Canonical Allele Identifier: CA2495876045

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480734C= , CM000664.2:g.47480734C=	GRCh38
NC_000002.11:g.47707873C= , CM000664.1:g.47707873C=	GRCh37
NC_000002.10:g.47561377C=	NCBI36
NG_007110.2:g.82611C= , LRG_218:g.82611C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2497C=	ENSP00000495641.2:p.Leu833=
ENST00000233146.7:c.2497C= MANE Select	ENSP00000233146.2:p.Leu833=
ENST00000543555.6:c.2299C=	ENSP00000442697.1:p.Leu767=
ENST00000644092.1:c.*797C=	ENSP00000496351.1:n.*797C=
ENST00000644900.1:c.350C=
ENST00000645339.1:c.2497C=	ENSP00000496441.1:p.Leu833=
ENST00000645506.1:c.2497C=	ENSP00000495455.1:p.Leu833=
ENST00000646415.1:c.2497C=	ENSP00000495543.1:p.Leu833=
ENST00000233146.6:c.2497C=	ENSP00000233146.2:p.Leu833=
ENST00000406134.5:c.2497C=	ENSP00000384199.1:p.Leu833=
ENST00000543555.5:c.2299C=	ENSP00000442697.1:p.Leu767=
ENST00000610696.4:c.*893C=	ENSP00000483159.1:n.*893C=
ENST00000613514.4:c.*1037C=	ENSP00000484137.1:n.*1037C=
ENST00000617333.3:c.*1263C=	ENSP00000482468.1:n.*1263C=
ENST00000617938.4:c.*1469C=	ENSP00000481158.1:n.*1469C=
ENST00000621359.2:c.*63C=	ENSP00000481416.1:n.*63C=
NM_000251.2:c.2497C= , LRG_218t1:c.2497C=	NP_000242.1:p.Leu833=
NM_001258281.1:c.2299C=	NP_001245210.1:p.Leu767=
XM_005264332.2:c.2497C=	XP_005264389.2:p.Leu833=
XM_011532867.1:c.2497C=	XP_011531169.1:p.Leu833=
XR_939685.1:n.2569C=
XM_005264332.4:c.2497C=	XP_005264389.2:p.Leu833=
XM_011532867.2:c.2497C=	XP_011531169.1:p.Leu833=
XR_001738747.2:n.2559C=
XR_939685.2:n.2559C=
NM_000251.3:c.2497C= MANE Select	NP_000242.1:p.Leu833=