Canonical Allele Identifier: CA515386949

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 3020754
• ClinVar RCV Id: RCV003879913
• dbSNP Id: rs1569521436
• gnomAD v2: 22-50962061-A-G
• gnomAD v4: 22-50523632-A-G
• MyVariant Identifiers: chr22:g.50962061A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523632A>G , CM000684.2:g.50523632A>G	GRCh38
NC_000022.10:g.50962061A>G , CM000684.1:g.50962061A>G	GRCh37
NC_000022.9:g.49308927A>G	NCBI36
NG_016235.1:g.7808T>C
NG_021419.1:g.20417A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395693.8:c.780T>C (SCO2) MANE Select	ENSP00000379046.4:p.Ala260=
ENST00000420993.7:c.*257A>G (NCAPH2) MANE Select	ENSP00000410088.2:n.*257A>G
ENST00000543927.6:c.780T>C (SCO2)	ENSP00000444433.1:p.Ala260=
ENST00000252785.3:c.780T>C	ENSP00000252785.3:p.Ala260=
ENST00000395693.7:c.780T>C	ENSP00000379046.3:p.Ala260=
ENST00000535425.5:c.780T>C	ENSP00000444242.1:p.Ala260=
ENST00000543927.5:c.780T>C	ENSP00000444433.1:p.Ala260=
NM_001169109.1:c.780T>C (SCO2)	NP_001162580.1:p.Ala260=
NM_001169110.1:c.780T>C (SCO2)	NP_001162581.1:p.Ala260=
NM_001169111.1:c.780T>C (SCO2)	NP_001162582.1:p.Ala260=
NM_001185011.1:c.*257A>G (NCAPH2)	NP_001171940.1:n.*257A>G
NM_005138.2:c.780T>C (SCO2)	NP_005129.2:p.Ala260=
NM_152299.3:c.*257A>G (NCAPH2)	NP_689512.2:n.*257A>G
XR_001755232.1:n.2285A>G (NCAPH2)
NM_152299.4:c.*257A>G (NCAPH2) MANE Select	NP_689512.2:n.*257A>G
NM_001185011.2:c.*257A>G (NCAPH2)	NP_001171940.1:n.*257A>G
NM_005138.3:c.780T>C (SCO2) MANE Select	NP_005129.2:p.Ala260=
NM_001169109.2:c.780T>C (SCO2)	NP_001162580.1:p.Ala260=
NM_001169111.2:c.780T>C (SCO2)	NP_001162582.1:p.Ala260=