Canonical Allele Identifier: CA16041593
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371755
dbSNP Id: rs1057517508

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189068del , CM000675.2:g.20189068del GRCh38
NC_000013.10:g.20763207del , CM000675.1:g.20763207del GRCh37
NC_000013.9:g.19661207del NCBI36
NG_008358.1:g.8908del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.514del ENSP00000372295.1:p.Trp172GlyfsTer24
ENST00000382848.5:c.514del MANE Select ENSP00000372299.4:p.Trp172GlyfsTer24
ENST00000382844.1:c.514del ENSP00000372295.1:p.Trp172GlyfsTer24
ENST00000382848.4:c.514del ENSP00000372299.4:p.Trp172GlyfsTer24
NM_004004.5:c.514del NP_003995.2:p.Trp172GlyfsTer24
XM_011535049.1:c.514del XP_011533351.1:p.Trp172GlyfsTer24
XM_011535049.2:c.514del XP_011533351.1:p.Trp172GlyfsTer24
NM_004004.6:c.514del MANE Select NP_003995.2:p.Trp172GlyfsTer24