Canonical Allele Identifier: CA405257904

Gene: UBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34460515G>A , CM000681.2:g.34460515G>A	GRCh38
NC_000019.9:g.34951420G>A , CM000681.1:g.34951420G>A	GRCh37
NC_000019.8:g.39643260G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005499.3:c.1447G>A MANE Select	NP_005490.1:p.Glu483Lys
ENST00000246548.9:c.1447G>A MANE Select	ENSP00000246548.3:p.Glu483Lys
NM_005499.2:c.1447G>A	NP_005490.1:p.Glu483Lys
ENST00000246548.8:c.1447G>A	ENSP00000246548.3:p.Glu483Lys
ENST00000439527.6:c.1159G>A	ENSP00000437484.1:p.Glu387Lys
ENST00000586313.1:c.*1002G>A	ENSP00000468538.1:n.*1002G>A
ENST00000591016.1:c.501G>A
ENST00000592791.1:c.25G>A	ENSP00000475656.1:p.Glu9Lys
XM_005258404.2:c.1783G>A	XP_005258461.2:p.Glu595Lys
XM_005258404.3:c.1783G>A	XP_005258461.2:p.Glu595Lys
XM_006722962.1:c.1363G>A	XP_006723025.1:p.Glu455Lys
XM_006722962.2:c.1363G>A	XP_006723025.1:p.Glu455Lys
XM_011526304.1:c.1627G>A	XP_011524606.1:p.Glu543Lys
XM_011526304.2:c.1627G>A	XP_011524606.1:p.Glu543Lys
XM_017026134.1:c.1737+1591G>A	XP_016881623.1:n.1737+1591G>A
XM_024451305.1:c.1291G>A	XP_024307073.1:p.Glu431Lys
XR_001753571.1:n.1475+1591G>A
XR_935712.1:n.1752+1591G>A
XR_935712.2:n.1752+1591G>A