Canonical Allele Identifier: CA2657554563

Gene: SCO2 NCAPH2

Linked Data

• gnomAD v4: 22-50523590-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523594dup , CM000684.2:g.50523594dup	GRCh38
NC_000022.10:g.50962023dup , CM000684.1:g.50962023dup	GRCh37
NC_000022.9:g.49308889dup	NCBI36
NG_016235.1:g.7849dup
NG_021419.1:g.20379dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.*20dup (SCO2) MANE Select	ENSP00000379046.4:n.*20dup
ENST00000420993.7:c.*219dup (NCAPH2) MANE Select	ENSP00000410088.2:n.*219dup
ENST00000543927.6:c.*20dup (SCO2)	ENSP00000444433.1:n.*20dup
ENST00000395693.7:c.*20dup	ENSP00000379046.3:n.*20dup
ENST00000535425.5:c.*20dup	ENSP00000444242.1:n.*20dup
ENST00000543927.5:c.*20dup	ENSP00000444433.1:n.*20dup
NM_001169109.1:c.*20dup (SCO2)	NP_001162580.1:n.*20dup
NM_001169110.1:c.*20dup (SCO2)	NP_001162581.1:n.*20dup
NM_001169111.1:c.*20dup (SCO2)	NP_001162582.1:n.*20dup
NM_001185011.1:c.*219dup (NCAPH2)	NP_001171940.1:n.*219dup
NM_005138.2:c.*20dup (SCO2)	NP_005129.2:n.*20dup
NM_152299.3:c.*219dup (NCAPH2)	NP_689512.2:n.*219dup
XR_001755232.1:n.2247dup (NCAPH2)
NM_152299.4:c.*219dup (NCAPH2) MANE Select	NP_689512.2:n.*219dup
NM_001185011.2:c.*219dup (NCAPH2)	NP_001171940.1:n.*219dup
NM_005138.3:c.*20dup (SCO2) MANE Select	NP_005129.2:n.*20dup
NM_001169109.2:c.*20dup (SCO2)	NP_001162580.1:n.*20dup
NM_001169111.2:c.*20dup (SCO2)	NP_001162582.1:n.*20dup