Canonical Allele Identifier: CA640357306

Gene: SCO2 NCAPH2

Linked Data

• dbSNP Id: rs1480623481
• gnomAD v2: 22-50962427-T-TGGGCAGATGTCA
• gnomAD v4: 22-50523998-T-TGGGCAGATGTCA
• MyVariant Identifiers: chr22:g.50962427_50962428insGGGCAGATGTCA (hg19) ; chr22:g.50523998_50523999insGGGCAGATGTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524005_50524016dup , CM000684.2:g.50524005_50524016dup	GRCh38
NC_000022.10:g.50962434_50962445dup , CM000684.1:g.50962434_50962445dup	GRCh37
NC_000022.9:g.49309300_49309311dup	NCBI36
NG_011860.1:g.11076_11087dup , LRG_727:g.11076_11087dup
NG_016235.1:g.7430_7441dup
NG_021419.1:g.20790_20801dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.402_413dup (SCO2) MANE Select	ENSP00000379046.4:p.Pro138_Asp139insAspIleCysPro
ENST00000420993.7:c.*630_*641dup (NCAPH2) MANE Select	ENSP00000410088.2:n.*630_*641dup
ENST00000543927.6:c.402_413dup (SCO2)	ENSP00000444433.1:p.Pro138_Asp139insAspIleCysPro
ENST00000638598.2:c.402_413dup (SCO2)	ENSP00000491753.2:p.Pro138_Asp139insAspIleCysPro
ENST00000252785.3:c.402_413dup	ENSP00000252785.3:p.Pro138_Asp139insAspIleCysPro
ENST00000395693.7:c.402_413dup	ENSP00000379046.3:p.Pro138_Asp139insAspIleCysPro
ENST00000535425.5:c.402_413dup	ENSP00000444242.1:p.Pro138_Asp139insAspIleCysPro
ENST00000543927.5:c.402_413dup	ENSP00000444433.1:p.Pro138_Asp139insAspIleCysPro
NM_001169109.1:c.402_413dup (SCO2)	NP_001162580.1:p.Pro138_Asp139insAspIleCysPro
NM_001169110.1:c.402_413dup (SCO2)	NP_001162581.1:p.Pro138_Asp139insAspIleCysPro
NM_001169111.1:c.402_413dup (SCO2)	NP_001162582.1:p.Pro138_Asp139insAspIleCysPro
NM_001185011.1:c.*630_*641dup (NCAPH2)	NP_001171940.1:n.*630_*641dup
NM_005138.2:c.402_413dup (SCO2)	NP_005129.2:p.Pro138_Asp139insAspIleCysPro
NM_152299.3:c.*630_*641dup (NCAPH2)	NP_689512.2:n.*630_*641dup
XR_001755232.1:n.2658_2669dup (NCAPH2)
NM_152299.4:c.*630_*641dup (NCAPH2) MANE Select	NP_689512.2:n.*630_*641dup
NM_001185011.2:c.*630_*641dup (NCAPH2)	NP_001171940.1:n.*630_*641dup
NM_005138.3:c.402_413dup (SCO2) MANE Select	NP_005129.2:p.Pro138_Asp139insAspIleCysPro
NM_001169109.2:c.402_413dup (SCO2)	NP_001162580.1:p.Pro138_Asp139insAspIleCysPro
NM_001169111.2:c.402_413dup (SCO2)	NP_001162582.1:p.Pro138_Asp139insAspIleCysPro