Canonical Allele Identifier: CA277273
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 211079
ClinVar RCV Id: RCV000194203
dbSNP Id: rs797045596

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189256_20189271del , CM000675.2:g.20189256_20189271del GRCh38
NC_000013.10:g.20763395_20763410del , CM000675.1:g.20763395_20763410del GRCh37
NC_000013.9:g.19661395_19661410del NCBI36
NG_008358.1:g.8708_8723del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.314_329del ENSP00000372295.1:p.Lys105ArgfsTer2
ENST00000382848.5:c.314_329del MANE Select ENSP00000372299.4:p.Lys105ArgfsTer2
ENST00000382844.1:c.314_329del ENSP00000372295.1:p.Lys105ArgfsTer2
ENST00000382848.4:c.314_329del ENSP00000372299.4:p.Lys105ArgfsTer2
NM_004004.5:c.314_329del NP_003995.2:p.Lys105ArgfsTer2
XM_011535049.1:c.314_329del XP_011533351.1:p.Lys105ArgfsTer2
XM_011535049.2:c.314_329del XP_011533351.1:p.Lys105ArgfsTer2
NM_004004.6:c.314_329del MANE Select NP_003995.2:p.Lys105ArgfsTer2