Canonical Allele Identifier: CA640357305

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 1315170
• ClinVar RCV Id: RCV001773364
• dbSNP Id: rs1569521526
• gnomAD v2: 22-50962395-CGCACCACCT-C
• gnomAD v3: 22-50523966-CGCACCACCT-C
• gnomAD v4: 22-50523966-CGCACCACCT-C
• MyVariant Identifiers: chr22:g.50962396_50962404del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523973_50523981del , CM000684.2:g.50523973_50523981del	GRCh38
NC_000022.10:g.50962402_50962410del , CM000684.1:g.50962402_50962410del	GRCh37
NC_000022.9:g.49309268_49309276del	NCBI36
NG_011860.1:g.11111_11119del , LRG_727:g.11111_11119del
NG_016235.1:g.7465_7473del
NG_021419.1:g.20758_20766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.437_445del (SCO2) MANE Select	ENSP00000379046.4:p.Gln146_Val148del
ENST00000420993.7:c.*598_*606del (NCAPH2) MANE Select	ENSP00000410088.2:n.*598_*606del
ENST00000543927.6:c.437_445del (SCO2)	ENSP00000444433.1:p.Gln146_Val148del
ENST00000638598.2:c.437_445del (SCO2)	ENSP00000491753.2:p.Gln146_Val148del
ENST00000252785.3:c.437_445del	ENSP00000252785.3:p.Gln146_Val148del
ENST00000395693.7:c.437_445del	ENSP00000379046.3:p.Gln146_Val148del
ENST00000535425.5:c.437_445del	ENSP00000444242.1:p.Gln146_Val148del
ENST00000543927.5:c.437_445del	ENSP00000444433.1:p.Gln146_Val148del
NM_001169109.1:c.437_445del (SCO2)	NP_001162580.1:p.Gln146_Val148del
NM_001169110.1:c.437_445del (SCO2)	NP_001162581.1:p.Gln146_Val148del
NM_001169111.1:c.437_445del (SCO2)	NP_001162582.1:p.Gln146_Val148del
NM_001185011.1:c.*598_*606del (NCAPH2)	NP_001171940.1:n.*598_*606del
NM_005138.2:c.437_445del (SCO2)	NP_005129.2:p.Gln146_Val148del
NM_152299.3:c.*598_*606del (NCAPH2)	NP_689512.2:n.*598_*606del
XR_001755232.1:n.2626_2634del (NCAPH2)
NM_152299.4:c.*598_*606del (NCAPH2) MANE Select	NP_689512.2:n.*598_*606del
NM_001185011.2:c.*598_*606del (NCAPH2)	NP_001171940.1:n.*598_*606del
NM_005138.3:c.437_445del (SCO2) MANE Select	NP_005129.2:p.Gln146_Val148del
NM_001169109.2:c.437_445del (SCO2)	NP_001162580.1:p.Gln146_Val148del
NM_001169111.2:c.437_445del (SCO2)	NP_001162582.1:p.Gln146_Val148del