Canonical Allele Identifier: CA2410905867

Gene: SCO2 NCAPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523729_50523740delinsATGGCAATGGAG , CM000684.2:g.50523729_50523740delinsATGGCAATGGAG	GRCh38
NC_000022.10:g.50962158_50962169delinsATGGCAATGGAG , CM000684.1:g.50962158_50962169delinsATGGCAATGGAG	GRCh37
NC_000022.9:g.49309024_49309035delinsATGGCAATGGAG	NCBI36
NG_016235.1:g.7700_7711delinsCTCCATTGCCAT
NG_021419.1:g.20514_20525delinsATGGCAATGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.672_683delinsCTCCATTGCCAT (SCO2) MANE Select	ENSP00000379046.4:p.His224=
ENST00000420993.7:c.*354_*365delinsATGGCAATGGAG (NCAPH2) MANE Select	ENSP00000410088.2:n.*354_*365delinsATGGCAATGGAG
ENST00000543927.6:c.672_683delinsCTCCATTGCCAT (SCO2)	ENSP00000444433.1:p.His224=
ENST00000252785.3:c.672_683delinsCTCCATTGCCAT	ENSP00000252785.3:p.His224=
ENST00000395693.7:c.672_683delinsCTCCATTGCCAT	ENSP00000379046.3:p.His224=
ENST00000535425.5:c.672_683delinsCTCCATTGCCAT	ENSP00000444242.1:p.His224=
ENST00000543927.5:c.672_683delinsCTCCATTGCCAT	ENSP00000444433.1:p.His224=
NM_001169109.1:c.672_683delinsCTCCATTGCCAT (SCO2)	NP_001162580.1:p.His224=
NM_001169110.1:c.672_683delinsCTCCATTGCCAT (SCO2)	NP_001162581.1:p.His224=
NM_001169111.1:c.672_683delinsCTCCATTGCCAT (SCO2)	NP_001162582.1:p.His224=
NM_001185011.1:c.*354_*365delinsATGGCAATGGAG (NCAPH2)	NP_001171940.1:n.*354_*365delinsATGGCAATGGAG
NM_005138.2:c.672_683delinsCTCCATTGCCAT (SCO2)	NP_005129.2:p.His224=
NM_152299.3:c.*354_*365delinsATGGCAATGGAG (NCAPH2)	NP_689512.2:n.*354_*365delinsATGGCAATGGAG
XR_001755232.1:n.2382_2393delinsATGGCAATGGAG (NCAPH2)
NM_152299.4:c.*354_*365delinsATGGCAATGGAG (NCAPH2) MANE Select	NP_689512.2:n.*354_*365delinsATGGCAATGGAG
NM_001185011.2:c.*354_*365delinsATGGCAATGGAG (NCAPH2)	NP_001171940.1:n.*354_*365delinsATGGCAATGGAG
NM_005138.3:c.672_683delinsCTCCATTGCCAT (SCO2) MANE Select	NP_005129.2:p.His224=
NM_001169109.2:c.672_683delinsCTCCATTGCCAT (SCO2)	NP_001162580.1:p.His224=
NM_001169111.2:c.672_683delinsCTCCATTGCCAT (SCO2)	NP_001162582.1:p.His224=