Canonical Allele Identifier: CA2580096794

Gene: UBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34433381del , CM000681.2:g.34433381del	GRCh38
NC_000019.9:g.34924286del , CM000681.1:g.34924286del	GRCh37
NC_000019.8:g.39616126del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005499.3:c.327del MANE Select	NP_005490.1:p.Phe109LeufsTer5
ENST00000246548.9:c.327del MANE Select	ENSP00000246548.3:p.Phe109LeufsTer5
NM_005499.2:c.327del	NP_005490.1:p.Phe109LeufsTer5
ENST00000246548.8:c.327del	ENSP00000246548.3:p.Phe109LeufsTer5
ENST00000439527.6:c.39del	ENSP00000437484.1:p.Phe13LeufsTer5
ENST00000586313.1:c.139-1487del	ENSP00000468538.1:n.139-1487del
ENST00000590048.6:c.243del	ENSP00000467433.2:p.Phe81LeufsTer5
ENST00000592672.2:n.122del
ENST00000607361.5:c.*256del	ENSP00000475565.1:n.*256del
XM_005258404.2:c.663del	XP_005258461.2:p.Phe221LeufsTer5
XM_005258404.3:c.663del	XP_005258461.2:p.Phe221LeufsTer5
XM_006722962.1:c.243del	XP_006723025.1:p.Phe81LeufsTer5
XM_006722962.2:c.243del	XP_006723025.1:p.Phe81LeufsTer5
XM_011526304.1:c.663del	XP_011524606.1:p.Phe221LeufsTer5
XM_011526304.2:c.663del	XP_011524606.1:p.Phe221LeufsTer5
XM_017026134.1:c.663del	XP_016881623.1:p.Phe221LeufsTer5
XM_024451305.1:c.327del	XP_024307073.1:p.Phe109LeufsTer5
XR_001753571.1:n.401del
XR_935712.1:n.678del
XR_935712.2:n.678del