Canonical Allele Identifier: CA2657555924

Gene: SCO2 NCAPH2

Linked Data

• gnomAD v4: 22-50523845-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523847del , CM000684.2:g.50523847del	GRCh38
NC_000022.10:g.50962276del , CM000684.1:g.50962276del	GRCh37
NC_000022.9:g.49309142del	NCBI36
NG_011860.1:g.11240del , LRG_727:g.11240del
NG_016235.1:g.7594del
NG_021419.1:g.20632del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.566del (SCO2) MANE Select	ENSP00000379046.4:p.Leu189TrpfsTer3
ENST00000420993.7:c.*472del (NCAPH2) MANE Select	ENSP00000410088.2:n.*472del
ENST00000543927.6:c.566del (SCO2)	ENSP00000444433.1:p.Leu189TrpfsTer3
ENST00000252785.3:c.566del	ENSP00000252785.3:p.Leu189TrpfsTer3
ENST00000395693.7:c.566del	ENSP00000379046.3:p.Leu189TrpfsTer3
ENST00000535425.5:c.566del	ENSP00000444242.1:p.Leu189TrpfsTer3
ENST00000543927.5:c.566del	ENSP00000444433.1:p.Leu189TrpfsTer3
NM_001169109.1:c.566del (SCO2)	NP_001162580.1:p.Leu189TrpfsTer3
NM_001169110.1:c.566del (SCO2)	NP_001162581.1:p.Leu189TrpfsTer3
NM_001169111.1:c.566del (SCO2)	NP_001162582.1:p.Leu189TrpfsTer3
NM_001185011.1:c.*472del (NCAPH2)	NP_001171940.1:n.*472del
NM_005138.2:c.566del (SCO2)	NP_005129.2:p.Leu189TrpfsTer3
NM_152299.3:c.*472del (NCAPH2)	NP_689512.2:n.*472del
XR_001755232.1:n.2500del (NCAPH2)
NM_152299.4:c.*472del (NCAPH2) MANE Select	NP_689512.2:n.*472del
NM_001185011.2:c.*472del (NCAPH2)	NP_001171940.1:n.*472del
NM_005138.3:c.566del (SCO2) MANE Select	NP_005129.2:p.Leu189TrpfsTer3
NM_001169109.2:c.566del (SCO2)	NP_001162580.1:p.Leu189TrpfsTer3
NM_001169111.2:c.566del (SCO2)	NP_001162582.1:p.Leu189TrpfsTer3