Canonical Allele Identifier: CA387461847
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331603
ClinVar RCV Id: RCV001806947
dbSNP Id: rs1064797088

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189446C>G , CM000675.2:g.20189446C>G GRCh38
NC_000013.10:g.20763585C>G , CM000675.1:g.20763585C>G GRCh37
NC_000013.9:g.19661585C>G NCBI36
NG_008358.1:g.8530G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.136G>C ENSP00000372295.1:p.Asp46His
ENST00000382848.5:c.136G>C MANE Select ENSP00000372299.4:p.Asp46His
ENST00000382844.1:c.136G>C ENSP00000372295.1:p.Asp46His
ENST00000382848.4:c.136G>C ENSP00000372299.4:p.Asp46His
NM_004004.5:c.136G>C NP_003995.2:p.Asp46His
XM_011535049.1:c.136G>C XP_011533351.1:p.Asp46His
XM_011535049.2:c.136G>C XP_011533351.1:p.Asp46His
NM_004004.6:c.136G>C MANE Select NP_003995.2:p.Asp46His