Canonical Allele Identifier: CA127023
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17004
dbSNP Id: rs80338939

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189552del , CM000675.2:g.20189552del GRCh38
NC_000013.10:g.20763691del , CM000675.1:g.20763691del GRCh37
NC_000013.9:g.19661691del NCBI36
NG_008358.1:g.8429del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.35del ENSP00000372295.1:p.Gly12ValfsTer2
ENST00000382848.5:c.35del MANE Select ENSP00000372299.4:p.Gly12ValfsTer2
ENST00000382844.1:c.35del ENSP00000372295.1:p.Gly12ValfsTer2
ENST00000382848.4:c.35del ENSP00000372299.4:p.Gly12ValfsTer2
NM_004004.5:c.35del NP_003995.2:p.Gly12ValfsTer2
XM_011535049.1:c.35del XP_011533351.1:p.Gly12ValfsTer2
XM_011535049.2:c.35del XP_011533351.1:p.Gly12ValfsTer2
NM_004004.6:c.35del MANE Select NP_003995.2:p.Gly12ValfsTer2