Canonical Allele Identifier: CA10321205

Gene: SCO2 NCAPH2

Linked Data

• dbSNP Id: rs766510758
• ExAC: 22:50962399 C / CCACCTG
• gnomAD v2: 22-50962399-C-CCACCTG
• gnomAD v4: 22-50523970-C-CCACCTG
• MyVariant Identifiers: chr22:g.50962399_50962400insCACCTG (hg19) ; chr22:g.50523970_50523971insCACCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523975_50523980dup , CM000684.2:g.50523975_50523980dup	GRCh38
NC_000022.10:g.50962404_50962409dup , CM000684.1:g.50962404_50962409dup	GRCh37
NC_000022.9:g.49309270_49309275dup	NCBI36
NG_011860.1:g.11110_11115dup , LRG_727:g.11110_11115dup
NG_016235.1:g.7464_7469dup
NG_021419.1:g.20760_20765dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.436_441dup (SCO2) MANE Select	ENSP00000379046.4:p.Val147_Val148insGlnVal
ENST00000420993.7:c.*600_*605dup (NCAPH2) MANE Select	ENSP00000410088.2:n.*600_*605dup
ENST00000543927.6:c.436_441dup (SCO2)	ENSP00000444433.1:p.Val147_Val148insGlnVal
ENST00000638598.2:c.436_441dup (SCO2)	ENSP00000491753.2:p.Val147_Val148insGlnVal
ENST00000252785.3:c.436_441dup	ENSP00000252785.3:p.Val147_Val148insGlnVal
ENST00000395693.7:c.436_441dup	ENSP00000379046.3:p.Val147_Val148insGlnVal
ENST00000535425.5:c.436_441dup	ENSP00000444242.1:p.Val147_Val148insGlnVal
ENST00000543927.5:c.436_441dup	ENSP00000444433.1:p.Val147_Val148insGlnVal
NM_001169109.1:c.436_441dup (SCO2)	NP_001162580.1:p.Val147_Val148insGlnVal
NM_001169110.1:c.436_441dup (SCO2)	NP_001162581.1:p.Val147_Val148insGlnVal
NM_001169111.1:c.436_441dup (SCO2)	NP_001162582.1:p.Val147_Val148insGlnVal
NM_001185011.1:c.*600_*605dup (NCAPH2)	NP_001171940.1:n.*600_*605dup
NM_005138.2:c.436_441dup (SCO2)	NP_005129.2:p.Val147_Val148insGlnVal
NM_152299.3:c.*600_*605dup (NCAPH2)	NP_689512.2:n.*600_*605dup
XR_001755232.1:n.2628_2633dup (NCAPH2)
NM_152299.4:c.*600_*605dup (NCAPH2) MANE Select	NP_689512.2:n.*600_*605dup
NM_001185011.2:c.*600_*605dup (NCAPH2)	NP_001171940.1:n.*600_*605dup
NM_005138.3:c.436_441dup (SCO2) MANE Select	NP_005129.2:p.Val147_Val148insGlnVal
NM_001169109.2:c.436_441dup (SCO2)	NP_001162580.1:p.Val147_Val148insGlnVal
NM_001169111.2:c.436_441dup (SCO2)	NP_001162582.1:p.Val147_Val148insGlnVal