Canonical Allele Identifier: CA2495872427

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475076_47475079delinsCTGT , CM000664.2:g.47475076_47475079delinsCTGT	GRCh38
NC_000002.11:g.47702215_47702218delinsCTGT , CM000664.1:g.47702215_47702218delinsCTGT	GRCh37
NC_000002.10:g.47555719_47555722delinsCTGT	NCBI36
NG_007110.2:g.76953_76956delinsCTGT , LRG_218:g.76953_76956delinsCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1811_1814delinsCTGT	ENSP00000495641.2:p.Ala604=
ENST00000233146.7:c.1811_1814delinsCTGT MANE Select	ENSP00000233146.2:p.Ala604=
ENST00000543555.6:c.1613_1616delinsCTGT	ENSP00000442697.1:p.Ala538=
ENST00000644092.1:c.*111_*114delinsCTGT	ENSP00000496351.1:n.*111_*114delinsCTGT
ENST00000645339.1:c.1811_1814delinsCTGT	ENSP00000496441.1:p.Ala604=
ENST00000645506.1:c.1811_1814delinsCTGT	ENSP00000495455.1:p.Ala604=
ENST00000646415.1:c.1811_1814delinsCTGT	ENSP00000495543.1:p.Ala604=
ENST00000233146.6:c.1811_1814delinsCTGT	ENSP00000233146.2:p.Ala604=
ENST00000406134.5:c.1811_1814delinsCTGT	ENSP00000384199.1:p.Ala604=
ENST00000543555.5:c.1613_1616delinsCTGT	ENSP00000442697.1:p.Ala538=
ENST00000610696.4:c.*207_*210delinsCTGT	ENSP00000483159.1:n.*207_*210delinsCTGT
ENST00000613514.4:c.*351_*354delinsCTGT	ENSP00000484137.1:n.*351_*354delinsCTGT
ENST00000617333.3:c.*577_*580delinsCTGT	ENSP00000482468.1:n.*577_*580delinsCTGT
ENST00000617938.4:c.*783_*786delinsCTGT	ENSP00000481158.1:n.*783_*786delinsCTGT
ENST00000621359.2:c.1811_1814delinsCTGT	ENSP00000481416.1:p.Ala604=
NM_000251.2:c.1811_1814delinsCTGT , LRG_218t1:c.1811_1814delinsCTGT	NP_000242.1:p.Ala604=
NM_001258281.1:c.1613_1616delinsCTGT	NP_001245210.1:p.Ala538=
XM_005264332.2:c.1811_1814delinsCTGT	XP_005264389.2:p.Ala604=
XM_011532867.1:c.1811_1814delinsCTGT	XP_011531169.1:p.Ala604=
XR_939685.1:n.1883_1886delinsCTGT
XM_005264332.4:c.1811_1814delinsCTGT	XP_005264389.2:p.Ala604=
XM_011532867.2:c.1811_1814delinsCTGT	XP_011531169.1:p.Ala604=
XR_001738747.2:n.1873_1876delinsCTGT
XR_939685.2:n.1873_1876delinsCTGT
NM_000251.3:c.1811_1814delinsCTGT MANE Select	NP_000242.1:p.Ala604=