Canonical Allele Identifier: CA2580067124

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1784315
• ClinVar RCV Id: RCV002417252

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476367_47476368delinsTT , CM000664.2:g.47476367_47476368delinsTT	GRCh38
NC_000002.11:g.47703506_47703507delinsTT , CM000664.1:g.47703506_47703507delinsTT	GRCh37
NC_000002.10:g.47557010_47557011delinsTT	NCBI36
NG_007110.2:g.78244_78245delinsTT , LRG_218:g.78244_78245delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2006_2007delinsTT	ENSP00000495641.2:p.Gly669Val
ENST00000233146.7:c.2006_2007delinsTT MANE Select	ENSP00000233146.2:p.Gly669Val
ENST00000543555.6:c.1808_1809delinsTT	ENSP00000442697.1:p.Gly603Val
ENST00000644092.1:c.*306_*307delinsTT	ENSP00000496351.1:n.*306_*307delinsTT
ENST00000645339.1:c.2006_2007delinsTT	ENSP00000496441.1:p.Gly669Val
ENST00000645506.1:c.2006_2007delinsTT	ENSP00000495455.1:p.Gly669Val
ENST00000646415.1:c.2006_2007delinsTT	ENSP00000495543.1:p.Gly669Val
ENST00000233146.6:c.2006_2007delinsTT	ENSP00000233146.2:p.Gly669Val
ENST00000406134.5:c.2006_2007delinsTT	ENSP00000384199.1:p.Gly669Val
ENST00000543555.5:c.1808_1809delinsTT	ENSP00000442697.1:p.Gly603Val
ENST00000610696.4:c.*402_*403delinsTT	ENSP00000483159.1:n.*402_*403delinsTT
ENST00000613514.4:c.*546_*547delinsTT	ENSP00000484137.1:n.*546_*547delinsTT
ENST00000617333.3:c.*772_*773delinsTT	ENSP00000482468.1:n.*772_*773delinsTT
ENST00000617938.4:c.*978_*979delinsTT	ENSP00000481158.1:n.*978_*979delinsTT
ENST00000621359.2:c.2006_2007delinsTT	ENSP00000481416.1:p.Gly669Val
NM_000251.2:c.2006_2007delinsTT , LRG_218t1:c.2006_2007delinsTT	NP_000242.1:p.Gly669Val
NM_001258281.1:c.1808_1809delinsTT	NP_001245210.1:p.Gly603Val
XM_005264332.2:c.2006_2007delinsTT	XP_005264389.2:p.Gly669Val
XM_011532867.1:c.2006_2007delinsTT	XP_011531169.1:p.Gly669Val
XR_939685.1:n.2078_2079delinsTT
XM_005264332.4:c.2006_2007delinsTT	XP_005264389.2:p.Gly669Val
XM_011532867.2:c.2006_2007delinsTT	XP_011531169.1:p.Gly669Val
XR_001738747.2:n.2068_2069delinsTT
XR_939685.2:n.2068_2069delinsTT
NM_000251.3:c.2006_2007delinsTT MANE Select	NP_000242.1:p.Gly669Val