Canonical Allele Identifier: CA412191391

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 2435781
• ClinVar RCV Id: RCV003136531
• gnomAD v4: 22-50523726-T-C
• MyVariant Identifiers: chr22:g.50962155T>C (hg19) ; chr22:g.50523726T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523726T>C , CM000684.2:g.50523726T>C	GRCh38
NC_000022.10:g.50962155T>C , CM000684.1:g.50962155T>C	GRCh37
NC_000022.9:g.49309021T>C	NCBI36
NG_016235.1:g.7714A>G
NG_021419.1:g.20511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.686A>G (SCO2) MANE Select	ENSP00000379046.4:p.Tyr229Cys
ENST00000420993.7:c.*351T>C (NCAPH2) MANE Select	ENSP00000410088.2:n.*351T>C
ENST00000543927.6:c.686A>G (SCO2)	ENSP00000444433.1:p.Tyr229Cys
ENST00000252785.3:c.686A>G	ENSP00000252785.3:p.Tyr229Cys
ENST00000395693.7:c.686A>G	ENSP00000379046.3:p.Tyr229Cys
ENST00000535425.5:c.686A>G	ENSP00000444242.1:p.Tyr229Cys
ENST00000543927.5:c.686A>G	ENSP00000444433.1:p.Tyr229Cys
NM_001169109.1:c.686A>G (SCO2)	NP_001162580.1:p.Tyr229Cys
NM_001169110.1:c.686A>G (SCO2)	NP_001162581.1:p.Tyr229Cys
NM_001169111.1:c.686A>G (SCO2)	NP_001162582.1:p.Tyr229Cys
NM_001185011.1:c.*351T>C (NCAPH2)	NP_001171940.1:n.*351T>C
NM_005138.2:c.686A>G (SCO2)	NP_005129.2:p.Tyr229Cys
NM_152299.3:c.*351T>C (NCAPH2)	NP_689512.2:n.*351T>C
XR_001755232.1:n.2379T>C (NCAPH2)
NM_152299.4:c.*351T>C (NCAPH2) MANE Select	NP_689512.2:n.*351T>C
NM_001185011.2:c.*351T>C (NCAPH2)	NP_001171940.1:n.*351T>C
NM_005138.3:c.686A>G (SCO2) MANE Select	NP_005129.2:p.Tyr229Cys
NM_001169109.2:c.686A>G (SCO2)	NP_001162580.1:p.Tyr229Cys
NM_001169111.2:c.686A>G (SCO2)	NP_001162582.1:p.Tyr229Cys