Canonical Allele Identifier: CA10430171

Gene: UBQLN2

Linked Data

• ClinVar Variation Id: 260311
• ClinVar RCV Id: RCV000241665 ; RCV000399814 ; RCV000547371 ; RCV001079580
• dbSNP Id: rs45559331
• ExAC: X:56591767 C / A
• gnomAD v2: X-56591767-C-A
• gnomAD v3: X-56565334-C-A
• gnomAD v4: X-56565334-C-A
• MyVariant Identifiers: chrX:g.56591767C>A (hg19) ; chrX:g.56565334C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.56565334C>A , CM000685.2:g.56565334C>A	GRCh38
NC_000023.10:g.56591767C>A , CM000685.1:g.56591767C>A	GRCh37
NC_000023.9:g.56608492C>A	NCBI36
NG_016249.1:g.6742C>A , LRG_665:g.6742C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338222.7:c.1461C>A MANE Select	ENSP00000345195.5:p.Thr487=
ENST00000338222.6:c.1461C>A	ENSP00000345195.5:p.Thr487=
NM_013444.3:c.1461C>A , LRG_665t1:c.1461C>A	NP_038472.2:p.Thr487=
XM_011530837.1:c.273+1594C>A	XP_011529139.1:n.273+1594C>A
NM_013444.4:c.1461C>A MANE Select	NP_038472.2:p.Thr487=