Canonical Allele Identifier: CA10639102
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 311358
dbSNP Id: rs185790172

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187868C>T , CM000675.2:g.20187868C>T GRCh38
NC_000013.10:g.20762007C>T , CM000675.1:g.20762007C>T GRCh37
NC_000013.9:g.19660007C>T NCBI36
NG_008358.1:g.10108G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*1033G>A ENSP00000372295.1:p.=
ENST00000382848.5:c.*1033G>A MANE Select ENSP00000372299.4:p.=
ENST00000382844.1:c.*1033G>A ENSP00000372295.1:p.=
ENST00000382848.4:c.*1033G>A ENSP00000372299.4:p.=
NM_004004.5:c.*1033G>A NP_003995.2:p.=
XM_011535049.1:c.*1033G>A XP_011533351.1:p.=
XM_011535049.2:c.*1033G>A XP_011533351.1:p.=
NM_004004.6:c.*1033G>A MANE Select NP_003995.2:p.=