Canonical Allele Identifier: CA2410905801

Gene: SCO2 NCAPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523619G= , CM000684.2:g.50523619G=	GRCh38
NC_000022.10:g.50962048G= , CM000684.1:g.50962048G=	GRCh37
NC_000022.9:g.49308914G=	NCBI36
NG_016235.1:g.7821C=
NG_021419.1:g.20404G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000395693.8:c.793C= (SCO2) MANE Select	ENSP00000379046.4:p.Leu265=
ENST00000420993.7:c.*244G= (NCAPH2) MANE Select	ENSP00000410088.2:n.*244G=
ENST00000543927.6:c.793C= (SCO2)	ENSP00000444433.1:p.Leu265=
ENST00000252785.3:c.793C=	ENSP00000252785.3:p.Leu265=
ENST00000395693.7:c.793C=	ENSP00000379046.3:p.Leu265=
ENST00000535425.5:c.793C=	ENSP00000444242.1:p.Leu265=
ENST00000543927.5:c.793C=	ENSP00000444433.1:p.Leu265=
NM_001169109.1:c.793C= (SCO2)	NP_001162580.1:p.Leu265=
NM_001169110.1:c.793C= (SCO2)	NP_001162581.1:p.Leu265=
NM_001169111.1:c.793C= (SCO2)	NP_001162582.1:p.Leu265=
NM_001185011.1:c.*244G= (NCAPH2)	NP_001171940.1:n.*244G=
NM_005138.2:c.793C= (SCO2)	NP_005129.2:p.Leu265=
NM_152299.3:c.*244G= (NCAPH2)	NP_689512.2:n.*244G=
XR_001755232.1:n.2272G= (NCAPH2)
NM_152299.4:c.*244G= (NCAPH2) MANE Select	NP_689512.2:n.*244G=
NM_001185011.2:c.*244G= (NCAPH2)	NP_001171940.1:n.*244G=
NM_005138.3:c.793C= (SCO2) MANE Select	NP_005129.2:p.Leu265=
NM_001169109.2:c.793C= (SCO2)	NP_001162580.1:p.Leu265=
NM_001169111.2:c.793C= (SCO2)	NP_001162582.1:p.Leu265=