Canonical Allele Identifier: CA645372535

Gene: MSH2

Linked Data

• ClinVar Variation Id: 433896
• ClinVar RCV Id: RCV000503521 ; RCV001218798
• dbSNP Id: rs1553369164
• MyVariant Identifiers: chr2:g.47703645del (hg19) ; chr2:g.47476506del (hg38)
• PubMed: PMID:26437257 ; PMID:28874130

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476506del , CM000664.2:g.47476506del	GRCh38
NC_000002.11:g.47703645del , CM000664.1:g.47703645del	GRCh37
NC_000002.10:g.47557149del	NCBI36
NG_007110.2:g.78383del , LRG_218:g.78383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2145del	ENSP00000495641.2:p.Asp716ThrfsTer4
ENST00000233146.7:c.2145del MANE Select	ENSP00000233146.2:p.Asp716ThrfsTer4
ENST00000543555.6:c.1947del	ENSP00000442697.1:p.Asp650ThrfsTer4
ENST00000644092.1:c.*445del	ENSP00000496351.1:n.*445del
ENST00000645339.1:c.2145del	ENSP00000496441.1:p.Asp716ThrfsTer4
ENST00000645506.1:c.2145del	ENSP00000495455.1:p.Asp716ThrfsTer4
ENST00000646415.1:c.2145del	ENSP00000495543.1:p.Asp716ThrfsTer4
ENST00000233146.6:c.2145del	ENSP00000233146.2:p.Asp716ThrfsTer4
ENST00000406134.5:c.2145del	ENSP00000384199.1:p.Asp716ThrfsTer4
ENST00000543555.5:c.1947del	ENSP00000442697.1:p.Asp650ThrfsTer4
ENST00000610696.4:c.*541del	ENSP00000483159.1:n.*541del
ENST00000613514.4:c.*685del	ENSP00000484137.1:n.*685del
ENST00000617333.3:c.*911del	ENSP00000482468.1:n.*911del
ENST00000617938.4:c.*1117del	ENSP00000481158.1:n.*1117del
ENST00000621359.2:c.2145del	ENSP00000481416.1:p.Asp716ThrfsTer4
NM_000251.2:c.2145del , LRG_218t1:c.2145del	NP_000242.1:p.Asp716ThrfsTer4
NM_001258281.1:c.1947del	NP_001245210.1:p.Asp650ThrfsTer4
XM_005264332.2:c.2145del	XP_005264389.2:p.Asp716ThrfsTer4
XM_011532867.1:c.2145del	XP_011531169.1:p.Asp716ThrfsTer4
XR_939685.1:n.2217del
XM_005264332.4:c.2145del	XP_005264389.2:p.Asp716ThrfsTer4
XM_011532867.2:c.2145del	XP_011531169.1:p.Asp716ThrfsTer4
XR_001738747.2:n.2207del
XR_939685.2:n.2207del
NM_000251.3:c.2145del MANE Select	NP_000242.1:p.Asp716ThrfsTer4