Canonical Allele Identifier: CA2495843699
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47429890_47429892delinsCAG , CM000664.2:g.47429890_47429892delinsCAG GRCh38
NC_000002.11:g.47657029_47657031delinsCAG , CM000664.1:g.47657029_47657031delinsCAG GRCh37
NC_000002.10:g.47510533_47510535delinsCAG NCBI36
NG_007110.2:g.31767_31769delinsCAG , LRG_218:g.31767_31769delinsCAG

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1225_1227delinsCAG ENSP00000495641.2:p.Gln409=
ENST00000233146.7:c.1225_1227delinsCAG MANE Select ENSP00000233146.2:p.Gln409=
ENST00000543555.6:c.1027_1029delinsCAG ENSP00000442697.1:p.Gln343=
ENST00000644092.1:c.1225_1227delinsCAG ENSP00000496351.1:p.Gln409=
ENST00000645339.1:c.1225_1227delinsCAG ENSP00000496441.1:p.Gln409=
ENST00000645506.1:c.1225_1227delinsCAG ENSP00000495455.1:p.Gln409=
ENST00000646415.1:c.1225_1227delinsCAG ENSP00000495543.1:p.Gln409=
ENST00000233146.6:c.1225_1227delinsCAG ENSP00000233146.2:p.Gln409=
ENST00000406134.5:c.1225_1227delinsCAG ENSP00000384199.1:p.Gln409=
ENST00000543555.5:c.1027_1029delinsCAG ENSP00000442697.1:p.Gln343=
ENST00000610696.4:c.1225_1227delinsCAG ENSP00000483159.1:p.Gln409=
ENST00000613514.4:c.1225_1227delinsCAG ENSP00000484137.1:p.Gln409=
ENST00000617333.3:c.1224_1226delinsCAG ENSP00000482468.1:p.Ile408=
ENST00000617938.4:c.*197_*199delinsCAG ENSP00000481158.1:n.*197_*199delinsCAG
ENST00000621359.2:c.1225_1227delinsCAG ENSP00000481416.1:p.Gln409=
NM_000251.2:c.1225_1227delinsCAG , LRG_218t1:c.1225_1227delinsCAG NP_000242.1:p.Gln409=
NM_001258281.1:c.1027_1029delinsCAG NP_001245210.1:p.Gln343=
XM_005264332.2:c.1225_1227delinsCAG XP_005264389.2:p.Gln409=
XM_011532867.1:c.1225_1227delinsCAG XP_011531169.1:p.Gln409=
XR_939685.1:n.1297_1299delinsCAG
XM_005264332.4:c.1225_1227delinsCAG XP_005264389.2:p.Gln409=
XM_011532867.2:c.1225_1227delinsCAG XP_011531169.1:p.Gln409=
XR_001738747.2:n.1287_1289delinsCAG
XR_939685.2:n.1287_1289delinsCAG
NM_000251.3:c.1225_1227delinsCAG MANE Select NP_000242.1:p.Gln409=