Canonical Allele Identifier: CA483153794
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1126716
ClinVar RCV Id: RCV001458873
dbSNP Id: rs1959060799
gnomAD v3: 13-20189354-T-C
gnomAD v4: 13-20189354-T-C
MyVariant Identifiers: chr13:g.20763493T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189354T>C , CM000675.2:g.20189354T>C GRCh38
NC_000013.10:g.20763493T>C , CM000675.1:g.20763493T>C GRCh37
NC_000013.9:g.19661493T>C NCBI36
NG_008358.1:g.8622A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.228A>G ENSP00000372295.1:p.Leu76=
ENST00000382848.5:c.228A>G MANE Select ENSP00000372299.4:p.Leu76=
ENST00000382844.1:c.228A>G ENSP00000372295.1:p.Leu76=
ENST00000382848.4:c.228A>G ENSP00000372299.4:p.Leu76=
NM_004004.5:c.228A>G NP_003995.2:p.Leu76=
XM_011535049.1:c.228A>G XP_011533351.1:p.Leu76=
XM_011535049.2:c.228A>G XP_011533351.1:p.Leu76=
NM_004004.6:c.228A>G MANE Select NP_003995.2:p.Leu76=
Search 100 bp 5'
Search 100 bp 3'