Canonical Allele Identifier: CA2580066922

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1779886
• ClinVar RCV Id: RCV002403995

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475042_47475054del , CM000664.2:g.47475042_47475054del	GRCh38
NC_000002.11:g.47702181_47702193del , CM000664.1:g.47702181_47702193del	GRCh37
NC_000002.10:g.47555685_47555697del	NCBI36
NG_007110.2:g.76919_76931del , LRG_218:g.76919_76931del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1777_1789del	ENSP00000495641.2:p.Gln593MetfsTer3
ENST00000233146.7:c.1777_1789del MANE Select	ENSP00000233146.2:p.Gln593MetfsTer3
ENST00000543555.6:c.1579_1591del	ENSP00000442697.1:p.Gln527MetfsTer3
ENST00000644092.1:c.*77_*89del	ENSP00000496351.1:n.*77_*89del
ENST00000645339.1:c.1777_1789del	ENSP00000496441.1:p.Gln593MetfsTer3
ENST00000645506.1:c.1777_1789del	ENSP00000495455.1:p.Gln593MetfsTer3
ENST00000646415.1:c.1777_1789del	ENSP00000495543.1:p.Gln593MetfsTer3
ENST00000233146.6:c.1777_1789del	ENSP00000233146.2:p.Gln593MetfsTer3
ENST00000406134.5:c.1777_1789del	ENSP00000384199.1:p.Gln593MetfsTer3
ENST00000543555.5:c.1579_1591del	ENSP00000442697.1:p.Gln527MetfsTer3
ENST00000610696.4:c.*173_*185del	ENSP00000483159.1:n.*173_*185del
ENST00000613514.4:c.*317_*329del	ENSP00000484137.1:n.*317_*329del
ENST00000617333.3:c.*543_*555del	ENSP00000482468.1:n.*543_*555del
ENST00000617938.4:c.*749_*761del	ENSP00000481158.1:n.*749_*761del
ENST00000621359.2:c.1777_1789del	ENSP00000481416.1:p.Gln593MetfsTer3
NM_000251.2:c.1777_1789del , LRG_218t1:c.1777_1789del	NP_000242.1:p.Gln593MetfsTer3
NM_001258281.1:c.1579_1591del	NP_001245210.1:p.Gln527MetfsTer3
XM_005264332.2:c.1777_1789del	XP_005264389.2:p.Gln593MetfsTer3
XM_011532867.1:c.1777_1789del	XP_011531169.1:p.Gln593MetfsTer3
XR_939685.1:n.1849_1861del
XM_005264332.4:c.1777_1789del	XP_005264389.2:p.Gln593MetfsTer3
XM_011532867.2:c.1777_1789del	XP_011531169.1:p.Gln593MetfsTer3
XR_001738747.2:n.1839_1851del
XR_939685.2:n.1839_1851del
NM_000251.3:c.1777_1789del MANE Select	NP_000242.1:p.Gln593MetfsTer3