50Asn
XM_011535049.1:c.148G>A	XP_011533351.1:p.Asp50Asn
XM_011535049.2:c.148G>A	XP_011533351.1:p.Asp50Asn
NM_004004.6:c.148G>A MANE Select	NP_003995.2:p.Asp50Asn