Canonical Allele Identifier: CA413380686
Gene: UBQLN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.56565369G>C , CM000685.2:g.56565369G>C GRCh38
NC_000023.10:g.56591802G>C , CM000685.1:g.56591802G>C GRCh37
NC_000023.9:g.56608527G>C NCBI36
NG_016249.1:g.6777G>C , LRG_665:g.6777G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338222.7:c.1496G>C MANE Select ENSP00000345195.5:p.Gly499Ala
ENST00000338222.6:c.1496G>C ENSP00000345195.5:p.Gly499Ala
NM_013444.3:c.1496G>C , LRG_665t1:c.1496G>C NP_038472.2:p.Gly499Ala
XM_011530837.1:c.273+1629G>C XP_011529139.1:n.273+1629G>C
NM_013444.4:c.1496G>C MANE Select NP_038472.2:p.Gly499Ala