Canonical Allele Identifier: CA2410906011

Gene: SCO2 NCAPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523966_50523975delinsCGCACCACCT , CM000684.2:g.50523966_50523975delinsCGCACCACCT	GRCh38
NC_000022.10:g.50962395_50962404delinsCGCACCACCT , CM000684.1:g.50962395_50962404delinsCGCACCACCT	GRCh37
NC_000022.9:g.49309261_49309270delinsCGCACCACCT	NCBI36
NG_011860.1:g.11111_11120delinsAGGTGGTGCG , LRG_727:g.11111_11120delinsAGGTGGTGCG
NG_016235.1:g.7465_7474delinsAGGTGGTGCG
NG_021419.1:g.20751_20760delinsCGCACCACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.437_446delinsAGGTGGTGCG (SCO2) MANE Select	ENSP00000379046.4:p.Gln146=
ENST00000420993.7:c.*591_*600delinsCGCACCACCT (NCAPH2) MANE Select	ENSP00000410088.2:n.*591_*600delinsCGCACCACCT
ENST00000543927.6:c.437_446delinsAGGTGGTGCG (SCO2)	ENSP00000444433.1:p.Gln146=
ENST00000638598.2:c.437_446delinsAGGTGGTGCG (SCO2)	ENSP00000491753.2:p.Gln146=
ENST00000252785.3:c.437_446delinsAGGTGGTGCG	ENSP00000252785.3:p.Gln146=
ENST00000395693.7:c.437_446delinsAGGTGGTGCG	ENSP00000379046.3:p.Gln146=
ENST00000535425.5:c.437_446delinsAGGTGGTGCG	ENSP00000444242.1:p.Gln146=
ENST00000543927.5:c.437_446delinsAGGTGGTGCG	ENSP00000444433.1:p.Gln146=
NM_001169109.1:c.437_446delinsAGGTGGTGCG (SCO2)	NP_001162580.1:p.Gln146=
NM_001169110.1:c.437_446delinsAGGTGGTGCG (SCO2)	NP_001162581.1:p.Gln146=
NM_001169111.1:c.437_446delinsAGGTGGTGCG (SCO2)	NP_001162582.1:p.Gln146=
NM_001185011.1:c.*591_*600delinsCGCACCACCT (NCAPH2)	NP_001171940.1:n.*591_*600delinsCGCACCACCT
NM_005138.2:c.437_446delinsAGGTGGTGCG (SCO2)	NP_005129.2:p.Gln146=
NM_152299.3:c.*591_*600delinsCGCACCACCT (NCAPH2)	NP_689512.2:n.*591_*600delinsCGCACCACCT
XR_001755232.1:n.2619_2628delinsCGCACCACCT (NCAPH2)
NM_152299.4:c.*591_*600delinsCGCACCACCT (NCAPH2) MANE Select	NP_689512.2:n.*591_*600delinsCGCACCACCT
NM_001185011.2:c.*591_*600delinsCGCACCACCT (NCAPH2)	NP_001171940.1:n.*591_*600delinsCGCACCACCT
NM_005138.3:c.437_446delinsAGGTGGTGCG (SCO2) MANE Select	NP_005129.2:p.Gln146=
NM_001169109.2:c.437_446delinsAGGTGGTGCG (SCO2)	NP_001162580.1:p.Gln146=
NM_001169111.2:c.437_446delinsAGGTGGTGCG (SCO2)	NP_001162582.1:p.Gln146=