Canonical Allele Identifier: CA2580099987

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 1962506
• ClinVar RCV Id: RCV002726183

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524189_50524190delinsCC , CM000684.2:g.50524189_50524190delinsCC	GRCh38
NC_000022.10:g.50962618_50962619delinsCC , CM000684.1:g.50962618_50962619delinsCC	GRCh37
NC_000022.9:g.49309484_49309485delinsCC	NCBI36
NG_011860.1:g.10896_10897delinsGG , LRG_727:g.10896_10897delinsGG
NG_016235.1:g.7250_7251delinsGG
NG_021419.1:g.20974_20975delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.222_223delinsGG (SCO2) MANE Select	ENSP00000379046.4:p.Trp75Gly
ENST00000420993.7:c.*814_*815delinsCC (NCAPH2) MANE Select	ENSP00000410088.2:n.*814_*815delinsCC
ENST00000543927.6:c.222_223delinsGG (SCO2)	ENSP00000444433.1:p.Trp75Gly
ENST00000638598.2:c.222_223delinsGG (SCO2)	ENSP00000491753.2:p.Trp75Gly
ENST00000252785.3:c.222_223delinsGG	ENSP00000252785.3:p.Trp75Gly
ENST00000395693.7:c.222_223delinsGG	ENSP00000379046.3:p.Trp75Gly
ENST00000423348.1:c.222_223delinsGG	ENSP00000403570.1:p.Trp75Gly
ENST00000439934.5:c.222_223delinsGG	ENSP00000415642.1:p.Trp75Gly
ENST00000535425.5:c.222_223delinsGG	ENSP00000444242.1:p.Trp75Gly
ENST00000543927.5:c.222_223delinsGG	ENSP00000444433.1:p.Trp75Gly
NM_001169109.1:c.222_223delinsGG (SCO2)	NP_001162580.1:p.Trp75Gly
NM_001169110.1:c.222_223delinsGG (SCO2)	NP_001162581.1:p.Trp75Gly
NM_001169111.1:c.222_223delinsGG (SCO2)	NP_001162582.1:p.Trp75Gly
NM_001185011.1:c.*814_*815delinsCC (NCAPH2)	NP_001171940.1:n.*814_*815delinsCC
NM_005138.2:c.222_223delinsGG (SCO2)	NP_005129.2:p.Trp75Gly
NM_152299.3:c.*814_*815delinsCC (NCAPH2)	NP_689512.2:n.*814_*815delinsCC
XR_001755232.1:n.2842_2843delinsCC (NCAPH2)
NM_152299.4:c.*814_*815delinsCC (NCAPH2) MANE Select	NP_689512.2:n.*814_*815delinsCC
NM_001185011.2:c.*814_*815delinsCC (NCAPH2)	NP_001171940.1:n.*814_*815delinsCC
NM_005138.3:c.222_223delinsGG (SCO2) MANE Select	NP_005129.2:p.Trp75Gly
NM_001169109.2:c.222_223delinsGG (SCO2)	NP_001162580.1:p.Trp75Gly
NM_001169111.2:c.222_223delinsGG (SCO2)	NP_001162582.1:p.Trp75Gly