Canonical Allele Identifier: CA127031
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17028
ClinVar RCV Id: RCV000018556
dbSNP Id: rs28931594
MyVariant Identifiers: chr13:g.20763573C>A (hg19) chr13:g.20189434C>A (hg38)
PubMed: PMID:12752120 PMID:14700667
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.148G>T ENSP00000372295.1:p.Asp50Tyr
ENST00000382848.5:c.148G>T MANE Select ENSP00000372299.4:p.Asp50Tyr
ENST00000382844.1:c.148G>T ENSP00000372295.1:p.Asp50Tyr
ENST00000382848.4:c.148G>T ENSP00000372299.4:p.Asp50Tyr
NM_004004.5:c.148G>T NP_003995.2:p.Asp50Tyr
XM_011535049.1:c.148G>T XP_011533351.1:p.Asp50Tyr
XM_011535049.2:c.148G>T XP_011533351.1:p.Asp50Tyr
NM_004004.6:c.148G>T MANE Select NP_003995.2:p.Asp50Tyr
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