Canonical Allele Identifier: CA2580067053

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1782582
• ClinVar RCV Id: RCV002410615

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475181_47475192delinsT , CM000664.2:g.47475181_47475192delinsT	GRCh38
NC_000002.11:g.47702320_47702331delinsT , CM000664.1:g.47702320_47702331delinsT	GRCh37
NC_000002.10:g.47555824_47555835delinsT	NCBI36
NG_007110.2:g.77058_77069delinsT , LRG_218:g.77058_77069delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1916_1927delinsT	ENSP00000495641.2:p.His639LeufsTer5
ENST00000233146.7:c.1916_1927delinsT MANE Select	ENSP00000233146.2:p.His639LeufsTer5
ENST00000543555.6:c.1718_1729delinsT	ENSP00000442697.1:p.His573LeufsTer5
ENST00000644092.1:c.*216_*227delinsT	ENSP00000496351.1:n.*216_*227delinsT
ENST00000645339.1:c.1916_1927delinsT	ENSP00000496441.1:p.His639LeufsTer5
ENST00000645506.1:c.1916_1927delinsT	ENSP00000495455.1:p.His639LeufsTer5
ENST00000646415.1:c.1916_1927delinsT	ENSP00000495543.1:p.His639LeufsTer5
ENST00000233146.6:c.1916_1927delinsT	ENSP00000233146.2:p.His639LeufsTer5
ENST00000406134.5:c.1916_1927delinsT	ENSP00000384199.1:p.His639LeufsTer5
ENST00000543555.5:c.1718_1729delinsT	ENSP00000442697.1:p.His573LeufsTer5
ENST00000610696.4:c.*312_*323delinsT	ENSP00000483159.1:n.*312_*323delinsT
ENST00000613514.4:c.*456_*467delinsT	ENSP00000484137.1:n.*456_*467delinsT
ENST00000617333.3:c.*682_*693delinsT	ENSP00000482468.1:n.*682_*693delinsT
ENST00000617938.4:c.*888_*899delinsT	ENSP00000481158.1:n.*888_*899delinsT
ENST00000621359.2:c.1916_1927delinsT	ENSP00000481416.1:p.His639LeufsTer5
NM_000251.2:c.1916_1927delinsT , LRG_218t1:c.1916_1927delinsT	NP_000242.1:p.His639LeufsTer5
NM_001258281.1:c.1718_1729delinsT	NP_001245210.1:p.His573LeufsTer5
XM_005264332.2:c.1916_1927delinsT	XP_005264389.2:p.His639LeufsTer5
XM_011532867.1:c.1916_1927delinsT	XP_011531169.1:p.His639LeufsTer5
XR_939685.1:n.1988_1999delinsT
XM_005264332.4:c.1916_1927delinsT	XP_005264389.2:p.His639LeufsTer5
XM_011532867.2:c.1916_1927delinsT	XP_011531169.1:p.His639LeufsTer5
XR_001738747.2:n.1978_1989delinsT
XR_939685.2:n.1978_1989delinsT
NM_000251.3:c.1916_1927delinsT MANE Select	NP_000242.1:p.His639LeufsTer5