Canonical Allele Identifier: CA658823446
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 556456
ClinVar RCV Id: RCV000672467
dbSNP Id: rs1555341874

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189098_20189139del , CM000675.2:g.20189098_20189139del GRCh38
NC_000013.10:g.20763237_20763278del , CM000675.1:g.20763237_20763278del GRCh37
NC_000013.9:g.19661237_19661278del NCBI36
NG_008358.1:g.8839_8880del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.445_486del ENSP00000372295.1:p.Ala149_Ser162del
ENST00000382848.5:c.445_486del MANE Select ENSP00000372299.4:p.Ala149_Ser162del
ENST00000382844.1:c.445_486del ENSP00000372295.1:p.Ala149_Ser162del
ENST00000382848.4:c.445_486del ENSP00000372299.4:p.Ala149_Ser162del
NM_004004.5:c.445_486del NP_003995.2:p.Ala149_Ser162del
XM_011535049.1:c.445_486del XP_011533351.1:p.Ala149_Ser162del
XM_011535049.2:c.445_486del XP_011533351.1:p.Ala149_Ser162del
NM_004004.6:c.445_486del MANE Select NP_003995.2:p.Ala149_Ser162del