Canonical Allele Identifier: CA2589948372
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs2137306177

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188308del , CM000675.2:g.20188308del GRCh38
NC_000013.10:g.20762447del , CM000675.1:g.20762447del GRCh37
NC_000013.9:g.19660447del NCBI36
NG_008358.1:g.9668del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*593del ENSP00000372295.1:n.*593del
ENST00000382848.5:c.*593del MANE Select ENSP00000372299.4:n.*593del
ENST00000382844.1:c.*593del ENSP00000372295.1:n.*593del
ENST00000382848.4:c.*593del ENSP00000372299.4:n.*593del
NM_004004.5:c.*593del NP_003995.2:n.*593del
XM_011535049.1:c.*593del XP_011533351.1:n.*593del
XM_011535049.2:c.*593del XP_011533351.1:n.*593del
NM_004004.6:c.*593del MANE Select NP_003995.2:n.*593del