Canonical Allele Identifier: CA412191687

Gene: SCO2 NCAPH2

Linked Data

• MyVariant Identifiers: chr22:g.50962197T>G (hg19) ; chr22:g.50523768T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523768T>G , CM000684.2:g.50523768T>G	GRCh38
NC_000022.10:g.50962197T>G , CM000684.1:g.50962197T>G	GRCh37
NC_000022.9:g.49309063T>G	NCBI36
NG_011860.1:g.11318A>C , LRG_727:g.11318A>C
NG_016235.1:g.7672A>C
NG_021419.1:g.20553T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.644A>C (SCO2) MANE Select	ENSP00000379046.4:p.Asp215Ala
ENST00000420993.7:c.*393T>G (NCAPH2) MANE Select	ENSP00000410088.2:n.*393T>G
ENST00000543927.6:c.644A>C (SCO2)	ENSP00000444433.1:p.Asp215Ala
ENST00000252785.3:c.644A>C	ENSP00000252785.3:p.Asp215Ala
ENST00000395693.7:c.644A>C	ENSP00000379046.3:p.Asp215Ala
ENST00000535425.5:c.644A>C	ENSP00000444242.1:p.Asp215Ala
ENST00000543927.5:c.644A>C	ENSP00000444433.1:p.Asp215Ala
NM_001169109.1:c.644A>C (SCO2)	NP_001162580.1:p.Asp215Ala
NM_001169110.1:c.644A>C (SCO2)	NP_001162581.1:p.Asp215Ala
NM_001169111.1:c.644A>C (SCO2)	NP_001162582.1:p.Asp215Ala
NM_001185011.1:c.*393T>G (NCAPH2)	NP_001171940.1:n.*393T>G
NM_005138.2:c.644A>C (SCO2)	NP_005129.2:p.Asp215Ala
NM_152299.3:c.*393T>G (NCAPH2)	NP_689512.2:n.*393T>G
XR_001755232.1:n.2421T>G (NCAPH2)
NM_152299.4:c.*393T>G (NCAPH2) MANE Select	NP_689512.2:n.*393T>G
NM_001185011.2:c.*393T>G (NCAPH2)	NP_001171940.1:n.*393T>G
NM_005138.3:c.644A>C (SCO2) MANE Select	NP_005129.2:p.Asp215Ala
NM_001169109.2:c.644A>C (SCO2)	NP_001162580.1:p.Asp215Ala
NM_001169111.2:c.644A>C (SCO2)	NP_001162582.1:p.Asp215Ala