Canonical Allele Identifier: CA2819314656

Gene: SCO2 NCAPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523572A>C , CM000684.2:g.50523572A>C	GRCh38
NC_000022.10:g.50962001A>C , CM000684.1:g.50962001A>C	GRCh37
NC_000022.9:g.49308867A>C	NCBI36
NG_016235.1:g.7868T>G
NG_021419.1:g.20357A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.*39T>G (SCO2) MANE Select	ENSP00000379046.4:n.*39T>G
ENST00000420993.7:c.*197A>C (NCAPH2) MANE Select	ENSP00000410088.2:n.*197A>C
ENST00000395693.7:c.*39T>G	ENSP00000379046.3:n.*39T>G
ENST00000535425.5:c.*39T>G	ENSP00000444242.1:n.*39T>G
ENST00000543927.5:c.*39T>G	ENSP00000444433.1:n.*39T>G
NM_001169109.1:c.*39T>G (SCO2)	NP_001162580.1:n.*39T>G
NM_001169110.1:c.*39T>G (SCO2)	NP_001162581.1:n.*39T>G
NM_001169111.1:c.*39T>G (SCO2)	NP_001162582.1:n.*39T>G
NM_001185011.1:c.*197A>C (NCAPH2)	NP_001171940.1:n.*197A>C
NM_005138.2:c.*39T>G (SCO2)	NP_005129.2:n.*39T>G
NM_152299.3:c.*197A>C (NCAPH2)	NP_689512.2:n.*197A>C
XR_001755232.1:n.2225A>C (NCAPH2)
NM_152299.4:c.*197A>C (NCAPH2) MANE Select	NP_689512.2:n.*197A>C
NM_001185011.2:c.*197A>C (NCAPH2)	NP_001171940.1:n.*197A>C
NM_005138.3:c.*39T>G (SCO2) MANE Select	NP_005129.2:n.*39T>G
NM_001169109.2:c.*39T>G (SCO2)	NP_001162580.1:n.*39T>G
NM_001169111.2:c.*39T>G (SCO2)	NP_001162582.1:n.*39T>G