Canonical Allele Identifier: CA2657559206

Gene: SCO2 NCAPH2

Linked Data

• gnomAD v4: 22-50524360-T-TGAGCTGAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524365_50524373dup , CM000684.2:g.50524365_50524373dup	GRCh38
NC_000022.10:g.50962794_50962802dup , CM000684.1:g.50962794_50962802dup	GRCh37
NC_000022.9:g.49309660_49309668dup	NCBI36
NG_011860.1:g.10717_10725dup , LRG_727:g.10717_10725dup
NG_016235.1:g.7071_7079dup
NG_021419.1:g.21150_21158dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.43_51dup (SCO2) MANE Select	ENSP00000379046.4:p.Leu17_Lys18insSerGlnLeu
ENST00000420993.7:c.*990_*998dup (NCAPH2) MANE Select	ENSP00000410088.2:n.*990_*998dup
ENST00000543927.6:c.43_51dup (SCO2)	ENSP00000444433.1:p.Leu17_Lys18insSerGlnLeu
ENST00000638598.2:c.43_51dup (SCO2)	ENSP00000491753.2:p.Leu17_Lys18insSerGlnLeu
ENST00000252785.3:c.43_51dup	ENSP00000252785.3:p.Leu17_Lys18insSerGlnLeu
ENST00000395693.7:c.43_51dup	ENSP00000379046.3:p.Leu17_Lys18insSerGlnLeu
ENST00000423348.1:c.43_51dup	ENSP00000403570.1:p.Leu17_Lys18insSerGlnLeu
ENST00000439934.5:c.43_51dup	ENSP00000415642.1:p.Leu17_Lys18insSerGlnLeu
ENST00000535425.5:c.43_51dup	ENSP00000444242.1:p.Leu17_Lys18insSerGlnLeu
ENST00000543927.5:c.43_51dup	ENSP00000444433.1:p.Leu17_Lys18insSerGlnLeu
NM_001169109.1:c.43_51dup (SCO2)	NP_001162580.1:p.Leu17_Lys18insSerGlnLeu
NM_001169110.1:c.43_51dup (SCO2)	NP_001162581.1:p.Leu17_Lys18insSerGlnLeu
NM_001169111.1:c.43_51dup (SCO2)	NP_001162582.1:p.Leu17_Lys18insSerGlnLeu
NM_001185011.1:c.*990_*998dup (NCAPH2)	NP_001171940.1:n.*990_*998dup
NM_005138.2:c.43_51dup (SCO2)	NP_005129.2:p.Leu17_Lys18insSerGlnLeu
NM_152299.3:c.*990_*998dup (NCAPH2)	NP_689512.2:n.*990_*998dup
XR_001755232.1:n.3018_3026dup (NCAPH2)
NM_152299.4:c.*990_*998dup (NCAPH2) MANE Select	NP_689512.2:n.*990_*998dup
NM_001185011.2:c.*990_*998dup (NCAPH2)	NP_001171940.1:n.*990_*998dup
NM_005138.3:c.43_51dup (SCO2) MANE Select	NP_005129.2:p.Leu17_Lys18insSerGlnLeu
NM_001169109.2:c.43_51dup (SCO2)	NP_001162580.1:p.Leu17_Lys18insSerGlnLeu
NM_001169111.2:c.43_51dup (SCO2)	NP_001162582.1:p.Leu17_Lys18insSerGlnLeu