Canonical Allele Identifier: CA515387444

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 1154221
• ClinVar RCV Id: RCV001496110
• dbSNP Id: rs536037216
• gnomAD v2: 22-50962385-T-C
• gnomAD v4: 22-50523956-T-C
• MyVariant Identifiers: chr22:g.50962385T>C (hg19) ; chr22:g.50523956T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523956T>C , CM000684.2:g.50523956T>C	GRCh38
NC_000022.10:g.50962385T>C , CM000684.1:g.50962385T>C	GRCh37
NC_000022.9:g.49309251T>C	NCBI36
NG_011860.1:g.11130A>G , LRG_727:g.11130A>G
NG_016235.1:g.7484A>G
NG_021419.1:g.20741T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.456A>G (SCO2) MANE Select	ENSP00000379046.4:p.Glu152=
ENST00000420993.7:c.*581T>C (NCAPH2) MANE Select	ENSP00000410088.2:n.*581T>C
ENST00000543927.6:c.456A>G (SCO2)	ENSP00000444433.1:p.Glu152=
ENST00000638598.2:c.456A>G (SCO2)	ENSP00000491753.2:p.Glu152=
ENST00000252785.3:c.456A>G	ENSP00000252785.3:p.Glu152=
ENST00000395693.7:c.456A>G	ENSP00000379046.3:p.Glu152=
ENST00000535425.5:c.456A>G	ENSP00000444242.1:p.Glu152=
ENST00000543927.5:c.456A>G	ENSP00000444433.1:p.Glu152=
NM_001169109.1:c.456A>G (SCO2)	NP_001162580.1:p.Glu152=
NM_001169110.1:c.456A>G (SCO2)	NP_001162581.1:p.Glu152=
NM_001169111.1:c.456A>G (SCO2)	NP_001162582.1:p.Glu152=
NM_001185011.1:c.*581T>C (NCAPH2)	NP_001171940.1:n.*581T>C
NM_005138.2:c.456A>G (SCO2)	NP_005129.2:p.Glu152=
NM_152299.3:c.*581T>C (NCAPH2)	NP_689512.2:n.*581T>C
XR_001755232.1:n.2609T>C (NCAPH2)
NM_152299.4:c.*581T>C (NCAPH2) MANE Select	NP_689512.2:n.*581T>C
NM_001185011.2:c.*581T>C (NCAPH2)	NP_001171940.1:n.*581T>C
NM_005138.3:c.456A>G (SCO2) MANE Select	NP_005129.2:p.Glu152=
NM_001169109.2:c.456A>G (SCO2)	NP_001162580.1:p.Glu152=
NM_001169111.2:c.456A>G (SCO2)	NP_001162582.1:p.Glu152=