Canonical Allele Identifier: CA483154060
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1569483
ClinVar RCV Id: RCV002220709
dbSNP Id: rs757226502
gnomAD v4: 13-20189567-C-G
MyVariant Identifiers: chr13:g.20763706C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189567C>G , CM000675.2:g.20189567C>G GRCh38
NC_000013.10:g.20763706C>G , CM000675.1:g.20763706C>G GRCh37
NC_000013.9:g.19661706C>G NCBI36
NG_008358.1:g.8409G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.15G>C ENSP00000372295.1:p.Thr5=
ENST00000382848.5:c.15G>C MANE Select ENSP00000372299.4:p.Thr5=
ENST00000382844.1:c.15G>C ENSP00000372295.1:p.Thr5=
ENST00000382848.4:c.15G>C ENSP00000372299.4:p.Thr5=
NM_004004.5:c.15G>C NP_003995.2:p.Thr5=
XM_011535049.1:c.15G>C XP_011533351.1:p.Thr5=
XM_011535049.2:c.15G>C XP_011533351.1:p.Thr5=
NM_004004.6:c.15G>C MANE Select NP_003995.2:p.Thr5=
Search 100 bp 5'
Search 100 bp 3'