Canonical Allele Identifier: CA2495874533

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478350A= , CM000664.2:g.47478350A=	GRCh38
NC_000002.11:g.47705489A= , CM000664.1:g.47705489A=	GRCh37
NC_000002.10:g.47558993A=	NCBI36
NG_007110.2:g.80227A= , LRG_218:g.80227A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2289A=	ENSP00000495641.2:p.Ala763=
ENST00000233146.7:c.2289A= MANE Select	ENSP00000233146.2:p.Ala763=
ENST00000543555.6:c.2091A=	ENSP00000442697.1:p.Ala697=
ENST00000644092.1:c.*589A=	ENSP00000496351.1:n.*589A=
ENST00000644900.1:c.142A=
ENST00000645339.1:c.2289A=	ENSP00000496441.1:p.Ala763=
ENST00000645506.1:c.2289A=	ENSP00000495455.1:p.Ala763=
ENST00000646415.1:c.2289A=	ENSP00000495543.1:p.Ala763=
ENST00000233146.6:c.2289A=	ENSP00000233146.2:p.Ala763=
ENST00000406134.5:c.2289A=	ENSP00000384199.1:p.Ala763=
ENST00000543555.5:c.2091A=	ENSP00000442697.1:p.Ala697=
ENST00000610696.4:c.*685A=	ENSP00000483159.1:n.*685A=
ENST00000613514.4:c.*829A=	ENSP00000484137.1:n.*829A=
ENST00000617333.3:c.*1055A=	ENSP00000482468.1:n.*1055A=
ENST00000617938.4:c.*1261A=	ENSP00000481158.1:n.*1261A=
ENST00000621359.2:c.2289A=	ENSP00000481416.1:p.Ala763=
NM_000251.2:c.2289A= , LRG_218t1:c.2289A=	NP_000242.1:p.Ala763=
NM_001258281.1:c.2091A=	NP_001245210.1:p.Ala697=
XM_005264332.2:c.2289A=	XP_005264389.2:p.Ala763=
XM_011532867.1:c.2289A=	XP_011531169.1:p.Ala763=
XR_939685.1:n.2361A=
XM_005264332.4:c.2289A=	XP_005264389.2:p.Ala763=
XM_011532867.2:c.2289A=	XP_011531169.1:p.Ala763=
XR_001738747.2:n.2351A=
XR_939685.2:n.2351A=
NM_000251.3:c.2289A= MANE Select	NP_000242.1:p.Ala763=