Canonical Allele Identifier: CA172238
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs587783646

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188952_20188953del , CM000675.2:g.20188952_20188953del GRCh38
NC_000013.10:g.20763091_20763092del , CM000675.1:g.20763091_20763092del GRCh37
NC_000013.9:g.19661091_19661092del NCBI36
NG_008358.1:g.9026_9027del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.632_633del ENSP00000372295.1:p.Cys211LeufsTer5
ENST00000382848.5:c.632_633del MANE Select ENSP00000372299.4:p.Cys211LeufsTer5
ENST00000382844.1:c.632_633del ENSP00000372295.1:p.Cys211LeufsTer5
ENST00000382848.4:c.632_633del ENSP00000372299.4:p.Cys211LeufsTer5
NM_004004.5:c.632_633del NP_003995.2:p.Cys211LeufsTer5
XM_011535049.1:c.632_633del XP_011533351.1:p.Cys211LeufsTer5
XM_011535049.2:c.632_633del XP_011533351.1:p.Cys211LeufsTer5
NM_004004.6:c.632_633del MANE Select NP_003995.2:p.Cys211LeufsTer5