Canonical Allele Identifier: CA405256985

Gene: UBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34454497G>A , CM000681.2:g.34454497G>A	GRCh38
NC_000019.9:g.34945402G>A , CM000681.1:g.34945402G>A	GRCh37
NC_000019.8:g.39637242G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246548.9:c.1186G>A MANE Select	ENSP00000246548.3:p.Gly396Arg
ENST00000246548.8:c.1186G>A	ENSP00000246548.3:p.Gly396Arg
ENST00000439527.6:c.898G>A	ENSP00000437484.1:p.Gly300Arg
ENST00000586313.1:c.*741G>A	ENSP00000468538.1:n.*741G>A
ENST00000591016.1:c.396G>A
NM_005499.2:c.1186G>A	NP_005490.1:p.Gly396Arg
XM_005258404.2:c.1522G>A	XP_005258461.2:p.Gly508Arg
XM_006722962.1:c.1102G>A	XP_006723025.1:p.Gly368Arg
XM_011526304.1:c.1522G>A	XP_011524606.1:p.Gly508Arg
XR_935712.1:n.1537G>A
XM_005258404.3:c.1522G>A	XP_005258461.2:p.Gly508Arg
XM_006722962.2:c.1102G>A	XP_006723025.1:p.Gly368Arg
XM_011526304.2:c.1522G>A	XP_011524606.1:p.Gly508Arg
XM_017026134.1:c.1522G>A	XP_016881623.1:p.Gly508Arg
XM_024451305.1:c.1186G>A	XP_024307073.1:p.Gly396Arg
XR_001753571.1:n.1260G>A
XR_935712.2:n.1537G>A
NM_005499.3:c.1186G>A MANE Select	NP_005490.1:p.Gly396Arg