Canonical Allele Identifier: CA913187942

Gene: MSH2

Linked Data

• ClinVar Variation Id: 928308
• ClinVar RCV Id: RCV001192099 ; RCV003988862
• dbSNP Id: rs1667248887

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475229del , CM000664.2:g.47475229del	GRCh38
NC_000002.11:g.47702368del , CM000664.1:g.47702368del	GRCh37
NC_000002.10:g.47555872del	NCBI36
NG_007110.2:g.77106del , LRG_218:g.77106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1964del	ENSP00000495641.2:p.Val655AspfsTer30
ENST00000233146.7:c.1964del MANE Select	ENSP00000233146.2:p.Val655AspfsTer30
ENST00000543555.6:c.1766del	ENSP00000442697.1:p.Val589AspfsTer30
ENST00000644092.1:c.*264del	ENSP00000496351.1:n.*264del
ENST00000645339.1:c.1964del	ENSP00000496441.1:p.Val655AspfsTer30
ENST00000645506.1:c.1964del	ENSP00000495455.1:p.Val655AspfsTer30
ENST00000646415.1:c.1964del	ENSP00000495543.1:p.Val655AspfsTer30
ENST00000233146.6:c.1964del	ENSP00000233146.2:p.Val655AspfsTer30
ENST00000406134.5:c.1964del	ENSP00000384199.1:p.Val655AspfsTer30
ENST00000543555.5:c.1766del	ENSP00000442697.1:p.Val589AspfsTer30
ENST00000610696.4:c.*360del	ENSP00000483159.1:n.*360del
ENST00000613514.4:c.*504del	ENSP00000484137.1:n.*504del
ENST00000617333.3:c.*730del	ENSP00000482468.1:n.*730del
ENST00000617938.4:c.*936del	ENSP00000481158.1:n.*936del
ENST00000621359.2:c.1964del	ENSP00000481416.1:p.Val655AspfsTer30
NM_000251.2:c.1964del , LRG_218t1:c.1964del	NP_000242.1:p.Val655AspfsTer30
NM_001258281.1:c.1766del	NP_001245210.1:p.Val589AspfsTer30
XM_005264332.2:c.1964del	XP_005264389.2:p.Val655AspfsTer30
XM_011532867.1:c.1964del	XP_011531169.1:p.Val655AspfsTer30
XR_939685.1:n.2036del
XM_005264332.4:c.1964del	XP_005264389.2:p.Val655AspfsTer30
XM_011532867.2:c.1964del	XP_011531169.1:p.Val655AspfsTer30
XR_001738747.2:n.2026del
XR_939685.2:n.2026del
NM_000251.3:c.1964del MANE Select	NP_000242.1:p.Val655AspfsTer30