Canonical Allele Identifier: CA2410906139

Gene: SCO2 NCAPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524177_50524179delinsTCA , CM000684.2:g.50524177_50524179delinsTCA	GRCh38
NC_000022.10:g.50962606_50962608delinsTCA , CM000684.1:g.50962606_50962608delinsTCA	GRCh37
NC_000022.9:g.49309472_49309474delinsTCA	NCBI36
NG_011860.1:g.10907_10909delinsTGA , LRG_727:g.10907_10909delinsTGA
NG_016235.1:g.7261_7263delinsTGA
NG_021419.1:g.20962_20964delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.233_235delinsTGA (SCO2) MANE Select	ENSP00000379046.4:p.Leu78=
ENST00000420993.7:c.*802_*804delinsTCA (NCAPH2) MANE Select	ENSP00000410088.2:n.*802_*804delinsTCA
ENST00000543927.6:c.233_235delinsTGA (SCO2)	ENSP00000444433.1:p.Leu78=
ENST00000638598.2:c.233_235delinsTGA (SCO2)	ENSP00000491753.2:p.Leu78=
ENST00000252785.3:c.233_235delinsTGA	ENSP00000252785.3:p.Leu78=
ENST00000395693.7:c.233_235delinsTGA	ENSP00000379046.3:p.Leu78=
ENST00000423348.1:c.233_235delinsTGA	ENSP00000403570.1:p.Leu78=
ENST00000439934.5:c.233_235delinsTGA	ENSP00000415642.1:p.Leu78=
ENST00000535425.5:c.233_235delinsTGA	ENSP00000444242.1:p.Leu78=
ENST00000543927.5:c.233_235delinsTGA	ENSP00000444433.1:p.Leu78=
NM_001169109.1:c.233_235delinsTGA (SCO2)	NP_001162580.1:p.Leu78=
NM_001169110.1:c.233_235delinsTGA (SCO2)	NP_001162581.1:p.Leu78=
NM_001169111.1:c.233_235delinsTGA (SCO2)	NP_001162582.1:p.Leu78=
NM_001185011.1:c.*802_*804delinsTCA (NCAPH2)	NP_001171940.1:n.*802_*804delinsTCA
NM_005138.2:c.233_235delinsTGA (SCO2)	NP_005129.2:p.Leu78=
NM_152299.3:c.*802_*804delinsTCA (NCAPH2)	NP_689512.2:n.*802_*804delinsTCA
XR_001755232.1:n.2830_2832delinsTCA (NCAPH2)
NM_152299.4:c.*802_*804delinsTCA (NCAPH2) MANE Select	NP_689512.2:n.*802_*804delinsTCA
NM_001185011.2:c.*802_*804delinsTCA (NCAPH2)	NP_001171940.1:n.*802_*804delinsTCA
NM_005138.3:c.233_235delinsTGA (SCO2) MANE Select	NP_005129.2:p.Leu78=
NM_001169109.2:c.233_235delinsTGA (SCO2)	NP_001162580.1:p.Leu78=
NM_001169111.2:c.233_235delinsTGA (SCO2)	NP_001162582.1:p.Leu78=