Canonical Allele Identifier: CA2657556958

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 2772673
• ClinVar RCV Id: RCV003576790
• gnomAD v4: 22-50524023-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524024_50524025del , CM000684.2:g.50524024_50524025del	GRCh38
NC_000022.10:g.50962453_50962454del , CM000684.1:g.50962453_50962454del	GRCh37
NC_000022.9:g.49309319_49309320del	NCBI36
NG_011860.1:g.11061_11062del , LRG_727:g.11061_11062del
NG_016235.1:g.7415_7416del
NG_021419.1:g.20809_20810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.387_388del (SCO2) MANE Select	ENSP00000379046.4:p.Phe130HisfsTer5
ENST00000420993.7:c.*649_*650del (NCAPH2) MANE Select	ENSP00000410088.2:n.*649_*650del
ENST00000543927.6:c.387_388del (SCO2)	ENSP00000444433.1:p.Phe130HisfsTer5
ENST00000638598.2:c.387_388del (SCO2)	ENSP00000491753.2:p.Phe130HisfsTer5
ENST00000252785.3:c.387_388del	ENSP00000252785.3:p.Phe130HisfsTer5
ENST00000395693.7:c.387_388del	ENSP00000379046.3:p.Phe130HisfsTer5
ENST00000423348.1:c.387_388del	ENSP00000403570.1:p.Phe130HisfsTer5
ENST00000439934.5:c.387_388del	ENSP00000415642.1:p.Phe130HisfsTer5
ENST00000535425.5:c.387_388del	ENSP00000444242.1:p.Phe130HisfsTer5
ENST00000543927.5:c.387_388del	ENSP00000444433.1:p.Phe130HisfsTer5
NM_001169109.1:c.387_388del (SCO2)	NP_001162580.1:p.Phe130HisfsTer5
NM_001169110.1:c.387_388del (SCO2)	NP_001162581.1:p.Phe130HisfsTer5
NM_001169111.1:c.387_388del (SCO2)	NP_001162582.1:p.Phe130HisfsTer5
NM_001185011.1:c.*649_*650del (NCAPH2)	NP_001171940.1:n.*649_*650del
NM_005138.2:c.387_388del (SCO2)	NP_005129.2:p.Phe130HisfsTer5
NM_152299.3:c.*649_*650del (NCAPH2)	NP_689512.2:n.*649_*650del
XR_001755232.1:n.2677_2678del (NCAPH2)
NM_152299.4:c.*649_*650del (NCAPH2) MANE Select	NP_689512.2:n.*649_*650del
NM_001185011.2:c.*649_*650del (NCAPH2)	NP_001171940.1:n.*649_*650del
NM_005138.3:c.387_388del (SCO2) MANE Select	NP_005129.2:p.Phe130HisfsTer5
NM_001169109.2:c.387_388del (SCO2)	NP_001162580.1:p.Phe130HisfsTer5
NM_001169111.2:c.387_388del (SCO2)	NP_001162582.1:p.Phe130HisfsTer5