Canonical Allele Identifier: CA2819314742

Gene: SCO2 NCAPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524371_50524376dup , CM000684.2:g.50524371_50524376dup	GRCh38
NC_000022.10:g.50962800_50962805dup , CM000684.1:g.50962800_50962805dup	GRCh37
NC_000022.9:g.49309666_49309671dup	NCBI36
NG_011860.1:g.10711_10716dup , LRG_727:g.10711_10716dup
NG_016235.1:g.7065_7070dup
NG_021419.1:g.21156_21161dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.37_42dup (SCO2) MANE Select	ENSP00000379046.4:p.Leu14_Ser15insArgLeu
ENST00000420993.7:c.*996_*1001dup (NCAPH2) MANE Select	ENSP00000410088.2:n.*996_*1001dup
ENST00000543927.6:c.37_42dup (SCO2)	ENSP00000444433.1:p.Leu14_Ser15insArgLeu
ENST00000638598.2:c.37_42dup (SCO2)	ENSP00000491753.2:p.Leu14_Ser15insArgLeu
ENST00000252785.3:c.37_42dup	ENSP00000252785.3:p.Leu14_Ser15insArgLeu
ENST00000395693.7:c.37_42dup	ENSP00000379046.3:p.Leu14_Ser15insArgLeu
ENST00000423348.1:c.37_42dup	ENSP00000403570.1:p.Leu14_Ser15insArgLeu
ENST00000439934.5:c.37_42dup	ENSP00000415642.1:p.Leu14_Ser15insArgLeu
ENST00000535425.5:c.37_42dup	ENSP00000444242.1:p.Leu14_Ser15insArgLeu
ENST00000543927.5:c.37_42dup	ENSP00000444433.1:p.Leu14_Ser15insArgLeu
NM_001169109.1:c.37_42dup (SCO2)	NP_001162580.1:p.Leu14_Ser15insArgLeu
NM_001169110.1:c.37_42dup (SCO2)	NP_001162581.1:p.Leu14_Ser15insArgLeu
NM_001169111.1:c.37_42dup (SCO2)	NP_001162582.1:p.Leu14_Ser15insArgLeu
NM_001185011.1:c.*996_*1001dup (NCAPH2)	NP_001171940.1:n.*996_*1001dup
NM_005138.2:c.37_42dup (SCO2)	NP_005129.2:p.Leu14_Ser15insArgLeu
NM_152299.3:c.*996_*1001dup (NCAPH2)	NP_689512.2:n.*996_*1001dup
XR_001755232.1:n.3024_3029dup (NCAPH2)
NM_152299.4:c.*996_*1001dup (NCAPH2) MANE Select	NP_689512.2:n.*996_*1001dup
NM_001185011.2:c.*996_*1001dup (NCAPH2)	NP_001171940.1:n.*996_*1001dup
NM_005138.3:c.37_42dup (SCO2) MANE Select	NP_005129.2:p.Leu14_Ser15insArgLeu
NM_001169109.2:c.37_42dup (SCO2)	NP_001162580.1:p.Leu14_Ser15insArgLeu
NM_001169111.2:c.37_42dup (SCO2)	NP_001162582.1:p.Leu14_Ser15insArgLeu