Canonical Allele Identifier: CA640357307

Gene: SCO2 NCAPH2

Linked Data

• dbSNP Id: rs1219847867
• gnomAD v2: 22-50962478-GC-G
• gnomAD v4: 22-50524049-GC-G
• MyVariant Identifiers: chr22:g.50962479del (hg19) ; chr22:g.50524050del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524053del , CM000684.2:g.50524053del	GRCh38
NC_000022.10:g.50962482del , CM000684.1:g.50962482del	GRCh37
NC_000022.9:g.49309348del	NCBI36
NG_011860.1:g.11036del , LRG_727:g.11036del
NG_016235.1:g.7390del
NG_021419.1:g.20838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.362del (SCO2) MANE Select	ENSP00000379046.4:p.Gly121AlafsTer5
ENST00000420993.7:c.*678del (NCAPH2) MANE Select	ENSP00000410088.2:n.*678del
ENST00000543927.6:c.362del (SCO2)	ENSP00000444433.1:p.Gly121AlafsTer5
ENST00000638598.2:c.362del (SCO2)	ENSP00000491753.2:p.Gly121AlafsTer5
ENST00000252785.3:c.362del	ENSP00000252785.3:p.Gly121AlafsTer5
ENST00000395693.7:c.362del	ENSP00000379046.3:p.Gly121AlafsTer5
ENST00000423348.1:c.362del	ENSP00000403570.1:p.Gly121AlafsTer5
ENST00000439934.5:c.362del	ENSP00000415642.1:p.Gly121AlafsTer5
ENST00000535425.5:c.362del	ENSP00000444242.1:p.Gly121AlafsTer5
ENST00000543927.5:c.362del	ENSP00000444433.1:p.Gly121AlafsTer5
NM_001169109.1:c.362del (SCO2)	NP_001162580.1:p.Gly121AlafsTer5
NM_001169110.1:c.362del (SCO2)	NP_001162581.1:p.Gly121AlafsTer5
NM_001169111.1:c.362del (SCO2)	NP_001162582.1:p.Gly121AlafsTer5
NM_001185011.1:c.*678del (NCAPH2)	NP_001171940.1:n.*678del
NM_005138.2:c.362del (SCO2)	NP_005129.2:p.Gly121AlafsTer5
NM_152299.3:c.*678del (NCAPH2)	NP_689512.2:n.*678del
XR_001755232.1:n.2706del (NCAPH2)
NM_152299.4:c.*678del (NCAPH2) MANE Select	NP_689512.2:n.*678del
NM_001185011.2:c.*678del (NCAPH2)	NP_001171940.1:n.*678del
NM_005138.3:c.362del (SCO2) MANE Select	NP_005129.2:p.Gly121AlafsTer5
NM_001169109.2:c.362del (SCO2)	NP_001162580.1:p.Gly121AlafsTer5
NM_001169111.2:c.362del (SCO2)	NP_001162582.1:p.Gly121AlafsTer5