Canonical Allele Identifier: CA10430051

Gene: UBQLN2

Linked Data

• ClinVar Variation Id: 368607
• ClinVar RCV Id: RCV000385557 ; RCV001167821
• dbSNP Id: rs778382794
• ExAC: X:56590549 A / G
• gnomAD v2: X-56590549-A-G
• gnomAD v3: X-56564116-A-G
• gnomAD v4: X-56564116-A-G
• MyVariant Identifiers: chrX:g.56590549A>G (hg19) ; chrX:g.56564116A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.56564116A>G , CM000685.2:g.56564116A>G	GRCh38
NC_000023.10:g.56590549A>G , CM000685.1:g.56590549A>G	GRCh37
NC_000023.9:g.56607274A>G	NCBI36
NG_016249.1:g.5524A>G , LRG_665:g.5524A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338222.7:c.243A>G MANE Select	ENSP00000345195.5:p.Leu81=
ENST00000338222.6:c.243A>G	ENSP00000345195.5:p.Leu81=
NM_013444.3:c.243A>G , LRG_665t1:c.243A>G	NP_038472.2:p.Leu81=
XM_011530837.1:c.273+376A>G	XP_011529139.1:n.273+376A>G
NM_013444.4:c.243A>G MANE Select	NP_038472.2:p.Leu81=