Canonical Allele Identifier: CA2580066925

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1790100
• ClinVar RCV Id: RCV002448495

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478419del , CM000664.2:g.47478419del	GRCh38
NC_000002.11:g.47705558del , CM000664.1:g.47705558del	GRCh37
NC_000002.10:g.47559062del	NCBI36
NG_007110.2:g.80296del , LRG_218:g.80296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2358del	ENSP00000495641.2:p.Glu786AspfsTer26
ENST00000233146.7:c.2358del MANE Select	ENSP00000233146.2:p.Glu786AspfsTer26
ENST00000543555.6:c.2160del	ENSP00000442697.1:p.Glu720AspfsTer26
ENST00000644092.1:c.*658del	ENSP00000496351.1:n.*658del
ENST00000644900.1:c.211del
ENST00000645339.1:c.2358del	ENSP00000496441.1:p.Glu786AspfsTer26
ENST00000645506.1:c.2358del	ENSP00000495455.1:p.Glu786AspfsTer26
ENST00000646415.1:c.2358del	ENSP00000495543.1:p.Glu786AspfsTer26
ENST00000233146.6:c.2358del	ENSP00000233146.2:p.Glu786AspfsTer26
ENST00000406134.5:c.2358del	ENSP00000384199.1:p.Glu786AspfsTer26
ENST00000543555.5:c.2160del	ENSP00000442697.1:p.Glu720AspfsTer26
ENST00000610696.4:c.*754del	ENSP00000483159.1:n.*754del
ENST00000613514.4:c.*898del	ENSP00000484137.1:n.*898del
ENST00000617333.3:c.*1124del	ENSP00000482468.1:n.*1124del
ENST00000617938.4:c.*1330del	ENSP00000481158.1:n.*1330del
ENST00000621359.2:c.2357del	ENSP00000481416.1:p.Asn786ThrfsTer12
NM_000251.2:c.2358del , LRG_218t1:c.2358del	NP_000242.1:p.Glu786AspfsTer26
NM_001258281.1:c.2160del	NP_001245210.1:p.Glu720AspfsTer26
XM_005264332.2:c.2358del	XP_005264389.2:p.Glu786AspfsTer26
XM_011532867.1:c.2358del	XP_011531169.1:p.Glu786AspfsTer26
XR_939685.1:n.2430del
XM_005264332.4:c.2358del	XP_005264389.2:p.Glu786AspfsTer26
XM_011532867.2:c.2358del	XP_011531169.1:p.Glu786AspfsTer26
XR_001738747.2:n.2420del
XR_939685.2:n.2420del
NM_000251.3:c.2358del MANE Select	NP_000242.1:p.Glu786AspfsTer26