Canonical Allele Identifier: CA413380498

Gene: UBQLN2

Linked Data

• MyVariant Identifiers: chrX:g.56591703C>T (hg19) ; chrX:g.56565270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.56565270C>T , CM000685.2:g.56565270C>T	GRCh38
NC_000023.10:g.56591703C>T , CM000685.1:g.56591703C>T	GRCh37
NC_000023.9:g.56608428C>T	NCBI36
NG_016249.1:g.6678C>T , LRG_665:g.6678C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338222.7:c.1397C>T MANE Select	ENSP00000345195.5:p.Ala466Val
ENST00000338222.6:c.1397C>T	ENSP00000345195.5:p.Ala466Val
NM_013444.3:c.1397C>T , LRG_665t1:c.1397C>T	NP_038472.2:p.Ala466Val
XM_011530837.1:c.273+1530C>T	XP_011529139.1:n.273+1530C>T
NM_013444.4:c.1397C>T MANE Select	NP_038472.2:p.Ala466Val