Canonical Allele Identifier: CA413380679
Gene: UBQLN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.56565366T>G , CM000685.2:g.56565366T>G GRCh38
NC_000023.10:g.56591799T>G , CM000685.1:g.56591799T>G GRCh37
NC_000023.9:g.56608524T>G NCBI36
NG_016249.1:g.6774T>G , LRG_665:g.6774T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338222.7:c.1493T>G MANE Select ENSP00000345195.5:p.Ile498Arg
ENST00000338222.6:c.1493T>G ENSP00000345195.5:p.Ile498Arg
NM_013444.3:c.1493T>G , LRG_665t1:c.1493T>G NP_038472.2:p.Ile498Arg
XM_011530837.1:c.273+1626T>G XP_011529139.1:n.273+1626T>G
NM_013444.4:c.1493T>G MANE Select NP_038472.2:p.Ile498Arg