Canonical Allele Identifier: CA2495874570

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478392T= , CM000664.2:g.47478392T=	GRCh38
NC_000002.11:g.47705531T= , CM000664.1:g.47705531T=	GRCh37
NC_000002.10:g.47559035T=	NCBI36
NG_007110.2:g.80269T= , LRG_218:g.80269T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2331T=	ENSP00000495641.2:p.Phe777=
ENST00000233146.7:c.2331T= MANE Select	ENSP00000233146.2:p.Phe777=
ENST00000543555.6:c.2133T=	ENSP00000442697.1:p.Phe711=
ENST00000644092.1:c.*631T=	ENSP00000496351.1:n.*631T=
ENST00000644900.1:c.184T=
ENST00000645339.1:c.2331T=	ENSP00000496441.1:p.Phe777=
ENST00000645506.1:c.2331T=	ENSP00000495455.1:p.Phe777=
ENST00000646415.1:c.2331T=	ENSP00000495543.1:p.Phe777=
ENST00000233146.6:c.2331T=	ENSP00000233146.2:p.Phe777=
ENST00000406134.5:c.2331T=	ENSP00000384199.1:p.Phe777=
ENST00000543555.5:c.2133T=	ENSP00000442697.1:p.Phe711=
ENST00000610696.4:c.*727T=	ENSP00000483159.1:n.*727T=
ENST00000613514.4:c.*871T=	ENSP00000484137.1:n.*871T=
ENST00000617333.3:c.*1097T=	ENSP00000482468.1:n.*1097T=
ENST00000617938.4:c.*1303T=	ENSP00000481158.1:n.*1303T=
ENST00000621359.2:c.2331T=	ENSP00000481416.1:p.Phe777=
NM_000251.2:c.2331T= , LRG_218t1:c.2331T=	NP_000242.1:p.Phe777=
NM_001258281.1:c.2133T=	NP_001245210.1:p.Phe711=
XM_005264332.2:c.2331T=	XP_005264389.2:p.Phe777=
XM_011532867.1:c.2331T=	XP_011531169.1:p.Phe777=
XR_939685.1:n.2403T=
XM_005264332.4:c.2331T=	XP_005264389.2:p.Phe777=
XM_011532867.2:c.2331T=	XP_011531169.1:p.Phe777=
XR_001738747.2:n.2393T=
XR_939685.2:n.2393T=
NM_000251.3:c.2331T= MANE Select	NP_000242.1:p.Phe777=