Canonical Allele Identifier: CA2499216068

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1049506
• ClinVar RCV Id: RCV001355695 ; RCV002447444
• dbSNP Id: rs2104401876

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478341del , CM000664.2:g.47478341del	GRCh38
NC_000002.11:g.47705480del , CM000664.1:g.47705480del	GRCh37
NC_000002.10:g.47558984del	NCBI36
NG_007110.2:g.80218del , LRG_218:g.80218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2280del	ENSP00000495641.2:p.Phe760LeufsTer3
ENST00000233146.7:c.2280del MANE Select	ENSP00000233146.2:p.Phe760LeufsTer3
ENST00000543555.6:c.2082del	ENSP00000442697.1:p.Phe694LeufsTer3
ENST00000644092.1:c.*580del	ENSP00000496351.1:n.*580del
ENST00000644900.1:c.133del
ENST00000645339.1:c.2280del	ENSP00000496441.1:p.Phe760LeufsTer3
ENST00000645506.1:c.2280del	ENSP00000495455.1:p.Phe760LeufsTer3
ENST00000646415.1:c.2280del	ENSP00000495543.1:p.Phe760LeufsTer3
ENST00000233146.6:c.2280del	ENSP00000233146.2:p.Phe760LeufsTer3
ENST00000406134.5:c.2280del	ENSP00000384199.1:p.Phe760LeufsTer3
ENST00000543555.5:c.2082del	ENSP00000442697.1:p.Phe694LeufsTer3
ENST00000610696.4:c.*676del	ENSP00000483159.1:n.*676del
ENST00000613514.4:c.*820del	ENSP00000484137.1:n.*820del
ENST00000617333.3:c.*1046del	ENSP00000482468.1:n.*1046del
ENST00000617938.4:c.*1252del	ENSP00000481158.1:n.*1252del
ENST00000621359.2:c.2280del	ENSP00000481416.1:p.Phe760LeufsTer3
NM_000251.2:c.2280del , LRG_218t1:c.2280del	NP_000242.1:p.Phe760LeufsTer3
NM_001258281.1:c.2082del	NP_001245210.1:p.Phe694LeufsTer3
XM_005264332.2:c.2280del	XP_005264389.2:p.Phe760LeufsTer3
XM_011532867.1:c.2280del	XP_011531169.1:p.Phe760LeufsTer3
XR_939685.1:n.2352del
XM_005264332.4:c.2280del	XP_005264389.2:p.Phe760LeufsTer3
XM_011532867.2:c.2280del	XP_011531169.1:p.Phe760LeufsTer3
XR_001738747.2:n.2342del
XR_939685.2:n.2342del
NM_000251.3:c.2280del MANE Select	NP_000242.1:p.Phe760LeufsTer3