Canonical Allele Identifier: CA10321148

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 1476530
• ClinVar RCV Id: RCV002008150
• dbSNP Id: rs764093441
• ExAC: 22:50962177 C / T
• gnomAD v2: 22-50962177-C-T
• gnomAD v3: 22-50523748-C-T
• gnomAD v4: 22-50523748-C-T
• MyVariant Identifiers: chr22:g.50962177C>T (hg19) ; chr22:g.50523748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523748C>T , CM000684.2:g.50523748C>T	GRCh38
NC_000022.10:g.50962177C>T , CM000684.1:g.50962177C>T	GRCh37
NC_000022.9:g.49309043C>T	NCBI36
NG_016235.1:g.7692G>A
NG_021419.1:g.20533C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.664G>A (SCO2) MANE Select	ENSP00000379046.4:p.Val222Met
ENST00000420993.7:c.*373C>T (NCAPH2) MANE Select	ENSP00000410088.2:n.*373C>T
ENST00000543927.6:c.664G>A (SCO2)	ENSP00000444433.1:p.Val222Met
ENST00000252785.3:c.664G>A	ENSP00000252785.3:p.Val222Met
ENST00000395693.7:c.664G>A	ENSP00000379046.3:p.Val222Met
ENST00000535425.5:c.664G>A	ENSP00000444242.1:p.Val222Met
ENST00000543927.5:c.664G>A	ENSP00000444433.1:p.Val222Met
NM_001169109.1:c.664G>A (SCO2)	NP_001162580.1:p.Val222Met
NM_001169110.1:c.664G>A (SCO2)	NP_001162581.1:p.Val222Met
NM_001169111.1:c.664G>A (SCO2)	NP_001162582.1:p.Val222Met
NM_001185011.1:c.*373C>T (NCAPH2)	NP_001171940.1:n.*373C>T
NM_005138.2:c.664G>A (SCO2)	NP_005129.2:p.Val222Met
NM_152299.3:c.*373C>T (NCAPH2)	NP_689512.2:n.*373C>T
XR_001755232.1:n.2401C>T (NCAPH2)
NM_152299.4:c.*373C>T (NCAPH2) MANE Select	NP_689512.2:n.*373C>T
NM_001185011.2:c.*373C>T (NCAPH2)	NP_001171940.1:n.*373C>T
NM_005138.3:c.664G>A (SCO2) MANE Select	NP_005129.2:p.Val222Met
NM_001169109.2:c.664G>A (SCO2)	NP_001162580.1:p.Val222Met
NM_001169111.2:c.664G>A (SCO2)	NP_001162582.1:p.Val222Met