Canonical Allele Identifier: CA2581828807

Gene: UPP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.158121282A>C , CM000664.2:g.158121282A>C	GRCh38
NC_000002.11:g.158977794A>C , CM000664.1:g.158977794A>C	GRCh37
NC_000002.10:g.158686040A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_173355.4:c.455-127A>C MANE Select	NP_775491.1:n.455-127A>C
ENST00000005756.5:c.455-127A>C MANE Select	ENSP00000005756.5:n.455-127A>C
NM_001135098.1:c.626-127A>C	NP_001128570.1:n.626-127A>C
NM_001135098.2:c.626-127A>C	NP_001128570.1:n.626-127A>C
NM_173355.3:c.455-127A>C	NP_775491.1:n.455-127A>C
ENST00000005756.4:c.455-127A>C	ENSP00000005756.4:n.455-127A>C
ENST00000460456.1:n.377-2467A>C
ENST00000605860.5:c.626-127A>C	ENSP00000474090.1:n.626-127A>C
XM_005246359.2:c.455-127A>C	XP_005246416.1:n.455-127A>C
XM_005246359.3:c.455-127A>C	XP_005246416.1:n.455-127A>C
XM_017003484.1:c.455-127A>C	XP_016858973.1:n.455-127A>C
XR_001738652.1:n.649-127A>C
XR_922880.1:n.649-127A>C
XR_922880.2:n.649-127A>C
XR_922881.1:n.649-127A>C
XR_922881.2:n.649-127A>C