Canonical Allele Identifier: CA483153766
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1540581
ClinVar RCV Id: RCV002172080
dbSNP Id: rs1959060111
gnomAD v4: 13-20189314-G-A
COSMIC: COSM1253260
MyVariant Identifiers: chr13:g.20763453G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189314G>A , CM000675.2:g.20189314G>A GRCh38
NC_000013.10:g.20763453G>A , CM000675.1:g.20763453G>A GRCh37
NC_000013.9:g.19661453G>A NCBI36
NG_008358.1:g.8662C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.268C>T ENSP00000372295.1:p.Leu90=
ENST00000382848.5:c.268C>T MANE Select ENSP00000372299.4:p.Leu90=
ENST00000382844.1:c.268C>T ENSP00000372295.1:p.Leu90=
ENST00000382848.4:c.268C>T ENSP00000372299.4:p.Leu90=
NM_004004.5:c.268C>T NP_003995.2:p.Leu90=
XM_011535049.1:c.268C>T XP_011533351.1:p.Leu90=
XM_011535049.2:c.268C>T XP_011533351.1:p.Leu90=
NM_004004.6:c.268C>T MANE Select NP_003995.2:p.Leu90=
Search 100 bp 5'
Search 100 bp 3'