Canonical Allele Identifier: CA2495873633

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476450T= , CM000664.2:g.47476450T=	GRCh38
NC_000002.11:g.47703589T= , CM000664.1:g.47703589T=	GRCh37
NC_000002.10:g.47557093T=	NCBI36
NG_007110.2:g.78327T= , LRG_218:g.78327T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000251.3:c.2089T= MANE Select	NP_000242.1:p.Cys697=
ENST00000233146.7:c.2089T= MANE Select	ENSP00000233146.2:p.Cys697=
NM_000251.2:c.2089T= , LRG_218t1:c.2089T=	NP_000242.1:p.Cys697=
NM_001258281.1:c.1891T=	NP_001245210.1:p.Cys631=
ENST00000233146.6:c.2089T=	ENSP00000233146.2:p.Cys697=
ENST00000406134.5:c.2089T=	ENSP00000384199.1:p.Cys697=
ENST00000543555.5:c.1891T=	ENSP00000442697.1:p.Cys631=
ENST00000543555.6:c.1891T=	ENSP00000442697.1:p.Cys631=
ENST00000610696.4:c.*485T=	ENSP00000483159.1:n.*485T=
ENST00000613514.4:c.*629T=	ENSP00000484137.1:n.*629T=
ENST00000617333.3:c.*855T=	ENSP00000482468.1:n.*855T=
ENST00000617938.4:c.*1061T=	ENSP00000481158.1:n.*1061T=
ENST00000621359.2:c.2089T=	ENSP00000481416.1:p.Cys697=
ENST00000644092.1:c.*389T=	ENSP00000496351.1:n.*389T=
ENST00000644900.2:c.2089T=	ENSP00000495641.2:p.Cys697=
ENST00000645339.1:c.2089T=	ENSP00000496441.1:p.Cys697=
ENST00000645506.1:c.2089T=	ENSP00000495455.1:p.Cys697=
ENST00000646415.1:c.2089T=	ENSP00000495543.1:p.Cys697=
XM_005264332.2:c.2089T=	XP_005264389.2:p.Cys697=
XM_005264332.4:c.2089T=	XP_005264389.2:p.Cys697=
XM_011532867.1:c.2089T=	XP_011531169.1:p.Cys697=
XM_011532867.2:c.2089T=	XP_011531169.1:p.Cys697=
XR_001738747.2:n.2151T=
XR_939685.1:n.2161T=
XR_939685.2:n.2151T=