Canonical Allele Identifier: CA413380505
Gene: UBQLN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.56565275G>A , CM000685.2:g.56565275G>A GRCh38
NC_000023.10:g.56591708G>A , CM000685.1:g.56591708G>A GRCh37
NC_000023.9:g.56608433G>A NCBI36
NG_016249.1:g.6683G>A , LRG_665:g.6683G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338222.7:c.1402G>A MANE Select ENSP00000345195.5:p.Glu468Lys
ENST00000338222.6:c.1402G>A ENSP00000345195.5:p.Glu468Lys
NM_013444.3:c.1402G>A , LRG_665t1:c.1402G>A NP_038472.2:p.Glu468Lys
XM_011530837.1:c.273+1535G>A XP_011529139.1:n.273+1535G>A
NM_013444.4:c.1402G>A MANE Select NP_038472.2:p.Glu468Lys