Canonical Allele Identifier: CA2580613103

Gene: UBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34454339del , CM000681.2:g.34454339del	GRCh38
NC_000019.9:g.34945244del , CM000681.1:g.34945244del	GRCh37
NC_000019.8:g.39637084del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005499.3:c.1118del MANE Select	NP_005490.1:p.Arg373AsnfsTer21
ENST00000246548.9:c.1118del MANE Select	ENSP00000246548.3:p.Arg373AsnfsTer21
NM_005499.2:c.1118del	NP_005490.1:p.Arg373AsnfsTer21
ENST00000246548.8:c.1118del	ENSP00000246548.3:p.Arg373AsnfsTer21
ENST00000439527.6:c.830del	ENSP00000437484.1:p.Arg277AsnfsTer21
ENST00000586313.1:c.*673del	ENSP00000468538.1:n.*673del
ENST00000591016.1:c.328del
XM_005258404.2:c.1454del	XP_005258461.2:p.Arg485AsnfsTer21
XM_005258404.3:c.1454del	XP_005258461.2:p.Arg485AsnfsTer21
XM_006722962.1:c.1034del	XP_006723025.1:p.Arg345AsnfsTer21
XM_006722962.2:c.1034del	XP_006723025.1:p.Arg345AsnfsTer21
XM_011526304.1:c.1454del	XP_011524606.1:p.Arg485AsnfsTer21
XM_011526304.2:c.1454del	XP_011524606.1:p.Arg485AsnfsTer21
XM_017026134.1:c.1454del	XP_016881623.1:p.Arg485AsnfsTer21
XM_024451305.1:c.1118del	XP_024307073.1:p.Arg373AsnfsTer21
XR_001753571.1:n.1192del
XR_935712.1:n.1469del
XR_935712.2:n.1469del