Canonical Allele Identifier: CA413380693
Gene: UBQLN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 995354
ClinVar RCV Id: RCV001289408
dbSNP Id: rs2068636097
MyVariant Identifiers: chrX:g.56591805C>A (hg19) chrX:g.56565372C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.56565372C>A , CM000685.2:g.56565372C>A GRCh38
NC_000023.10:g.56591805C>A , CM000685.1:g.56591805C>A GRCh37
NC_000023.9:g.56608530C>A NCBI36
NG_016249.1:g.6780C>A , LRG_665:g.6780C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338222.7:c.1499C>A MANE Select ENSP00000345195.5:p.Pro500His
ENST00000338222.6:c.1499C>A ENSP00000345195.5:p.Pro500His
NM_013444.3:c.1499C>A , LRG_665t1:c.1499C>A NP_038472.2:p.Pro500His
XM_011530837.1:c.273+1632C>A XP_011529139.1:n.273+1632C>A
NM_013444.4:c.1499C>A MANE Select NP_038472.2:p.Pro500His
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