Canonical Allele Identifier: CA259705
Gene: UBQLN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 29951
ClinVar RCV Id: RCV000022843
dbSNP Id: rs387906710

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.56565362C>T , CM000685.2:g.56565362C>T GRCh38
NC_000023.10:g.56591795C>T , CM000685.1:g.56591795C>T GRCh37
NC_000023.9:g.56608520C>T NCBI36
NG_016249.1:g.6770C>T , LRG_665:g.6770C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338222.7:c.1489C>T MANE Select ENSP00000345195.5:p.Pro497Ser
ENST00000338222.6:c.1489C>T ENSP00000345195.5:p.Pro497Ser
NM_013444.3:c.1489C>T , LRG_665t1:c.1489C>T NP_038472.2:p.Pro497Ser
XM_011530837.1:c.273+1622C>T XP_011529139.1:n.273+1622C>T
NM_013444.4:c.1489C>T MANE Select NP_038472.2:p.Pro497Ser