Canonical Allele Identifier: CA10430158

Gene: UBQLN2

Linked Data

• ClinVar Variation Id: 368609
• ClinVar RCV Id: RCV000336836 ; RCV000649034 ; RCV001288936 ; RCV001580013
• dbSNP Id: rs142250604
• ExAC: X:56591689 G / A
• gnomAD v2: X-56591689-G-A
• gnomAD v3: X-56565256-G-A
• gnomAD v4: X-56565256-G-A
• MyVariant Identifiers: chrX:g.56591689G>A (hg19) ; chrX:g.56565256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.56565256G>A , CM000685.2:g.56565256G>A	GRCh38
NC_000023.10:g.56591689G>A , CM000685.1:g.56591689G>A	GRCh37
NC_000023.9:g.56608414G>A	NCBI36
NG_016249.1:g.6664G>A , LRG_665:g.6664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338222.7:c.1383G>A MANE Select	ENSP00000345195.5:p.Gly461=
ENST00000338222.6:c.1383G>A	ENSP00000345195.5:p.Gly461=
NM_013444.3:c.1383G>A , LRG_665t1:c.1383G>A	NP_038472.2:p.Gly461=
XM_011530837.1:c.273+1516G>A	XP_011529139.1:n.273+1516G>A
NM_013444.4:c.1383G>A MANE Select	NP_038472.2:p.Gly461=