Canonical Allele Identifier: CA10430148
Gene: UBQLN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425500
ClinVar RCV Id: RCV000487760 RCV002526007
dbSNP Id: rs763761196
ExAC: X:56591624 C / A
gnomAD v2: X-56591624-C-A
gnomAD v3: X-56565191-C-A
gnomAD v4: X-56565191-C-A
MyVariant Identifiers: chrX:g.56591624C>A (hg19) chrX:g.56565191C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.56565191C>A , CM000685.2:g.56565191C>A GRCh38
NC_000023.10:g.56591624C>A , CM000685.1:g.56591624C>A GRCh37
NC_000023.9:g.56608349C>A NCBI36
NG_016249.1:g.6599C>A , LRG_665:g.6599C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000338222.7:c.1318C>A MANE Select ENSP00000345195.5:p.Pro440Thr
ENST00000338222.6:c.1318C>A ENSP00000345195.5:p.Pro440Thr
NM_013444.3:c.1318C>A , LRG_665t1:c.1318C>A NP_038472.2:p.Pro440Thr
XM_011530837.1:c.273+1451C>A XP_011529139.1:n.273+1451C>A
NM_013444.4:c.1318C>A MANE Select NP_038472.2:p.Pro440Thr
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