Canonical Allele Identifier: CA10576937
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 228264
dbSNP Id: rs779018464

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189193C>G , CM000675.2:g.20189193C>G GRCh38
NC_000013.10:g.20763332C>G , CM000675.1:g.20763332C>G GRCh37
NC_000013.9:g.19661332C>G NCBI36
NG_008358.1:g.8783G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.389G>C ENSP00000372295.1:p.Gly130Ala
ENST00000382848.5:c.389G>C MANE Select ENSP00000372299.4:p.Gly130Ala
ENST00000382844.1:c.389G>C ENSP00000372295.1:p.Gly130Ala
ENST00000382848.4:c.389G>C ENSP00000372299.4:p.Gly130Ala
NM_004004.5:c.389G>C NP_003995.2:p.Gly130Ala
XM_011535049.1:c.389G>C XP_011533351.1:p.Gly130Ala
XM_011535049.2:c.389G>C XP_011533351.1:p.Gly130Ala
NM_004004.6:c.389G>C MANE Select NP_003995.2:p.Gly130Ala