Canonical Allele Identifier: CA412192708

Gene: SCO2 NCAPH2

Linked Data

• MyVariant Identifiers: chr22:g.50962399C>G (hg19) ; chr22:g.50523970C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523970C>G , CM000684.2:g.50523970C>G	GRCh38
NC_000022.10:g.50962399C>G , CM000684.1:g.50962399C>G	GRCh37
NC_000022.9:g.49309265C>G	NCBI36
NG_011860.1:g.11116G>C , LRG_727:g.11116G>C
NG_016235.1:g.7470G>C
NG_021419.1:g.20755C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.442G>C (SCO2) MANE Select	ENSP00000379046.4:p.Val148Leu
ENST00000420993.7:c.*595C>G (NCAPH2) MANE Select	ENSP00000410088.2:n.*595C>G
ENST00000543927.6:c.442G>C (SCO2)	ENSP00000444433.1:p.Val148Leu
ENST00000638598.2:c.442G>C (SCO2)	ENSP00000491753.2:p.Val148Leu
ENST00000252785.3:c.442G>C	ENSP00000252785.3:p.Val148Leu
ENST00000395693.7:c.442G>C	ENSP00000379046.3:p.Val148Leu
ENST00000535425.5:c.442G>C	ENSP00000444242.1:p.Val148Leu
ENST00000543927.5:c.442G>C	ENSP00000444433.1:p.Val148Leu
NM_001169109.1:c.442G>C (SCO2)	NP_001162580.1:p.Val148Leu
NM_001169110.1:c.442G>C (SCO2)	NP_001162581.1:p.Val148Leu
NM_001169111.1:c.442G>C (SCO2)	NP_001162582.1:p.Val148Leu
NM_001185011.1:c.*595C>G (NCAPH2)	NP_001171940.1:n.*595C>G
NM_005138.2:c.442G>C (SCO2)	NP_005129.2:p.Val148Leu
NM_152299.3:c.*595C>G (NCAPH2)	NP_689512.2:n.*595C>G
XR_001755232.1:n.2623C>G (NCAPH2)
NM_152299.4:c.*595C>G (NCAPH2) MANE Select	NP_689512.2:n.*595C>G
NM_001185011.2:c.*595C>G (NCAPH2)	NP_001171940.1:n.*595C>G
NM_005138.3:c.442G>C (SCO2) MANE Select	NP_005129.2:p.Val148Leu
NM_001169109.2:c.442G>C (SCO2)	NP_001162580.1:p.Val148Leu
NM_001169111.2:c.442G>C (SCO2)	NP_001162582.1:p.Val148Leu