Canonical Allele Identifier: CA46684308

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1766790
• ClinVar RCV Id: RCV002373876
• dbSNP Id: rs796532309
• gnomAD v4: 2-47414410-C-CT
• MyVariant Identifiers: chr2:g.47641549_47641550insT (hg19) ; chr2:g.47414410_47414411insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414415dup , CM000664.2:g.47414415dup	GRCh38
NC_000002.11:g.47641554dup , CM000664.1:g.47641554dup	GRCh37
NC_000002.10:g.47495058dup	NCBI36
NG_007110.2:g.16292dup , LRG_218:g.16292dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.939dup	ENSP00000495641.2:p.Gln314SerfsTer5
ENST00000233146.7:c.939dup MANE Select	ENSP00000233146.2:p.Gln314SerfsTer5
ENST00000543555.6:c.741dup	ENSP00000442697.1:p.Gln248SerfsTer5
ENST00000644092.1:c.939dup	ENSP00000496351.1:p.Gln314SerfsTer5
ENST00000645339.1:c.939dup	ENSP00000496441.1:p.Gln314SerfsTer5
ENST00000645506.1:c.939dup	ENSP00000495455.1:p.Gln314SerfsTer5
ENST00000646415.1:c.939dup	ENSP00000495543.1:p.Gln314SerfsTer5
ENST00000233146.6:c.939dup	ENSP00000233146.2:p.Gln314SerfsTer5
ENST00000406134.5:c.939dup	ENSP00000384199.1:p.Gln314SerfsTer5
ENST00000543555.5:c.741dup	ENSP00000442697.1:p.Gln248SerfsTer5
ENST00000610696.4:c.939dup	ENSP00000483159.1:p.Gln314SerfsTer5
ENST00000613514.4:c.939dup	ENSP00000484137.1:p.Gln314SerfsTer5
ENST00000617333.3:c.939dup	ENSP00000482468.1:p.Gln314SerfsTer5
ENST00000617938.4:c.939dup	ENSP00000481158.1:p.Gln314SerfsTer5
ENST00000621359.2:c.939dup	ENSP00000481416.1:p.Gln314SerfsTer5
NM_000251.2:c.939dup , LRG_218t1:c.939dup	NP_000242.1:p.Gln314SerfsTer5
NM_001258281.1:c.741dup	NP_001245210.1:p.Gln248SerfsTer5
XM_005264332.2:c.939dup	XP_005264389.2:p.Gln314SerfsTer5
XM_011532867.1:c.939dup	XP_011531169.1:p.Gln314SerfsTer5
XR_939685.1:n.1011dup
XM_005264332.4:c.939dup	XP_005264389.2:p.Gln314SerfsTer5
XM_011532867.2:c.939dup	XP_011531169.1:p.Gln314SerfsTer5
XR_001738747.2:n.1001dup
XR_939685.2:n.1001dup
NM_000251.3:c.939dup MANE Select	NP_000242.1:p.Gln314SerfsTer5