Canonical Allele Identifier: CA2495873624

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476442_47476445delinsTTGT , CM000664.2:g.47476442_47476445delinsTTGT	GRCh38
NC_000002.11:g.47703581_47703584delinsTTGT , CM000664.1:g.47703581_47703584delinsTTGT	GRCh37
NC_000002.10:g.47557085_47557088delinsTTGT	NCBI36
NG_007110.2:g.78319_78322delinsTTGT , LRG_218:g.78319_78322delinsTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2081_2084delinsTTGT	ENSP00000495641.2:p.Phe694=
ENST00000233146.7:c.2081_2084delinsTTGT MANE Select	ENSP00000233146.2:p.Phe694=
ENST00000543555.6:c.1883_1886delinsTTGT	ENSP00000442697.1:p.Phe628=
ENST00000644092.1:c.*381_*384delinsTTGT	ENSP00000496351.1:n.*381_*384delinsTTGT
ENST00000645339.1:c.2081_2084delinsTTGT	ENSP00000496441.1:p.Phe694=
ENST00000645506.1:c.2081_2084delinsTTGT	ENSP00000495455.1:p.Phe694=
ENST00000646415.1:c.2081_2084delinsTTGT	ENSP00000495543.1:p.Phe694=
ENST00000233146.6:c.2081_2084delinsTTGT	ENSP00000233146.2:p.Phe694=
ENST00000406134.5:c.2081_2084delinsTTGT	ENSP00000384199.1:p.Phe694=
ENST00000543555.5:c.1883_1886delinsTTGT	ENSP00000442697.1:p.Phe628=
ENST00000610696.4:c.*477_*480delinsTTGT	ENSP00000483159.1:n.*477_*480delinsTTGT
ENST00000613514.4:c.*621_*624delinsTTGT	ENSP00000484137.1:n.*621_*624delinsTTGT
ENST00000617333.3:c.*847_*850delinsTTGT	ENSP00000482468.1:n.*847_*850delinsTTGT
ENST00000617938.4:c.*1053_*1056delinsTTGT	ENSP00000481158.1:n.*1053_*1056delinsTTGT
ENST00000621359.2:c.2081_2084delinsTTGT	ENSP00000481416.1:p.Phe694=
NM_000251.2:c.2081_2084delinsTTGT , LRG_218t1:c.2081_2084delinsTTGT	NP_000242.1:p.Phe694=
NM_001258281.1:c.1883_1886delinsTTGT	NP_001245210.1:p.Phe628=
XM_005264332.2:c.2081_2084delinsTTGT	XP_005264389.2:p.Phe694=
XM_011532867.1:c.2081_2084delinsTTGT	XP_011531169.1:p.Phe694=
XR_939685.1:n.2153_2156delinsTTGT
XM_005264332.4:c.2081_2084delinsTTGT	XP_005264389.2:p.Phe694=
XM_011532867.2:c.2081_2084delinsTTGT	XP_011531169.1:p.Phe694=
XR_001738747.2:n.2143_2146delinsTTGT
XR_939685.2:n.2143_2146delinsTTGT
NM_000251.3:c.2081_2084delinsTTGT MANE Select	NP_000242.1:p.Phe694=