Canonical Allele Identifier: CA515387125

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 2992335
• ClinVar RCV Id: RCV003855462
• gnomAD v4: 22-50523989-C-A
• MyVariant Identifiers: chr22:g.50962418C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523989C>A , CM000684.2:g.50523989C>A	GRCh38
NC_000022.10:g.50962418C>A , CM000684.1:g.50962418C>A	GRCh37
NC_000022.9:g.49309284C>A	NCBI36
NG_011860.1:g.11097G>T , LRG_727:g.11097G>T
NG_016235.1:g.7451G>T
NG_021419.1:g.20774C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.423G>T (SCO2) MANE Select	ENSP00000379046.4:p.Leu141=
ENST00000420993.7:c.*614C>A (NCAPH2) MANE Select	ENSP00000410088.2:n.*614C>A
ENST00000543927.6:c.423G>T (SCO2)	ENSP00000444433.1:p.Leu141=
ENST00000638598.2:c.423G>T (SCO2)	ENSP00000491753.2:p.Leu141=
ENST00000252785.3:c.423G>T	ENSP00000252785.3:p.Leu141=
ENST00000395693.7:c.423G>T	ENSP00000379046.3:p.Leu141=
ENST00000535425.5:c.423G>T	ENSP00000444242.1:p.Leu141=
ENST00000543927.5:c.423G>T	ENSP00000444433.1:p.Leu141=
NM_001169109.1:c.423G>T (SCO2)	NP_001162580.1:p.Leu141=
NM_001169110.1:c.423G>T (SCO2)	NP_001162581.1:p.Leu141=
NM_001169111.1:c.423G>T (SCO2)	NP_001162582.1:p.Leu141=
NM_001185011.1:c.*614C>A (NCAPH2)	NP_001171940.1:n.*614C>A
NM_005138.2:c.423G>T (SCO2)	NP_005129.2:p.Leu141=
NM_152299.3:c.*614C>A (NCAPH2)	NP_689512.2:n.*614C>A
XR_001755232.1:n.2642C>A (NCAPH2)
NM_152299.4:c.*614C>A (NCAPH2) MANE Select	NP_689512.2:n.*614C>A
NM_001185011.2:c.*614C>A (NCAPH2)	NP_001171940.1:n.*614C>A
NM_005138.3:c.423G>T (SCO2) MANE Select	NP_005129.2:p.Leu141=
NM_001169109.2:c.423G>T (SCO2)	NP_001162580.1:p.Leu141=
NM_001169111.2:c.423G>T (SCO2)	NP_001162582.1:p.Leu141=