Canonical Allele Identifier: CA2495873620

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476439_47476440delinsGT , CM000664.2:g.47476439_47476440delinsGT	GRCh38
NC_000002.11:g.47703578_47703579delinsGT , CM000664.1:g.47703578_47703579delinsGT	GRCh37
NC_000002.10:g.47557082_47557083delinsGT	NCBI36
NG_007110.2:g.78316_78317delinsGT , LRG_218:g.78316_78317delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2078_2079delinsGT	ENSP00000495641.2:p.Cys693=
ENST00000233146.7:c.2078_2079delinsGT MANE Select	ENSP00000233146.2:p.Cys693=
ENST00000543555.6:c.1880_1881delinsGT	ENSP00000442697.1:p.Cys627=
ENST00000644092.1:c.*378_*379delinsGT	ENSP00000496351.1:n.*378_*379delinsGT
ENST00000645339.1:c.2078_2079delinsGT	ENSP00000496441.1:p.Cys693=
ENST00000645506.1:c.2078_2079delinsGT	ENSP00000495455.1:p.Cys693=
ENST00000646415.1:c.2078_2079delinsGT	ENSP00000495543.1:p.Cys693=
ENST00000233146.6:c.2078_2079delinsGT	ENSP00000233146.2:p.Cys693=
ENST00000406134.5:c.2078_2079delinsGT	ENSP00000384199.1:p.Cys693=
ENST00000543555.5:c.1880_1881delinsGT	ENSP00000442697.1:p.Cys627=
ENST00000610696.4:c.*474_*475delinsGT	ENSP00000483159.1:n.*474_*475delinsGT
ENST00000613514.4:c.*618_*619delinsGT	ENSP00000484137.1:n.*618_*619delinsGT
ENST00000617333.3:c.*844_*845delinsGT	ENSP00000482468.1:n.*844_*845delinsGT
ENST00000617938.4:c.*1050_*1051delinsGT	ENSP00000481158.1:n.*1050_*1051delinsGT
ENST00000621359.2:c.2078_2079delinsGT	ENSP00000481416.1:p.Cys693=
NM_000251.2:c.2078_2079delinsGT , LRG_218t1:c.2078_2079delinsGT	NP_000242.1:p.Cys693=
NM_001258281.1:c.1880_1881delinsGT	NP_001245210.1:p.Cys627=
XM_005264332.2:c.2078_2079delinsGT	XP_005264389.2:p.Cys693=
XM_011532867.1:c.2078_2079delinsGT	XP_011531169.1:p.Cys693=
XR_939685.1:n.2150_2151delinsGT
XM_005264332.4:c.2078_2079delinsGT	XP_005264389.2:p.Cys693=
XM_011532867.2:c.2078_2079delinsGT	XP_011531169.1:p.Cys693=
XR_001738747.2:n.2140_2141delinsGT
XR_939685.2:n.2140_2141delinsGT
NM_000251.3:c.2078_2079delinsGT MANE Select	NP_000242.1:p.Cys693=