Canonical Allele Identifier: CA2580067038

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1782099
• ClinVar RCV Id: RCV002408054

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475158_47475164dup , CM000664.2:g.47475158_47475164dup	GRCh38
NC_000002.11:g.47702297_47702303dup , CM000664.1:g.47702297_47702303dup	GRCh37
NC_000002.10:g.47555801_47555807dup	NCBI36
NG_007110.2:g.77035_77041dup , LRG_218:g.77035_77041dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1893_1899dup	ENSP00000495641.2:p.Leu634AsnfsTer12
ENST00000233146.7:c.1893_1899dup MANE Select	ENSP00000233146.2:p.Leu634AsnfsTer12
ENST00000543555.6:c.1695_1701dup	ENSP00000442697.1:p.Leu568AsnfsTer12
ENST00000644092.1:c.*193_*199dup	ENSP00000496351.1:n.*193_*199dup
ENST00000645339.1:c.1893_1899dup	ENSP00000496441.1:p.Leu634AsnfsTer12
ENST00000645506.1:c.1893_1899dup	ENSP00000495455.1:p.Leu634AsnfsTer12
ENST00000646415.1:c.1893_1899dup	ENSP00000495543.1:p.Leu634AsnfsTer12
ENST00000233146.6:c.1893_1899dup	ENSP00000233146.2:p.Leu634AsnfsTer12
ENST00000406134.5:c.1893_1899dup	ENSP00000384199.1:p.Leu634AsnfsTer12
ENST00000543555.5:c.1695_1701dup	ENSP00000442697.1:p.Leu568AsnfsTer12
ENST00000610696.4:c.*289_*295dup	ENSP00000483159.1:n.*289_*295dup
ENST00000613514.4:c.*433_*439dup	ENSP00000484137.1:n.*433_*439dup
ENST00000617333.3:c.*659_*665dup	ENSP00000482468.1:n.*659_*665dup
ENST00000617938.4:c.*865_*871dup	ENSP00000481158.1:n.*865_*871dup
ENST00000621359.2:c.1893_1899dup	ENSP00000481416.1:p.Leu634AsnfsTer12
NM_000251.2:c.1893_1899dup , LRG_218t1:c.1893_1899dup	NP_000242.1:p.Leu634AsnfsTer12
NM_001258281.1:c.1695_1701dup	NP_001245210.1:p.Leu568AsnfsTer12
XM_005264332.2:c.1893_1899dup	XP_005264389.2:p.Leu634AsnfsTer12
XM_011532867.1:c.1893_1899dup	XP_011531169.1:p.Leu634AsnfsTer12
XR_939685.1:n.1965_1971dup
XM_005264332.4:c.1893_1899dup	XP_005264389.2:p.Leu634AsnfsTer12
XM_011532867.2:c.1893_1899dup	XP_011531169.1:p.Leu634AsnfsTer12
XR_001738747.2:n.1955_1961dup
XR_939685.2:n.1955_1961dup
NM_000251.3:c.1893_1899dup MANE Select	NP_000242.1:p.Leu634AsnfsTer12