Canonical Allele Identifier: CA2501489267

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476577_47476578insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA , CM000664.2:g.47476577_47476578insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	GRCh38
NC_000002.11:g.47703716_47703717insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA , CM000664.1:g.47703716_47703717insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	GRCh37
NC_000002.10:g.47557220_47557221insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	NCBI36
NG_007110.2:g.78454_78455insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA , LRG_218:g.78454_78455insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	ENSP00000495641.2:n.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGT...
ENST00000233146.7:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA MANE Select	ENSP00000233146.2:n.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGT...
ENST00000543555.6:c.2012+6_2012+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	ENSP00000442697.1:n.2012+6_2012+7insCCTGCACTTCTTTCATTTGATTGGT...
ENST00000644092.1:c.*510+6_*510+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	ENSP00000496351.1:n.*510+6_*510+7insCCTGCACTTCTTTCATTTGATTGGT...
ENST00000644900.1:c.63+6_63+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA
ENST00000645339.1:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	ENSP00000496441.1:n.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGT...
ENST00000645506.1:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	ENSP00000495455.1:n.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGT...
ENST00000646415.1:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	ENSP00000495543.1:n.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGT...
ENST00000233146.6:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	ENSP00000233146.2:n.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGT...
ENST00000406134.5:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	ENSP00000384199.1:n.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGT...
ENST00000543555.5:c.2012+6_2012+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	ENSP00000442697.1:n.2012+6_2012+7insCCTGCACTTCTTTCATTTGATTGGT...
ENST00000610696.4:c.*606+6_*606+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	ENSP00000483159.1:n.*606+6_*606+7insCCTGCACTTCTTTCATTTGATTGGT...
ENST00000613514.4:c.*750+6_*750+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	ENSP00000484137.1:n.*750+6_*750+7insCCTGCACTTCTTTCATTTGATTGGT...
ENST00000617333.3:c.*976+6_*976+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	ENSP00000482468.1:n.*976+6_*976+7insCCTGCACTTCTTTCATTTGATTGGT...
ENST00000617938.4:c.*1182+6_*1182+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	ENSP00000481158.1:n.*1182+6_*1182+7insCCTGCACTTCTTTCATTTGATTG...
ENST00000621359.2:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	ENSP00000481416.1:n.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGT...
NM_000251.2:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA , LRG_218t1:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	NP_000242.1:n.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGAT...
NM_001258281.1:c.2012+6_2012+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	NP_001245210.1:n.2012+6_2012+7insCCTGCACTTCTTTCATTTGATTGGTGTT...
XM_005264332.2:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	XP_005264389.2:n.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTT...
XM_011532867.1:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	XP_011531169.1:n.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTT...
XR_939685.1:n.2282+6_2282+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA
XM_005264332.4:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	XP_005264389.2:n.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTT...
XM_011532867.2:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA	XP_011531169.1:n.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTT...
XR_001738747.2:n.2272+6_2272+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA
XR_939685.2:n.2272+6_2272+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA
NM_000251.3:c.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGATTGGAAAGGATGCGCTGTAAGAATGTTACATCTTATCATGTTCTTTTA MANE Select	NP_000242.1:n.2210+6_2210+7insCCTGCACTTCTTTCATTTGATTGGTGTTGAT...