Canonical Allele Identifier: CA1026668068

Gene: SCO2 NCAPH2

Linked Data

• dbSNP Id: rs2069223027
• gnomAD v3: 22-50524202-TCCAGC-T
• gnomAD v4: 22-50524202-TCCAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524205_50524209del , CM000684.2:g.50524205_50524209del	GRCh38
NC_000022.10:g.50962634_50962638del , CM000684.1:g.50962634_50962638del	GRCh37
NC_000022.9:g.49309500_49309504del	NCBI36
NG_011860.1:g.10879_10883del , LRG_727:g.10879_10883del
NG_016235.1:g.7233_7237del
NG_021419.1:g.20990_20994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.205_209del (SCO2) MANE Select	ENSP00000379046.4:p.Ala69ThrfsTer11
ENST00000420993.7:c.*830_*834del (NCAPH2) MANE Select	ENSP00000410088.2:n.*830_*834del
ENST00000543927.6:c.205_209del (SCO2)	ENSP00000444433.1:p.Ala69ThrfsTer11
ENST00000638598.2:c.205_209del (SCO2)	ENSP00000491753.2:p.Ala69ThrfsTer11
ENST00000252785.3:c.205_209del	ENSP00000252785.3:p.Ala69ThrfsTer11
ENST00000395693.7:c.205_209del	ENSP00000379046.3:p.Ala69ThrfsTer11
ENST00000423348.1:c.205_209del	ENSP00000403570.1:p.Ala69ThrfsTer11
ENST00000439934.5:c.205_209del	ENSP00000415642.1:p.Ala69ThrfsTer11
ENST00000535425.5:c.205_209del	ENSP00000444242.1:p.Ala69ThrfsTer11
ENST00000543927.5:c.205_209del	ENSP00000444433.1:p.Ala69ThrfsTer11
NM_001169109.1:c.205_209del (SCO2)	NP_001162580.1:p.Ala69ThrfsTer11
NM_001169110.1:c.205_209del (SCO2)	NP_001162581.1:p.Ala69ThrfsTer11
NM_001169111.1:c.205_209del (SCO2)	NP_001162582.1:p.Ala69ThrfsTer11
NM_001185011.1:c.*830_*834del (NCAPH2)	NP_001171940.1:n.*830_*834del
NM_005138.2:c.205_209del (SCO2)	NP_005129.2:p.Ala69ThrfsTer11
NM_152299.3:c.*830_*834del (NCAPH2)	NP_689512.2:n.*830_*834del
XR_001755232.1:n.2858_2862del (NCAPH2)
NM_152299.4:c.*830_*834del (NCAPH2) MANE Select	NP_689512.2:n.*830_*834del
NM_001185011.2:c.*830_*834del (NCAPH2)	NP_001171940.1:n.*830_*834del
NM_005138.3:c.205_209del (SCO2) MANE Select	NP_005129.2:p.Ala69ThrfsTer11
NM_001169109.2:c.205_209del (SCO2)	NP_001162580.1:p.Ala69ThrfsTer11
NM_001169111.2:c.205_209del (SCO2)	NP_001162582.1:p.Ala69ThrfsTer11