Canonical Allele Identifier: CA10321204

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 1520040
• ClinVar RCV Id: RCV002038496
• dbSNP Id: rs537717976
• ExAC: 22:50962395 C / T
• gnomAD v2: 22-50962395-C-T
• gnomAD v3: 22-50523966-C-T
• gnomAD v4: 22-50523966-C-T
• MyVariant Identifiers: chr22:g.50962395C>T (hg19) ; chr22:g.50962395_50962404delinsTGCACCACCT (hg19) ; chr22:g.50523966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523966C>T , CM000684.2:g.50523966C>T	GRCh38
NC_000022.10:g.50962395C>T , CM000684.1:g.50962395C>T	GRCh37
NC_000022.9:g.49309261C>T	NCBI36
NG_011860.1:g.11120G>A , LRG_727:g.11120G>A
NG_016235.1:g.7474G>A
NG_021419.1:g.20751C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.446G>A (SCO2) MANE Select	ENSP00000379046.4:p.Arg149Gln
ENST00000420993.7:c.*591C>T (NCAPH2) MANE Select	ENSP00000410088.2:n.*591C>T
ENST00000543927.6:c.446G>A (SCO2)	ENSP00000444433.1:p.Arg149Gln
ENST00000638598.2:c.446G>A (SCO2)	ENSP00000491753.2:p.Arg149Gln
ENST00000252785.3:c.446G>A	ENSP00000252785.3:p.Arg149Gln
ENST00000395693.7:c.446G>A	ENSP00000379046.3:p.Arg149Gln
ENST00000535425.5:c.446G>A	ENSP00000444242.1:p.Arg149Gln
ENST00000543927.5:c.446G>A	ENSP00000444433.1:p.Arg149Gln
NM_001169109.1:c.446G>A (SCO2)	NP_001162580.1:p.Arg149Gln
NM_001169110.1:c.446G>A (SCO2)	NP_001162581.1:p.Arg149Gln
NM_001169111.1:c.446G>A (SCO2)	NP_001162582.1:p.Arg149Gln
NM_001185011.1:c.*591C>T (NCAPH2)	NP_001171940.1:n.*591C>T
NM_005138.2:c.446G>A (SCO2)	NP_005129.2:p.Arg149Gln
NM_152299.3:c.*591C>T (NCAPH2)	NP_689512.2:n.*591C>T
XR_001755232.1:n.2619C>T (NCAPH2)
NM_152299.4:c.*591C>T (NCAPH2) MANE Select	NP_689512.2:n.*591C>T
NM_001185011.2:c.*591C>T (NCAPH2)	NP_001171940.1:n.*591C>T
NM_005138.3:c.446G>A (SCO2) MANE Select	NP_005129.2:p.Arg149Gln
NM_001169109.2:c.446G>A (SCO2)	NP_001162580.1:p.Arg149Gln
NM_001169111.2:c.446G>A (SCO2)	NP_001162582.1:p.Arg149Gln