Canonical Allele Identifier: CA645514882

Gene: MSH2

Linked Data

• COSMIC: COSM26122

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478420_47478421del , CM000664.2:g.47478420_47478421del	GRCh38
NC_000002.11:g.47705559_47705560del , CM000664.1:g.47705559_47705560del	GRCh37
NC_000002.10:g.47559063_47559064del	NCBI36
NG_007110.2:g.80297_80298del , LRG_218:g.80297_80298del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2359_2360del	ENSP00000495641.2:p.Leu787TyrfsTer11
ENST00000233146.7:c.2359_2360del MANE Select	ENSP00000233146.2:p.Leu787TyrfsTer11
ENST00000543555.6:c.2161_2162del	ENSP00000442697.1:p.Leu721TyrfsTer11
ENST00000644092.1:c.*659_*660del	ENSP00000496351.1:n.*659_*660del
ENST00000644900.1:c.212_213del
ENST00000645339.1:c.2359_2360del	ENSP00000496441.1:p.Leu787TyrfsTer11
ENST00000645506.1:c.2359_2360del	ENSP00000495455.1:p.Leu787TyrfsTer11
ENST00000646415.1:c.2359_2360del	ENSP00000495543.1:p.Leu787TyrfsTer11
ENST00000233146.6:c.2359_2360del	ENSP00000233146.2:p.Leu787TyrfsTer11
ENST00000406134.5:c.2359_2360del	ENSP00000384199.1:p.Leu787TyrfsTer11
ENST00000543555.5:c.2161_2162del	ENSP00000442697.1:p.Leu721TyrfsTer11
ENST00000610696.4:c.*755_*756del	ENSP00000483159.1:n.*755_*756del
ENST00000613514.4:c.*899_*900del	ENSP00000484137.1:n.*899_*900del
ENST00000617333.3:c.*1125_*1126del	ENSP00000482468.1:n.*1125_*1126del
ENST00000617938.4:c.*1331_*1332del	ENSP00000481158.1:n.*1331_*1332del
ENST00000621359.2:c.2358_2359del	ENSP00000481416.1:p.Leu787ThrfsTer?
NM_000251.2:c.2359_2360del , LRG_218t1:c.2359_2360del	NP_000242.1:p.Leu787TyrfsTer11
NM_001258281.1:c.2161_2162del	NP_001245210.1:p.Leu721TyrfsTer11
XM_005264332.2:c.2359_2360del	XP_005264389.2:p.Leu787TyrfsTer11
XM_011532867.1:c.2359_2360del	XP_011531169.1:p.Leu787TyrfsTer11
XR_939685.1:n.2431_2432del
XM_005264332.4:c.2359_2360del	XP_005264389.2:p.Leu787TyrfsTer11
XM_011532867.2:c.2359_2360del	XP_011531169.1:p.Leu787TyrfsTer11
XR_001738747.2:n.2421_2422del
XR_939685.2:n.2421_2422del
NM_000251.3:c.2359_2360del MANE Select	NP_000242.1:p.Leu787TyrfsTer11