Canonical Allele Identifier: CA413380493

Gene: UBQLN2

Linked Data

• MyVariant Identifiers: chrX:g.56591701A>T (hg19) ; chrX:g.56565268A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.56565268A>T , CM000685.2:g.56565268A>T	GRCh38
NC_000023.10:g.56591701A>T , CM000685.1:g.56591701A>T	GRCh37
NC_000023.9:g.56608426A>T	NCBI36
NG_016249.1:g.6676A>T , LRG_665:g.6676A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000338222.7:c.1395A>T MANE Select	ENSP00000345195.5:p.Leu465Phe
ENST00000338222.6:c.1395A>T	ENSP00000345195.5:p.Leu465Phe
NM_013444.3:c.1395A>T , LRG_665t1:c.1395A>T	NP_038472.2:p.Leu465Phe
XM_011530837.1:c.273+1528A>T	XP_011529139.1:n.273+1528A>T
NM_013444.4:c.1395A>T MANE Select	NP_038472.2:p.Leu465Phe