Canonical Allele Identifier: CA2577766318

Gene: SCO2 NCAPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523603del , CM000684.2:g.50523603del	GRCh38
NC_000022.10:g.50962032del , CM000684.1:g.50962032del	GRCh37
NC_000022.9:g.49308898del	NCBI36
NG_016235.1:g.7837del
NG_021419.1:g.20388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.*8del (SCO2) MANE Select	ENSP00000379046.4:n.*8del
ENST00000420993.7:c.*228del (NCAPH2) MANE Select	ENSP00000410088.2:n.*228del
ENST00000543927.6:c.*8del (SCO2)	ENSP00000444433.1:n.*8del
ENST00000252785.3:c.*8del	ENSP00000252785.3:n.*8del
ENST00000395693.7:c.*8del	ENSP00000379046.3:n.*8del
ENST00000535425.5:c.*8del	ENSP00000444242.1:n.*8del
ENST00000543927.5:c.*8del	ENSP00000444433.1:n.*8del
NM_001169109.1:c.*8del (SCO2)	NP_001162580.1:n.*8del
NM_001169110.1:c.*8del (SCO2)	NP_001162581.1:n.*8del
NM_001169111.1:c.*8del (SCO2)	NP_001162582.1:n.*8del
NM_001185011.1:c.*228del (NCAPH2)	NP_001171940.1:n.*228del
NM_005138.2:c.*8del (SCO2)	NP_005129.2:n.*8del
NM_152299.3:c.*228del (NCAPH2)	NP_689512.2:n.*228del
XR_001755232.1:n.2256del (NCAPH2)
NM_152299.4:c.*228del (NCAPH2) MANE Select	NP_689512.2:n.*228del
NM_001185011.2:c.*228del (NCAPH2)	NP_001171940.1:n.*228del
NM_005138.3:c.*8del (SCO2) MANE Select	NP_005129.2:n.*8del
NM_001169109.2:c.*8del (SCO2)	NP_001162580.1:n.*8del
NM_001169111.2:c.*8del (SCO2)	NP_001162582.1:n.*8del