Canonical Allele Identifier: CA2695200678

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673474
• ClinVar RCV Id: RCV003450196

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47429893_47429905delinsTACAA , CM000664.2:g.47429893_47429905delinsTACAA	GRCh38
NC_000002.11:g.47657032_47657044delinsTACAA , CM000664.1:g.47657032_47657044delinsTACAA	GRCh37
NC_000002.10:g.47510536_47510548delinsTACAA	NCBI36
NG_007110.2:g.31770_31782delinsTACAA , LRG_218:g.31770_31782delinsTACAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1228_1240delinsTACAA	ENSP00000495641.2:p.Gly410TyrfsTer4
ENST00000233146.7:c.1228_1240delinsTACAA MANE Select	ENSP00000233146.2:p.Gly410TyrfsTer4
ENST00000543555.6:c.1030_1042delinsTACAA	ENSP00000442697.1:p.Gly344TyrfsTer4
ENST00000644092.1:c.1228_1240delinsTACAA	ENSP00000496351.1:p.Gly410TyrfsTer4
ENST00000645339.1:c.1228_1240delinsTACAA	ENSP00000496441.1:p.Gly410TyrfsTer4
ENST00000645506.1:c.1228_1240delinsTACAA	ENSP00000495455.1:p.Gly410TyrfsTer4
ENST00000646415.1:c.1228_1240delinsTACAA	ENSP00000495543.1:p.Gly410TyrfsTer4
ENST00000233146.6:c.1228_1240delinsTACAA	ENSP00000233146.2:p.Gly410TyrfsTer4
ENST00000406134.5:c.1228_1240delinsTACAA	ENSP00000384199.1:p.Gly410TyrfsTer4
ENST00000543555.5:c.1030_1042delinsTACAA	ENSP00000442697.1:p.Gly344TyrfsTer4
ENST00000610696.4:c.1228_1240delinsTACAA	ENSP00000483159.1:p.Gly410TyrfsTer4
ENST00000613514.4:c.1228_1240delinsTACAA	ENSP00000484137.1:p.Gly410TyrfsTer4
ENST00000617333.3:c.1227_*6delinsTACAA	ENSP00000482468.1:n.[c.1227_*6delinsTACAA...
ENST00000617938.4:c.*200_*212delinsTACAA	ENSP00000481158.1:n.*200_*212delinsTACAA
ENST00000621359.2:c.1228_1240delinsTACAA	ENSP00000481416.1:p.Gly410TyrfsTer4
NM_000251.2:c.1228_1240delinsTACAA , LRG_218t1:c.1228_1240delinsTACAA	NP_000242.1:p.Gly410TyrfsTer4
NM_001258281.1:c.1030_1042delinsTACAA	NP_001245210.1:p.Gly344TyrfsTer4
XM_005264332.2:c.1228_1240delinsTACAA	XP_005264389.2:p.Gly410TyrfsTer4
XM_011532867.1:c.1228_1240delinsTACAA	XP_011531169.1:p.Gly410TyrfsTer4
XR_939685.1:n.1300_1312delinsTACAA
XM_005264332.4:c.1228_1240delinsTACAA	XP_005264389.2:p.Gly410TyrfsTer4
XM_011532867.2:c.1228_1240delinsTACAA	XP_011531169.1:p.Gly410TyrfsTer4
XR_001738747.2:n.1290_1302delinsTACAA
XR_939685.2:n.1290_1302delinsTACAA
NM_000251.3:c.1228_1240delinsTACAA MANE Select	NP_000242.1:p.Gly410TyrfsTer4