Canonical Allele Identifier: CA259711

Gene: UBQLN2

Linked Data

• ClinVar Variation Id: 29954
• ClinVar RCV Id: RCV000022846 ; RCV000625776 ; RCV003944836 ; RCV003441723
• dbSNP Id: rs369947678
• ExAC: X:56591879 C / T
• gnomAD v2: X-56591879-C-T
• gnomAD v3: X-56565446-C-T
• gnomAD v4: X-56565446-C-T
• MyVariant Identifiers: chrX:g.56591879C>T (hg19) ; chrX:g.56565446C>T (hg38)
• PubMed: PMID:21857683 ; PMID:25333069

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.56565446C>T , CM000685.2:g.56565446C>T	GRCh38
NC_000023.10:g.56591879C>T , CM000685.1:g.56591879C>T	GRCh37
NC_000023.9:g.56608604C>T	NCBI36
NG_016249.1:g.6854C>T , LRG_665:g.6854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338222.7:c.1573C>T MANE Select	ENSP00000345195.5:p.Pro525Ser
ENST00000338222.6:c.1573C>T	ENSP00000345195.5:p.Pro525Ser
NM_013444.3:c.1573C>T , LRG_665t1:c.1573C>T	NP_038472.2:p.Pro525Ser
XM_011530837.1:c.273+1706C>T	XP_011529139.1:n.273+1706C>T
NM_013444.4:c.1573C>T MANE Select	NP_038472.2:p.Pro525Ser