Canonical Allele Identifier: CA325555931

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 1511706
• ClinVar RCV Id: RCV002043394
• dbSNP Id: rs891683561
• MyVariant Identifiers: chr22:g.50962604_50962606del (hg19) ; chr22:g.50524175_50524177del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524176_50524178del , CM000684.2:g.50524176_50524178del	GRCh38
NC_000022.10:g.50962605_50962607del , CM000684.1:g.50962605_50962607del	GRCh37
NC_000022.9:g.49309471_49309473del	NCBI36
NG_011860.1:g.10909_10911del , LRG_727:g.10909_10911del
NG_016235.1:g.7263_7265del
NG_021419.1:g.20961_20963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.235_237del (SCO2) MANE Select	ENSP00000379046.4:p.Arg79del
ENST00000420993.7:c.*801_*803del (NCAPH2) MANE Select	ENSP00000410088.2:n.*801_*803del
ENST00000543927.6:c.235_237del (SCO2)	ENSP00000444433.1:p.Arg79del
ENST00000638598.2:c.235_237del (SCO2)	ENSP00000491753.2:p.Arg79del
ENST00000252785.3:c.235_237del	ENSP00000252785.3:p.Arg79del
ENST00000395693.7:c.235_237del	ENSP00000379046.3:p.Arg79del
ENST00000423348.1:c.235_237del	ENSP00000403570.1:p.Arg79del
ENST00000439934.5:c.235_237del	ENSP00000415642.1:p.Arg79del
ENST00000535425.5:c.235_237del	ENSP00000444242.1:p.Arg79del
ENST00000543927.5:c.235_237del	ENSP00000444433.1:p.Arg79del
NM_001169109.1:c.235_237del (SCO2)	NP_001162580.1:p.Arg79del
NM_001169110.1:c.235_237del (SCO2)	NP_001162581.1:p.Arg79del
NM_001169111.1:c.235_237del (SCO2)	NP_001162582.1:p.Arg79del
NM_001185011.1:c.*801_*803del (NCAPH2)	NP_001171940.1:n.*801_*803del
NM_005138.2:c.235_237del (SCO2)	NP_005129.2:p.Arg79del
NM_152299.3:c.*801_*803del (NCAPH2)	NP_689512.2:n.*801_*803del
XR_001755232.1:n.2829_2831del (NCAPH2)
NM_152299.4:c.*801_*803del (NCAPH2) MANE Select	NP_689512.2:n.*801_*803del
NM_001185011.2:c.*801_*803del (NCAPH2)	NP_001171940.1:n.*801_*803del
NM_005138.3:c.235_237del (SCO2) MANE Select	NP_005129.2:p.Arg79del
NM_001169109.2:c.235_237del (SCO2)	NP_001162580.1:p.Arg79del
NM_001169111.2:c.235_237del (SCO2)	NP_001162582.1:p.Arg79del