Canonical Allele Identifier: CA412190474

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 2154459
• ClinVar RCV Id: RCV003069297
• dbSNP Id: rs200610534
• gnomAD v2: 22-50962117-C-G
• gnomAD v3: 22-50523688-C-G
• gnomAD v4: 22-50523688-C-G
• MyVariant Identifiers: chr22:g.50962117C>G (hg19) ; chr22:g.50523688C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523688C>G , CM000684.2:g.50523688C>G	GRCh38
NC_000022.10:g.50962117C>G , CM000684.1:g.50962117C>G	GRCh37
NC_000022.9:g.49308983C>G	NCBI36
NG_016235.1:g.7752G>C
NG_021419.1:g.20473C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.724G>C (SCO2) MANE Select	ENSP00000379046.4:p.Gly242Arg
ENST00000420993.7:c.*313C>G (NCAPH2) MANE Select	ENSP00000410088.2:n.*313C>G
ENST00000543927.6:c.724G>C (SCO2)	ENSP00000444433.1:p.Gly242Arg
ENST00000252785.3:c.724G>C	ENSP00000252785.3:p.Gly242Arg
ENST00000395693.7:c.724G>C	ENSP00000379046.3:p.Gly242Arg
ENST00000535425.5:c.724G>C	ENSP00000444242.1:p.Gly242Arg
ENST00000543927.5:c.724G>C	ENSP00000444433.1:p.Gly242Arg
NM_001169109.1:c.724G>C (SCO2)	NP_001162580.1:p.Gly242Arg
NM_001169110.1:c.724G>C (SCO2)	NP_001162581.1:p.Gly242Arg
NM_001169111.1:c.724G>C (SCO2)	NP_001162582.1:p.Gly242Arg
NM_001185011.1:c.*313C>G (NCAPH2)	NP_001171940.1:n.*313C>G
NM_005138.2:c.724G>C (SCO2)	NP_005129.2:p.Gly242Arg
NM_152299.3:c.*313C>G (NCAPH2)	NP_689512.2:n.*313C>G
XR_001755232.1:n.2341C>G (NCAPH2)
NM_152299.4:c.*313C>G (NCAPH2) MANE Select	NP_689512.2:n.*313C>G
NM_001185011.2:c.*313C>G (NCAPH2)	NP_001171940.1:n.*313C>G
NM_005138.3:c.724G>C (SCO2) MANE Select	NP_005129.2:p.Gly242Arg
NM_001169109.2:c.724G>C (SCO2)	NP_001162580.1:p.Gly242Arg
NM_001169111.2:c.724G>C (SCO2)	NP_001162582.1:p.Gly242Arg