Canonical Allele Identifier: CA2580067040

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1782113
• ClinVar RCV Id: RCV002408068

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475159_47475181del , CM000664.2:g.47475159_47475181del	GRCh38
NC_000002.11:g.47702298_47702320del , CM000664.1:g.47702298_47702320del	GRCh37
NC_000002.10:g.47555802_47555824del	NCBI36
NG_007110.2:g.77036_77058del , LRG_218:g.77036_77058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1894_1916del	ENSP00000495641.2:p.Ile632CysfsTer4
ENST00000233146.7:c.1894_1916del MANE Select	ENSP00000233146.2:p.Ile632CysfsTer4
ENST00000543555.6:c.1696_1718del	ENSP00000442697.1:p.Ile566CysfsTer4
ENST00000644092.1:c.*194_*216del	ENSP00000496351.1:n.*194_*216del
ENST00000645339.1:c.1894_1916del	ENSP00000496441.1:p.Ile632CysfsTer4
ENST00000645506.1:c.1894_1916del	ENSP00000495455.1:p.Ile632CysfsTer4
ENST00000646415.1:c.1894_1916del	ENSP00000495543.1:p.Ile632CysfsTer4
ENST00000233146.6:c.1894_1916del	ENSP00000233146.2:p.Ile632CysfsTer4
ENST00000406134.5:c.1894_1916del	ENSP00000384199.1:p.Ile632CysfsTer4
ENST00000543555.5:c.1696_1718del	ENSP00000442697.1:p.Ile566CysfsTer4
ENST00000610696.4:c.*290_*312del	ENSP00000483159.1:n.*290_*312del
ENST00000613514.4:c.*434_*456del	ENSP00000484137.1:n.*434_*456del
ENST00000617333.3:c.*660_*682del	ENSP00000482468.1:n.*660_*682del
ENST00000617938.4:c.*866_*888del	ENSP00000481158.1:n.*866_*888del
ENST00000621359.2:c.1894_1916del	ENSP00000481416.1:p.Ile632CysfsTer4
NM_000251.2:c.1894_1916del , LRG_218t1:c.1894_1916del	NP_000242.1:p.Ile632CysfsTer4
NM_001258281.1:c.1696_1718del	NP_001245210.1:p.Ile566CysfsTer4
XM_005264332.2:c.1894_1916del	XP_005264389.2:p.Ile632CysfsTer4
XM_011532867.1:c.1894_1916del	XP_011531169.1:p.Ile632CysfsTer4
XR_939685.1:n.1966_1988del
XM_005264332.4:c.1894_1916del	XP_005264389.2:p.Ile632CysfsTer4
XM_011532867.2:c.1894_1916del	XP_011531169.1:p.Ile632CysfsTer4
XR_001738747.2:n.1956_1978del
XR_939685.2:n.1956_1978del
NM_000251.3:c.1894_1916del MANE Select	NP_000242.1:p.Ile632CysfsTer4