Canonical Allele Identifier: CA919221204
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1566527665
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20187748_20187751del , CM000675.2:g.20187748_20187751del GRCh38
NC_000013.10:g.20761887_20761890del , CM000675.1:g.20761887_20761890del GRCh37
NC_000013.9:g.19659887_19659890del NCBI36
NG_008358.1:g.10227_10230del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*1152_*1155del ENSP00000372295.1:n.*1152_*1155del
ENST00000382848.5:c.*1152_*1155del MANE Select ENSP00000372299.4:n.*1152_*1155del
ENST00000382844.1:c.*1152_*1155del ENSP00000372295.1:n.*1152_*1155del
ENST00000382848.4:c.*1152_*1155del ENSP00000372299.4:n.*1152_*1155del
NM_004004.5:c.*1152_*1155del NP_003995.2:n.*1152_*1155del
XM_011535049.1:c.*1152_*1155del XP_011533351.1:n.*1152_*1155del
XM_011535049.2:c.*1152_*1155del XP_011533351.1:n.*1152_*1155del
NM_004004.6:c.*1152_*1155del MANE Select NP_003995.2:n.*1152_*1155del
Search 100 bp 5'
Search 100 bp 3'