Canonical Allele Identifier: CA16621135

Gene: SCO2 NCAPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523794dup , CM000684.2:g.50523794dup	GRCh38
NC_000022.10:g.50962223dup , CM000684.1:g.50962223dup	GRCh37
NC_000022.9:g.49309089dup	NCBI36
NG_011860.1:g.11292dup , LRG_727:g.11292dup
NG_016235.1:g.7646dup
NG_021419.1:g.20579dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.618dup (SCO2) MANE Select	ENSP00000379046.4:p.Val207ArgfsTer10
ENST00000420993.7:c.*419dup (NCAPH2) MANE Select	ENSP00000410088.2:n.*419dup
ENST00000543927.6:c.618dup (SCO2)	ENSP00000444433.1:p.Val207ArgfsTer10
ENST00000252785.3:c.618dup	ENSP00000252785.3:p.Val207ArgfsTer10
ENST00000395693.7:c.618dup	ENSP00000379046.3:p.Val207ArgfsTer10
ENST00000535425.5:c.618dup	ENSP00000444242.1:p.Val207ArgfsTer10
ENST00000543927.5:c.618dup	ENSP00000444433.1:p.Val207ArgfsTer10
NM_001169109.1:c.618dup (SCO2)	NP_001162580.1:p.Val207ArgfsTer10
NM_001169110.1:c.618dup (SCO2)	NP_001162581.1:p.Val207ArgfsTer10
NM_001169111.1:c.618dup (SCO2)	NP_001162582.1:p.Val207ArgfsTer10
NM_001185011.1:c.*419dup (NCAPH2)	NP_001171940.1:n.*419dup
NM_005138.2:c.618dup (SCO2)	NP_005129.2:p.Val207ArgfsTer10
NM_152299.3:c.*419dup (NCAPH2)	NP_689512.2:n.*419dup
XR_001755232.1:n.2447dup (NCAPH2)
NM_152299.4:c.*419dup (NCAPH2) MANE Select	NP_689512.2:n.*419dup
NM_001185011.2:c.*419dup (NCAPH2)	NP_001171940.1:n.*419dup
NM_005138.3:c.618dup (SCO2) MANE Select	NP_005129.2:p.Val207ArgfsTer10
NM_001169109.2:c.618dup (SCO2)	NP_001162580.1:p.Val207ArgfsTer10
NM_001169111.2:c.618dup (SCO2)	NP_001162582.1:p.Val207ArgfsTer10