Canonical Allele Identifier: CA2410905932

Gene: SCO2 NCAPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523846_50523848delinsAAC , CM000684.2:g.50523846_50523848delinsAAC	GRCh38
NC_000022.10:g.50962275_50962277delinsAAC , CM000684.1:g.50962275_50962277delinsAAC	GRCh37
NC_000022.9:g.49309141_49309143delinsAAC	NCBI36
NG_011860.1:g.11238_11240delinsGTT , LRG_727:g.11238_11240delinsGTT
NG_016235.1:g.7592_7594delinsGTT
NG_021419.1:g.20631_20633delinsAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.564_566delinsGTT (SCO2) MANE Select	ENSP00000379046.4:p.Leu188=
ENST00000420993.7:c.*471_*473delinsAAC (NCAPH2) MANE Select	ENSP00000410088.2:n.*471_*473delinsAAC
ENST00000543927.6:c.564_566delinsGTT (SCO2)	ENSP00000444433.1:p.Leu188=
ENST00000252785.3:c.564_566delinsGTT	ENSP00000252785.3:p.Leu188=
ENST00000395693.7:c.564_566delinsGTT	ENSP00000379046.3:p.Leu188=
ENST00000535425.5:c.564_566delinsGTT	ENSP00000444242.1:p.Leu188=
ENST00000543927.5:c.564_566delinsGTT	ENSP00000444433.1:p.Leu188=
NM_001169109.1:c.564_566delinsGTT (SCO2)	NP_001162580.1:p.Leu188=
NM_001169110.1:c.564_566delinsGTT (SCO2)	NP_001162581.1:p.Leu188=
NM_001169111.1:c.564_566delinsGTT (SCO2)	NP_001162582.1:p.Leu188=
NM_001185011.1:c.*471_*473delinsAAC (NCAPH2)	NP_001171940.1:n.*471_*473delinsAAC
NM_005138.2:c.564_566delinsGTT (SCO2)	NP_005129.2:p.Leu188=
NM_152299.3:c.*471_*473delinsAAC (NCAPH2)	NP_689512.2:n.*471_*473delinsAAC
XR_001755232.1:n.2499_2501delinsAAC (NCAPH2)
NM_152299.4:c.*471_*473delinsAAC (NCAPH2) MANE Select	NP_689512.2:n.*471_*473delinsAAC
NM_001185011.2:c.*471_*473delinsAAC (NCAPH2)	NP_001171940.1:n.*471_*473delinsAAC
NM_005138.3:c.564_566delinsGTT (SCO2) MANE Select	NP_005129.2:p.Leu188=
NM_001169109.2:c.564_566delinsGTT (SCO2)	NP_001162580.1:p.Leu188=
NM_001169111.2:c.564_566delinsGTT (SCO2)	NP_001162582.1:p.Leu188=