Canonical Allele Identifier: CA2495872408

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475059_47475060delinsGT , CM000664.2:g.47475059_47475060delinsGT	GRCh38
NC_000002.11:g.47702198_47702199delinsGT , CM000664.1:g.47702198_47702199delinsGT	GRCh37
NC_000002.10:g.47555702_47555703delinsGT	NCBI36
NG_007110.2:g.76936_76937delinsGT , LRG_218:g.76936_76937delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1794_1795delinsGT	ENSP00000495641.2:p.Val598=
ENST00000233146.7:c.1794_1795delinsGT MANE Select	ENSP00000233146.2:p.Val598=
ENST00000543555.6:c.1596_1597delinsGT	ENSP00000442697.1:p.Val532=
ENST00000644092.1:c.*94_*95delinsGT	ENSP00000496351.1:n.*94_*95delinsGT
ENST00000645339.1:c.1794_1795delinsGT	ENSP00000496441.1:p.Val598=
ENST00000645506.1:c.1794_1795delinsGT	ENSP00000495455.1:p.Val598=
ENST00000646415.1:c.1794_1795delinsGT	ENSP00000495543.1:p.Val598=
ENST00000233146.6:c.1794_1795delinsGT	ENSP00000233146.2:p.Val598=
ENST00000406134.5:c.1794_1795delinsGT	ENSP00000384199.1:p.Val598=
ENST00000543555.5:c.1596_1597delinsGT	ENSP00000442697.1:p.Val532=
ENST00000610696.4:c.*190_*191delinsGT	ENSP00000483159.1:n.*190_*191delinsGT
ENST00000613514.4:c.*334_*335delinsGT	ENSP00000484137.1:n.*334_*335delinsGT
ENST00000617333.3:c.*560_*561delinsGT	ENSP00000482468.1:n.*560_*561delinsGT
ENST00000617938.4:c.*766_*767delinsGT	ENSP00000481158.1:n.*766_*767delinsGT
ENST00000621359.2:c.1794_1795delinsGT	ENSP00000481416.1:p.Val598=
NM_000251.2:c.1794_1795delinsGT , LRG_218t1:c.1794_1795delinsGT	NP_000242.1:p.Val598=
NM_001258281.1:c.1596_1597delinsGT	NP_001245210.1:p.Val532=
XM_005264332.2:c.1794_1795delinsGT	XP_005264389.2:p.Val598=
XM_011532867.1:c.1794_1795delinsGT	XP_011531169.1:p.Val598=
XR_939685.1:n.1866_1867delinsGT
XM_005264332.4:c.1794_1795delinsGT	XP_005264389.2:p.Val598=
XM_011532867.2:c.1794_1795delinsGT	XP_011531169.1:p.Val598=
XR_001738747.2:n.1856_1857delinsGT
XR_939685.2:n.1856_1857delinsGT
NM_000251.3:c.1794_1795delinsGT MANE Select	NP_000242.1:p.Val598=