Canonical Allele Identifier: CA2573158277

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 1391854
• ClinVar RCV Id: RCV001893302 ; RCV002503513
• dbSNP Id: rs2148670938

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523761dup , CM000684.2:g.50523761dup	GRCh38
NC_000022.10:g.50962190dup , CM000684.1:g.50962190dup	GRCh37
NC_000022.9:g.49309056dup	NCBI36
NG_011860.1:g.11326dup , LRG_727:g.11326dup
NG_016235.1:g.7680dup
NG_021419.1:g.20546dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.652dup (SCO2) MANE Select	ENSP00000379046.4:p.Gln218ProfsTer17
ENST00000420993.7:c.*386dup (NCAPH2) MANE Select	ENSP00000410088.2:n.*386dup
ENST00000543927.6:c.652dup (SCO2)	ENSP00000444433.1:p.Gln218ProfsTer17
ENST00000252785.3:c.652dup	ENSP00000252785.3:p.Gln218ProfsTer17
ENST00000395693.7:c.652dup	ENSP00000379046.3:p.Gln218ProfsTer17
ENST00000535425.5:c.652dup	ENSP00000444242.1:p.Gln218ProfsTer17
ENST00000543927.5:c.652dup	ENSP00000444433.1:p.Gln218ProfsTer17
NM_001169109.1:c.652dup (SCO2)	NP_001162580.1:p.Gln218ProfsTer17
NM_001169110.1:c.652dup (SCO2)	NP_001162581.1:p.Gln218ProfsTer17
NM_001169111.1:c.652dup (SCO2)	NP_001162582.1:p.Gln218ProfsTer17
NM_001185011.1:c.*386dup (NCAPH2)	NP_001171940.1:n.*386dup
NM_005138.2:c.652dup (SCO2)	NP_005129.2:p.Gln218ProfsTer17
NM_152299.3:c.*386dup (NCAPH2)	NP_689512.2:n.*386dup
XR_001755232.1:n.2414dup (NCAPH2)
NM_152299.4:c.*386dup (NCAPH2) MANE Select	NP_689512.2:n.*386dup
NM_001185011.2:c.*386dup (NCAPH2)	NP_001171940.1:n.*386dup
NM_005138.3:c.652dup (SCO2) MANE Select	NP_005129.2:p.Gln218ProfsTer17
NM_001169109.2:c.652dup (SCO2)	NP_001162580.1:p.Gln218ProfsTer17
NM_001169111.2:c.652dup (SCO2)	NP_001162582.1:p.Gln218ProfsTer17