Canonical Allele Identifier: CA2657559386

Gene: SCO2 NCAPH2

Linked Data

• gnomAD v4: 22-50524438-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524438_50524439insT , CM000684.2:g.50524438_50524439insT	GRCh38
NC_000022.10:g.50962867_50962868insT , CM000684.1:g.50962867_50962868insT	GRCh37
NC_000022.9:g.49309733_49309734insT	NCBI36
NG_011860.1:g.10647_10648insA , LRG_727:g.10647_10648insA
NG_016235.1:g.7001_7002insA
NG_021419.1:g.21223_21224insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.-13-15_-13-14insA (SCO2) MANE Select	ENSP00000379046.4:n.-13-15_-13-14insA
ENST00000420993.7:c.*1063_*1064insT (NCAPH2) MANE Select	ENSP00000410088.2:n.*1063_*1064insT
ENST00000543927.6:c.-13-15_-13-14insA (SCO2)	ENSP00000444433.1:n.-13-15_-13-14insA
ENST00000638598.2:c.-13-15_-13-14insA (SCO2)	ENSP00000491753.2:n.-13-15_-13-14insA
ENST00000252785.3:c.-13-15_-13-14insA	ENSP00000252785.3:n.-13-15_-13-14insA
ENST00000395693.7:c.-13-15_-13-14insA	ENSP00000379046.3:n.-13-15_-13-14insA
ENST00000423348.1:c.-13-15_-13-14insA	ENSP00000403570.1:n.-13-15_-13-14insA
ENST00000439934.5:c.-13-15_-13-14insA	ENSP00000415642.1:n.-13-15_-13-14insA
ENST00000535425.5:c.-13-15_-13-14insA	ENSP00000444242.1:n.-13-15_-13-14insA
ENST00000543927.5:c.-13-15_-13-14insA	ENSP00000444433.1:n.-13-15_-13-14insA
NM_001169109.1:c.-13-15_-13-14insA (SCO2)	NP_001162580.1:n.-13-15_-13-14insA
NM_001169110.1:c.-13-15_-13-14insA (SCO2)	NP_001162581.1:n.-13-15_-13-14insA
NM_001169111.1:c.-13-15_-13-14insA (SCO2)	NP_001162582.1:n.-13-15_-13-14insA
NM_001185011.1:c.*1063_*1064insT (NCAPH2)	NP_001171940.1:n.*1063_*1064insT
NM_005138.2:c.-13-15_-13-14insA (SCO2)	NP_005129.2:n.-13-15_-13-14insA
NM_152299.3:c.*1063_*1064insT (NCAPH2)	NP_689512.2:n.*1063_*1064insT
XR_001755232.1:n.3091_3092insT (NCAPH2)
NM_152299.4:c.*1063_*1064insT (NCAPH2) MANE Select	NP_689512.2:n.*1063_*1064insT
NM_001185011.2:c.*1063_*1064insT (NCAPH2)	NP_001171940.1:n.*1063_*1064insT
NM_005138.3:c.-13-15_-13-14insA (SCO2) MANE Select	NP_005129.2:n.-13-15_-13-14insA
NM_001169109.2:c.-13-15_-13-14insA (SCO2)	NP_001162580.1:n.-13-15_-13-14insA
NM_001169111.2:c.-13-15_-13-14insA (SCO2)	NP_001162582.1:n.-13-15_-13-14insA