Canonical Allele Identifier: CA9368126

Gene: UBA2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34450313C>T , CM000681.2:g.34450313C>T	GRCh38
NC_000019.9:g.34941218C>T , CM000681.1:g.34941218C>T	GRCh37
NC_000019.8:g.39633058C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005499.3:c.820C>T MANE Select	NP_005490.1:p.Arg274Trp
ENST00000246548.9:c.820C>T MANE Select	ENSP00000246548.3:p.Arg274Trp
NM_005499.2:c.820C>T	NP_005490.1:p.Arg274Trp
ENST00000246548.8:c.820C>T	ENSP00000246548.3:p.Arg274Trp
ENST00000439527.6:c.532C>T	ENSP00000437484.1:p.Arg178Trp
ENST00000586313.1:c.*375C>T	ENSP00000468538.1:n.*375C>T
ENST00000590048.6:c.736C>T	ENSP00000467433.2:p.Arg246Trp
ENST00000591016.1:c.30C>T
XM_005258404.2:c.1156C>T	XP_005258461.2:p.Arg386Trp
XM_005258404.3:c.1156C>T	XP_005258461.2:p.Arg386Trp
XM_006722962.1:c.736C>T	XP_006723025.1:p.Arg246Trp
XM_006722962.2:c.736C>T	XP_006723025.1:p.Arg246Trp
XM_011526304.1:c.1156C>T	XP_011524606.1:p.Arg386Trp
XM_011526304.2:c.1156C>T	XP_011524606.1:p.Arg386Trp
XM_017026134.1:c.1156C>T	XP_016881623.1:p.Arg386Trp
XM_024451305.1:c.820C>T	XP_024307073.1:p.Arg274Trp
XR_001753571.1:n.894C>T
XR_935712.1:n.1171C>T
XR_935712.2:n.1171C>T