Canonical Allele Identifier: CA405255563

Gene: UBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34450293T>A , CM000681.2:g.34450293T>A	GRCh38
NC_000019.9:g.34941198T>A , CM000681.1:g.34941198T>A	GRCh37
NC_000019.8:g.39633038T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005499.3:c.800T>A MANE Select	NP_005490.1:p.Leu267Ter
ENST00000246548.9:c.800T>A MANE Select	ENSP00000246548.3:p.Leu267Ter
NM_005499.2:c.800T>A	NP_005490.1:p.Leu267Ter
ENST00000246548.8:c.800T>A	ENSP00000246548.3:p.Leu267Ter
ENST00000439527.6:c.512T>A	ENSP00000437484.1:p.Leu171Ter
ENST00000586313.1:c.*355T>A	ENSP00000468538.1:n.*355T>A
ENST00000590048.6:c.716T>A	ENSP00000467433.2:p.Leu239Ter
ENST00000591016.1:c.10T>A
XM_005258404.2:c.1136T>A	XP_005258461.2:p.Leu379Ter
XM_005258404.3:c.1136T>A	XP_005258461.2:p.Leu379Ter
XM_006722962.1:c.716T>A	XP_006723025.1:p.Leu239Ter
XM_006722962.2:c.716T>A	XP_006723025.1:p.Leu239Ter
XM_011526304.1:c.1136T>A	XP_011524606.1:p.Leu379Ter
XM_011526304.2:c.1136T>A	XP_011524606.1:p.Leu379Ter
XM_017026134.1:c.1136T>A	XP_016881623.1:p.Leu379Ter
XM_024451305.1:c.800T>A	XP_024307073.1:p.Leu267Ter
XR_001753571.1:n.874T>A
XR_935712.1:n.1151T>A
XR_935712.2:n.1151T>A