Canonical Allele Identifier: CA2739274411

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2813110
• ClinVar RCV Id: RCV003760842

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480750dup , CM000664.2:g.47480750dup	GRCh38
NC_000002.11:g.47707889dup , CM000664.1:g.47707889dup	GRCh37
NC_000002.10:g.47561393dup	NCBI36
NG_007110.2:g.82627dup , LRG_218:g.82627dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2513dup	ENSP00000495641.2:p.His839AlafsTer7
ENST00000233146.7:c.2513dup MANE Select	ENSP00000233146.2:p.His839AlafsTer7
ENST00000543555.6:c.2315dup	ENSP00000442697.1:p.His773AlafsTer7
ENST00000644092.1:c.*813dup	ENSP00000496351.1:n.*813dup
ENST00000644900.1:c.366dup
ENST00000645339.1:c.2513dup	ENSP00000496441.1:p.His839AlafsTer7
ENST00000645506.1:c.2513dup	ENSP00000495455.1:p.His839AlafsTer7
ENST00000646415.1:c.2513dup	ENSP00000495543.1:p.His839AlafsTer7
ENST00000233146.6:c.2513dup	ENSP00000233146.2:p.His839AlafsTer7
ENST00000406134.5:c.2513dup	ENSP00000384199.1:p.His839AlafsTer7
ENST00000543555.5:c.2315dup	ENSP00000442697.1:p.His773AlafsTer7
ENST00000610696.4:c.*909dup	ENSP00000483159.1:n.*909dup
ENST00000613514.4:c.*1053dup	ENSP00000484137.1:n.*1053dup
ENST00000617333.3:c.*1279dup	ENSP00000482468.1:n.*1279dup
ENST00000617938.4:c.*1485dup	ENSP00000481158.1:n.*1485dup
ENST00000621359.2:c.*79dup	ENSP00000481416.1:n.*79dup
NM_000251.2:c.2513dup , LRG_218t1:c.2513dup	NP_000242.1:p.His839AlafsTer7
NM_001258281.1:c.2315dup	NP_001245210.1:p.His773AlafsTer7
XM_005264332.2:c.2513dup	XP_005264389.2:p.His839AlafsTer7
XM_011532867.1:c.2513dup	XP_011531169.1:p.His839AlafsTer7
XR_939685.1:n.2585dup
XM_005264332.4:c.2513dup	XP_005264389.2:p.His839AlafsTer7
XM_011532867.2:c.2513dup	XP_011531169.1:p.His839AlafsTer7
XR_001738747.2:n.2575dup
XR_939685.2:n.2575dup
NM_000251.3:c.2513dup MANE Select	NP_000242.1:p.His839AlafsTer7