Canonical Allele Identifier: CA658799182

Gene: UBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34428484_34428490dup , CM000681.2:g.34428484_34428490dup	GRCh38
NC_000019.9:g.34919389_34919395dup , CM000681.1:g.34919389_34919395dup	GRCh37
NC_000019.8:g.39611229_39611235dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005499.3:c.52_58dup MANE Select	NP_005490.1:p.Val20GlyfsTer31
ENST00000246548.9:c.52_58dup MANE Select	ENSP00000246548.3:p.Val20GlyfsTer31
NM_005499.2:c.52_58dup	NP_005490.1:p.Val20GlyfsTer31
ENST00000246548.8:c.52_58dup	ENSP00000246548.3:p.Val20GlyfsTer31
ENST00000586313.1:c.52_58dup	ENSP00000468538.1:p.Val20GlyfsTer?
ENST00000590048.6:c.52_58dup	ENSP00000467433.2:p.Val20GlyfsTer?
ENST00000607361.5:c.52_58dup	ENSP00000475565.1:p.Val20GlyfsTer?
XM_005258404.2:c.294_300dup	XP_005258461.2:p.Cys101GlyfsTer?
XM_005258404.3:c.294_300dup	XP_005258461.2:p.Cys101GlyfsTer?
XM_006722962.1:c.52_58dup	XP_006723025.1:p.Val20GlyfsTer?
XM_006722962.2:c.52_58dup	XP_006723025.1:p.Val20GlyfsTer?
XM_011526304.1:c.294_300dup	XP_011524606.1:p.Cys101GlyfsTer?
XM_011526304.2:c.294_300dup	XP_011524606.1:p.Cys101GlyfsTer?
XM_017026134.1:c.294_300dup	XP_016881623.1:p.Cys101GlyfsTer?
XM_024451305.1:c.52_58dup	XP_024307073.1:p.Val20GlyfsTer31
XR_001753571.1:n.126_132dup
XR_935712.1:n.309_315dup
XR_935712.2:n.309_315dup