Canonical Allele Identifier: CA127025
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17014
dbSNP Id: rs80338943

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189349del , CM000675.2:g.20189349del GRCh38
NC_000013.10:g.20763488del , CM000675.1:g.20763488del GRCh37
NC_000013.9:g.19661488del NCBI36
NG_008358.1:g.8629del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.235del ENSP00000372295.1:p.Leu79CysfsTer3
ENST00000382848.5:c.235del MANE Select ENSP00000372299.4:p.Leu79CysfsTer3
ENST00000382844.1:c.235del ENSP00000372295.1:p.Leu79CysfsTer3
ENST00000382848.4:c.235del ENSP00000372299.4:p.Leu79CysfsTer3
NM_004004.5:c.235del NP_003995.2:p.Leu79CysfsTer3
XM_011535049.1:c.235del XP_011533351.1:p.Leu79CysfsTer3
XM_011535049.2:c.235del XP_011533351.1:p.Leu79CysfsTer3
NM_004004.6:c.235del MANE Select NP_003995.2:p.Leu79CysfsTer3