Canonical Allele Identifier: CA172217
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17010
dbSNP Id: rs80338942

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189415del , CM000675.2:g.20189415del GRCh38
NC_000013.10:g.20763554del , CM000675.1:g.20763554del GRCh37
NC_000013.9:g.19661554del NCBI36
NG_008358.1:g.8561del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.167del ENSP00000372295.1:p.Leu56ArgfsTer26
ENST00000382848.5:c.167del MANE Select ENSP00000372299.4:p.Leu56ArgfsTer26
ENST00000382844.1:c.167del ENSP00000372295.1:p.Leu56ArgfsTer26
ENST00000382848.4:c.167del ENSP00000372299.4:p.Leu56ArgfsTer26
NM_004004.5:c.167del NP_003995.2:p.Leu56ArgfsTer26
XM_011535049.1:c.167del XP_011533351.1:p.Leu56ArgfsTer26
XM_011535049.2:c.167del XP_011533351.1:p.Leu56ArgfsTer26
NM_004004.6:c.167del MANE Select NP_003995.2:p.Leu56ArgfsTer26