Canonical Allele Identifier: CA412190258

Gene: SCO2 NCAPH2

Linked Data

• MyVariant Identifiers: chr22:g.50962050A>T (hg19) ; chr22:g.50523621A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523621A>T , CM000684.2:g.50523621A>T	GRCh38
NC_000022.10:g.50962050A>T , CM000684.1:g.50962050A>T	GRCh37
NC_000022.9:g.49308916A>T	NCBI36
NG_016235.1:g.7819T>A
NG_021419.1:g.20406A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395693.8:c.791T>A (SCO2) MANE Select	ENSP00000379046.4:p.Val264Asp
ENST00000420993.7:c.*246A>T (NCAPH2) MANE Select	ENSP00000410088.2:n.*246A>T
ENST00000543927.6:c.791T>A (SCO2)	ENSP00000444433.1:p.Val264Asp
ENST00000252785.3:c.791T>A	ENSP00000252785.3:p.Val264Asp
ENST00000395693.7:c.791T>A	ENSP00000379046.3:p.Val264Asp
ENST00000535425.5:c.791T>A	ENSP00000444242.1:p.Val264Asp
ENST00000543927.5:c.791T>A	ENSP00000444433.1:p.Val264Asp
NM_001169109.1:c.791T>A (SCO2)	NP_001162580.1:p.Val264Asp
NM_001169110.1:c.791T>A (SCO2)	NP_001162581.1:p.Val264Asp
NM_001169111.1:c.791T>A (SCO2)	NP_001162582.1:p.Val264Asp
NM_001185011.1:c.*246A>T (NCAPH2)	NP_001171940.1:n.*246A>T
NM_005138.2:c.791T>A (SCO2)	NP_005129.2:p.Val264Asp
NM_152299.3:c.*246A>T (NCAPH2)	NP_689512.2:n.*246A>T
XR_001755232.1:n.2274A>T (NCAPH2)
NM_152299.4:c.*246A>T (NCAPH2) MANE Select	NP_689512.2:n.*246A>T
NM_001185011.2:c.*246A>T (NCAPH2)	NP_001171940.1:n.*246A>T
NM_005138.3:c.791T>A (SCO2) MANE Select	NP_005129.2:p.Val264Asp
NM_001169109.2:c.791T>A (SCO2)	NP_001162580.1:p.Val264Asp
NM_001169111.2:c.791T>A (SCO2)	NP_001162582.1:p.Val264Asp