Canonical Allele Identifier: CA2580612567

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2573284
• ClinVar RCV Id: RCV003316973

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476403_47476406delinsCAAT , CM000664.2:g.47476403_47476406delinsCAAT	GRCh38
NC_000002.11:g.47703542_47703545delinsCAAT , CM000664.1:g.47703542_47703545delinsCAAT	GRCh37
NC_000002.10:g.47557046_47557049delinsCAAT	NCBI36
NG_007110.2:g.78280_78283delinsCAAT , LRG_218:g.78280_78283delinsCAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2042_2045delinsCAAT	ENSP00000495641.2:p.Gln681_Thr682delinsProIle
ENST00000233146.7:c.2042_2045delinsCAAT MANE Select	ENSP00000233146.2:p.Gln681_Thr682delinsProIle
ENST00000543555.6:c.1844_1847delinsCAAT	ENSP00000442697.1:p.Gln615_Thr616delinsProIle
ENST00000644092.1:c.*342_*345delinsCAAT	ENSP00000496351.1:n.*342_*345delinsCAAT
ENST00000645339.1:c.2042_2045delinsCAAT	ENSP00000496441.1:p.Gln681_Thr682delinsProIle
ENST00000645506.1:c.2042_2045delinsCAAT	ENSP00000495455.1:p.Gln681_Thr682delinsProIle
ENST00000646415.1:c.2042_2045delinsCAAT	ENSP00000495543.1:p.Gln681_Thr682delinsProIle
ENST00000233146.6:c.2042_2045delinsCAAT	ENSP00000233146.2:p.Gln681_Thr682delinsProIle
ENST00000406134.5:c.2042_2045delinsCAAT	ENSP00000384199.1:p.Gln681_Thr682delinsProIle
ENST00000543555.5:c.1844_1847delinsCAAT	ENSP00000442697.1:p.Gln615_Thr616delinsProIle
ENST00000610696.4:c.*438_*441delinsCAAT	ENSP00000483159.1:n.*438_*441delinsCAAT
ENST00000613514.4:c.*582_*585delinsCAAT	ENSP00000484137.1:n.*582_*585delinsCAAT
ENST00000617333.3:c.*808_*811delinsCAAT	ENSP00000482468.1:n.*808_*811delinsCAAT
ENST00000617938.4:c.*1014_*1017delinsCAAT	ENSP00000481158.1:n.*1014_*1017delinsCAAT
ENST00000621359.2:c.2042_2045delinsCAAT	ENSP00000481416.1:p.Gln681_Thr682delinsProIle
NM_000251.2:c.2042_2045delinsCAAT , LRG_218t1:c.2042_2045delinsCAAT	NP_000242.1:p.Gln681_Thr682delinsProIle
NM_001258281.1:c.1844_1847delinsCAAT	NP_001245210.1:p.Gln615_Thr616delinsProIle
XM_005264332.2:c.2042_2045delinsCAAT	XP_005264389.2:p.Gln681_Thr682delinsProIle
XM_011532867.1:c.2042_2045delinsCAAT	XP_011531169.1:p.Gln681_Thr682delinsProIle
XR_939685.1:n.2114_2117delinsCAAT
XM_005264332.4:c.2042_2045delinsCAAT	XP_005264389.2:p.Gln681_Thr682delinsProIle
XM_011532867.2:c.2042_2045delinsCAAT	XP_011531169.1:p.Gln681_Thr682delinsProIle
XR_001738747.2:n.2104_2107delinsCAAT
XR_939685.2:n.2104_2107delinsCAAT
NM_000251.3:c.2042_2045delinsCAAT MANE Select	NP_000242.1:p.Gln681_Thr682delinsProIle