Canonical Allele Identifier: CA2580096793

Gene: UBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34458847dup , CM000681.2:g.34458847dup	GRCh38
NC_000019.9:g.34949752dup , CM000681.1:g.34949752dup	GRCh37
NC_000019.8:g.39641592dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005499.3:c.1324dup MANE Select	NP_005490.1:p.Tyr442LeufsTer17
ENST00000246548.9:c.1324dup MANE Select	ENSP00000246548.3:p.Tyr442LeufsTer17
NM_005499.2:c.1324dup	NP_005490.1:p.Tyr442LeufsTer17
ENST00000246548.8:c.1324dup	ENSP00000246548.3:p.Tyr442LeufsTer17
ENST00000439527.6:c.1036dup	ENSP00000437484.1:p.Tyr346LeufsTer17
ENST00000586313.1:c.*879dup	ENSP00000468538.1:n.*879dup
ENST00000591016.1:c.456-1623dup
ENST00000592791.1:c.-99dup	ENSP00000475656.1:n.-99dup
XM_005258404.2:c.1660dup	XP_005258461.2:p.Tyr554LeufsTer17
XM_005258404.3:c.1660dup	XP_005258461.2:p.Tyr554LeufsTer17
XM_006722962.1:c.1240dup	XP_006723025.1:p.Tyr414LeufsTer17
XM_006722962.2:c.1240dup	XP_006723025.1:p.Tyr414LeufsTer17
XM_011526304.1:c.1582-1623dup	XP_011524606.1:n.1582-1623dup
XM_011526304.2:c.1582-1623dup	XP_011524606.1:n.1582-1623dup
XM_017026134.1:c.1660dup	XP_016881623.1:p.Tyr554LeufsTer17
XM_024451305.1:c.1246-1623dup	XP_024307073.1:n.1246-1623dup
XR_001753571.1:n.1398dup
XR_935712.1:n.1675dup
XR_935712.2:n.1675dup