Canonical Allele Identifier: CA2580066991

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1780890
• ClinVar RCV Id: RCV002410483

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475094_47475132delinsGA , CM000664.2:g.47475094_47475132delinsGA	GRCh38
NC_000002.11:g.47702233_47702271delinsGA , CM000664.1:g.47702233_47702271delinsGA	GRCh37
NC_000002.10:g.47555737_47555775delinsGA	NCBI36
NG_007110.2:g.76971_77009delinsGA , LRG_218:g.76971_77009delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1829_1867delinsGA	ENSP00000495641.2:p.His610ArgfsTer13
ENST00000233146.7:c.1829_1867delinsGA MANE Select	ENSP00000233146.2:p.His610ArgfsTer13
ENST00000543555.6:c.1631_1669delinsGA	ENSP00000442697.1:p.His544ArgfsTer13
ENST00000644092.1:c.*129_*167delinsGA	ENSP00000496351.1:n.*129_*167delinsGA
ENST00000645339.1:c.1829_1867delinsGA	ENSP00000496441.1:p.His610ArgfsTer13
ENST00000645506.1:c.1829_1867delinsGA	ENSP00000495455.1:p.His610ArgfsTer13
ENST00000646415.1:c.1829_1867delinsGA	ENSP00000495543.1:p.His610ArgfsTer13
ENST00000233146.6:c.1829_1867delinsGA	ENSP00000233146.2:p.His610ArgfsTer13
ENST00000406134.5:c.1829_1867delinsGA	ENSP00000384199.1:p.His610ArgfsTer13
ENST00000543555.5:c.1631_1669delinsGA	ENSP00000442697.1:p.His544ArgfsTer13
ENST00000610696.4:c.*225_*263delinsGA	ENSP00000483159.1:n.*225_*263delinsGA
ENST00000613514.4:c.*369_*407delinsGA	ENSP00000484137.1:n.*369_*407delinsGA
ENST00000617333.3:c.*595_*633delinsGA	ENSP00000482468.1:n.*595_*633delinsGA
ENST00000617938.4:c.*801_*839delinsGA	ENSP00000481158.1:n.*801_*839delinsGA
ENST00000621359.2:c.1829_1867delinsGA	ENSP00000481416.1:p.His610ArgfsTer13
NM_000251.2:c.1829_1867delinsGA , LRG_218t1:c.1829_1867delinsGA	NP_000242.1:p.His610ArgfsTer13
NM_001258281.1:c.1631_1669delinsGA	NP_001245210.1:p.His544ArgfsTer13
XM_005264332.2:c.1829_1867delinsGA	XP_005264389.2:p.His610ArgfsTer13
XM_011532867.1:c.1829_1867delinsGA	XP_011531169.1:p.His610ArgfsTer13
XR_939685.1:n.1901_1939delinsGA
XM_005264332.4:c.1829_1867delinsGA	XP_005264389.2:p.His610ArgfsTer13
XM_011532867.2:c.1829_1867delinsGA	XP_011531169.1:p.His610ArgfsTer13
XR_001738747.2:n.1891_1929delinsGA
XR_939685.2:n.1891_1929delinsGA
NM_000251.3:c.1829_1867delinsGA MANE Select	NP_000242.1:p.His610ArgfsTer13