Canonical Allele Identifier: CA2573134881

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1441820
• ClinVar RCV Id: RCV001941351
• dbSNP Id: rs2104459356

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482785del , CM000664.2:g.47482785del	GRCh38
NC_000002.11:g.47709924del , CM000664.1:g.47709924del	GRCh37
NC_000002.10:g.47563428del	NCBI36
NG_007110.2:g.84662del , LRG_218:g.84662del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2634+1914del	ENSP00000495641.2:n.2634+1914del
ENST00000233146.7:c.2641del MANE Select	ENSP00000233146.2:p.Glu881LysfsTer11
ENST00000543555.6:c.2443del	ENSP00000442697.1:p.Glu815LysfsTer11
ENST00000644092.1:c.*934+1914del	ENSP00000496351.1:n.*934+1914del
ENST00000644900.1:c.487+1914del
ENST00000645339.1:c.2634+1914del	ENSP00000496441.1:n.2634+1914del
ENST00000645506.1:c.2634+1914del	ENSP00000495455.1:n.2634+1914del
ENST00000646415.1:c.2634+1914del	ENSP00000495543.1:n.2634+1914del
ENST00000233146.6:c.2641del	ENSP00000233146.2:p.Glu881LysfsTer11
ENST00000406134.5:c.2634+1914del	ENSP00000384199.1:n.2634+1914del
ENST00000461394.5:n.75+1914del
ENST00000543555.5:c.2443del	ENSP00000442697.1:p.Glu815LysfsTer11
ENST00000610696.4:c.*1037del	ENSP00000483159.1:n.*1037del
ENST00000613514.4:c.*1181del	ENSP00000484137.1:n.*1181del
ENST00000617333.3:c.*1407del	ENSP00000482468.1:n.*1407del
ENST00000617938.4:c.*1613del	ENSP00000481158.1:n.*1613del
ENST00000621359.2:c.*207del	ENSP00000481416.1:n.*207del
NM_000251.2:c.2641del , LRG_218t1:c.2641del	NP_000242.1:p.Glu881LysfsTer11
NM_001258281.1:c.2443del	NP_001245210.1:p.Glu815LysfsTer11
XM_005264332.2:c.2634+1914del	XP_005264389.2:n.2634+1914del
XM_011532867.1:c.2634+1914del	XP_011531169.1:n.2634+1914del
XR_939685.1:n.2706+1914del
XM_005264332.4:c.2634+1914del	XP_005264389.2:n.2634+1914del
XM_011532867.2:c.2634+1914del	XP_011531169.1:n.2634+1914del
XR_001738747.2:n.2696+1914del
XR_939685.2:n.2696+1914del
NM_000251.3:c.2641del MANE Select	NP_000242.1:p.Glu881LysfsTer11