Canonical Allele Identifier: CA293456

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 139088
• ClinVar RCV Id: RCV000284953 ; RCV000369274 ; RCV000383650 ; RCV000431453 ; RCV001145436
• dbSNP Id: rs8139305
• ExAC: 22:50962065 G / A
• gnomAD v2: 22-50962065-G-A
• gnomAD v3: 22-50523636-G-A
• gnomAD v4: 22-50523636-G-A
• MyVariant Identifiers: chr22:g.50962065G>A (hg19) ; chr22:g.50523636G>A (hg38)
• PubMed: PMID:23643385

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523636G>A , CM000684.2:g.50523636G>A	GRCh38
NC_000022.10:g.50962065G>A , CM000684.1:g.50962065G>A	GRCh37
NC_000022.9:g.49308931G>A	NCBI36
NG_016235.1:g.7804C>T
NG_021419.1:g.20421G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395693.8:c.776C>T (SCO2) MANE Select	ENSP00000379046.4:p.Ala259Val
ENST00000420993.7:c.*261G>A (NCAPH2) MANE Select	ENSP00000410088.2:n.*261G>A
ENST00000543927.6:c.776C>T (SCO2)	ENSP00000444433.1:p.Ala259Val
ENST00000252785.3:c.776C>T	ENSP00000252785.3:p.Ala259Val
ENST00000395693.7:c.776C>T	ENSP00000379046.3:p.Ala259Val
ENST00000535425.5:c.776C>T	ENSP00000444242.1:p.Ala259Val
ENST00000543927.5:c.776C>T	ENSP00000444433.1:p.Ala259Val
NM_001169109.1:c.776C>T (SCO2)	NP_001162580.1:p.Ala259Val
NM_001169110.1:c.776C>T (SCO2)	NP_001162581.1:p.Ala259Val
NM_001169111.1:c.776C>T (SCO2)	NP_001162582.1:p.Ala259Val
NM_001185011.1:c.*261G>A (NCAPH2)	NP_001171940.1:n.*261G>A
NM_005138.2:c.776C>T (SCO2)	NP_005129.2:p.Ala259Val
NM_152299.3:c.*261G>A (NCAPH2)	NP_689512.2:n.*261G>A
XR_001755232.1:n.2289G>A (NCAPH2)
NM_152299.4:c.*261G>A (NCAPH2) MANE Select	NP_689512.2:n.*261G>A
NM_001185011.2:c.*261G>A (NCAPH2)	NP_001171940.1:n.*261G>A
NM_005138.3:c.776C>T (SCO2) MANE Select	NP_005129.2:p.Ala259Val
NM_001169109.2:c.776C>T (SCO2)	NP_001162580.1:p.Ala259Val
NM_001169111.2:c.776C>T (SCO2)	NP_001162582.1:p.Ala259Val