Canonical Allele Identifier: CA2622252257
Gene: GJB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188997del , CM000675.2:g.20188997del GRCh38
NC_000013.10:g.20763136del , CM000675.1:g.20763136del GRCh37
NC_000013.9:g.19661136del NCBI36
NG_008358.1:g.8979del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.585del ENSP00000372295.1:p.Met195IlefsTer11
ENST00000382848.5:c.585del MANE Select ENSP00000372299.4:p.Met195IlefsTer11
ENST00000382844.1:c.585del ENSP00000372295.1:p.Met195IlefsTer11
ENST00000382848.4:c.585del ENSP00000372299.4:p.Met195IlefsTer11
NM_004004.5:c.585del NP_003995.2:p.Met195IlefsTer11
XM_011535049.1:c.585del XP_011533351.1:p.Met195IlefsTer11
XM_011535049.2:c.585del XP_011533351.1:p.Met195IlefsTer11
NM_004004.6:c.585del MANE Select NP_003995.2:p.Met195IlefsTer11