Canonical Allele Identifier: CA10321115

Gene: SCO2 NCAPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523657_50523660del , CM000684.2:g.50523657_50523660del	GRCh38
NC_000022.10:g.50962086_50962089del , CM000684.1:g.50962086_50962089del	GRCh37
NC_000022.9:g.49308952_49308955del	NCBI36
NG_016235.1:g.7783_7786del
NG_021419.1:g.20442_20445del

Transcript Alleles

HGVS	Amino-acid Change
NM_005138.3:c.755_758del (SCO2) MANE Select	NP_005129.2:p.Asp252ValfsTer24
NM_152299.4:c.*282_*285del (NCAPH2) MANE Select	NP_689512.2:n.*282_*285del
ENST00000395693.8:c.755_758del (SCO2) MANE Select	ENSP00000379046.4:p.Asp252ValfsTer24
ENST00000420993.7:c.*282_*285del (NCAPH2) MANE Select	ENSP00000410088.2:n.*282_*285del
NM_001169109.1:c.755_758del (SCO2)	NP_001162580.1:p.Asp252ValfsTer24
NM_001169109.2:c.755_758del (SCO2)	NP_001162580.1:p.Asp252ValfsTer24
NM_001169110.1:c.755_758del (SCO2)	NP_001162581.1:p.Asp252ValfsTer24
NM_001169111.1:c.755_758del (SCO2)	NP_001162582.1:p.Asp252ValfsTer24
NM_001169111.2:c.755_758del (SCO2)	NP_001162582.1:p.Asp252ValfsTer24
NM_001185011.1:c.*282_*285del (NCAPH2)	NP_001171940.1:n.*282_*285del
NM_001185011.2:c.*282_*285del (NCAPH2)	NP_001171940.1:n.*282_*285del
NM_005138.2:c.755_758del (SCO2)	NP_005129.2:p.Asp252ValfsTer24
NM_152299.3:c.*282_*285del (NCAPH2)	NP_689512.2:n.*282_*285del
ENST00000252785.3:c.755_758del	ENSP00000252785.3:p.Asp252ValfsTer?
ENST00000395693.7:c.755_758del	ENSP00000379046.3:p.Asp252ValfsTer24
ENST00000535425.5:c.755_758del	ENSP00000444242.1:p.Asp252ValfsTer24
ENST00000543927.5:c.755_758del	ENSP00000444433.1:p.Asp252ValfsTer24
ENST00000543927.6:c.755_758del (SCO2)	ENSP00000444433.1:p.Asp252ValfsTer24
XR_001755232.1:n.2310_2313del (NCAPH2)