Canonical Allele Identifier: CA2495833953

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414313_47414314delinsCT , CM000664.2:g.47414313_47414314delinsCT	GRCh38
NC_000002.11:g.47641452_47641453delinsCT , CM000664.1:g.47641452_47641453delinsCT	GRCh37
NC_000002.10:g.47494956_47494957delinsCT	NCBI36
NG_007110.2:g.16190_16191delinsCT , LRG_218:g.16190_16191delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.837_838delinsCT	ENSP00000495641.2:p.Leu279=
ENST00000233146.7:c.837_838delinsCT MANE Select	ENSP00000233146.2:p.Leu279=
ENST00000543555.6:c.639_640delinsCT	ENSP00000442697.1:p.Leu213=
ENST00000644092.1:c.837_838delinsCT	ENSP00000496351.1:p.Leu279=
ENST00000645339.1:c.837_838delinsCT	ENSP00000496441.1:p.Leu279=
ENST00000645506.1:c.837_838delinsCT	ENSP00000495455.1:p.Leu279=
ENST00000646415.1:c.837_838delinsCT	ENSP00000495543.1:p.Leu279=
ENST00000233146.6:c.837_838delinsCT	ENSP00000233146.2:p.Leu279=
ENST00000406134.5:c.837_838delinsCT	ENSP00000384199.1:p.Leu279=
ENST00000543555.5:c.639_640delinsCT	ENSP00000442697.1:p.Leu213=
ENST00000610696.4:c.837_838delinsCT	ENSP00000483159.1:p.Leu279=
ENST00000613514.4:c.837_838delinsCT	ENSP00000484137.1:p.Leu279=
ENST00000617333.3:c.837_838delinsCT	ENSP00000482468.1:p.Leu279=
ENST00000617938.4:c.837_838delinsCT	ENSP00000481158.1:p.Leu279=
ENST00000621359.2:c.837_838delinsCT	ENSP00000481416.1:p.Leu279=
NM_000251.2:c.837_838delinsCT , LRG_218t1:c.837_838delinsCT	NP_000242.1:p.Leu279=
NM_001258281.1:c.639_640delinsCT	NP_001245210.1:p.Leu213=
XM_005264332.2:c.837_838delinsCT	XP_005264389.2:p.Leu279=
XM_011532867.1:c.837_838delinsCT	XP_011531169.1:p.Leu279=
XR_939685.1:n.909_910delinsCT
XM_005264332.4:c.837_838delinsCT	XP_005264389.2:p.Leu279=
XM_011532867.2:c.837_838delinsCT	XP_011531169.1:p.Leu279=
XR_001738747.2:n.899_900delinsCT
XR_939685.2:n.899_900delinsCT
NM_000251.3:c.837_838delinsCT MANE Select	NP_000242.1:p.Leu279=