Canonical Allele Identifier: CA405255016

Gene: UBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34443912G>A , CM000681.2:g.34443912G>A	GRCh38
NC_000019.9:g.34934817G>A , CM000681.1:g.34934817G>A	GRCh37
NC_000019.8:g.39626657G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005499.3:c.649+1G>A MANE Select	NP_005490.1:n.649+1G>A
ENST00000246548.9:c.649+1G>A MANE Select	ENSP00000246548.3:n.649+1G>A
NM_005499.2:c.649+1G>A	NP_005490.1:n.649+1G>A
ENST00000246548.8:c.649+1G>A	ENSP00000246548.3:n.649+1G>A
ENST00000439527.6:c.361+1G>A	ENSP00000437484.1:n.361+1G>A
ENST00000586313.1:c.*204+1G>A	ENSP00000468538.1:n.*204+1G>A
ENST00000590048.6:c.565+1G>A	ENSP00000467433.2:n.565+1G>A
XM_005258404.2:c.985+1G>A	XP_005258461.2:n.985+1G>A
XM_005258404.3:c.985+1G>A	XP_005258461.2:n.985+1G>A
XM_006722962.1:c.565+1G>A	XP_006723025.1:n.565+1G>A
XM_006722962.2:c.565+1G>A	XP_006723025.1:n.565+1G>A
XM_011526304.1:c.985+1G>A	XP_011524606.1:n.985+1G>A
XM_011526304.2:c.985+1G>A	XP_011524606.1:n.985+1G>A
XM_017026134.1:c.985+1G>A	XP_016881623.1:n.985+1G>A
XM_024451305.1:c.649+1G>A	XP_024307073.1:n.649+1G>A
XR_001753571.1:n.723+1G>A
XR_935712.1:n.1000+1G>A
XR_935712.2:n.1000+1G>A