Canonical Allele Identifier: CA2495874536

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478353G= , CM000664.2:g.47478353G=	GRCh38
NC_000002.11:g.47705492G= , CM000664.1:g.47705492G=	GRCh37
NC_000002.10:g.47558996G=	NCBI36
NG_007110.2:g.80230G= , LRG_218:g.80230G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2292G=	ENSP00000495641.2:p.Trp764=
ENST00000233146.7:c.2292G= MANE Select	ENSP00000233146.2:p.Trp764=
ENST00000543555.6:c.2094G=	ENSP00000442697.1:p.Trp698=
ENST00000644092.1:c.*592G=	ENSP00000496351.1:n.*592G=
ENST00000644900.1:c.145G=
ENST00000645339.1:c.2292G=	ENSP00000496441.1:p.Trp764=
ENST00000645506.1:c.2292G=	ENSP00000495455.1:p.Trp764=
ENST00000646415.1:c.2292G=	ENSP00000495543.1:p.Trp764=
ENST00000233146.6:c.2292G=	ENSP00000233146.2:p.Trp764=
ENST00000406134.5:c.2292G=	ENSP00000384199.1:p.Trp764=
ENST00000543555.5:c.2094G=	ENSP00000442697.1:p.Trp698=
ENST00000610696.4:c.*688G=	ENSP00000483159.1:n.*688G=
ENST00000613514.4:c.*832G=	ENSP00000484137.1:n.*832G=
ENST00000617333.3:c.*1058G=	ENSP00000482468.1:n.*1058G=
ENST00000617938.4:c.*1264G=	ENSP00000481158.1:n.*1264G=
ENST00000621359.2:c.2292G=	ENSP00000481416.1:p.Trp764=
NM_000251.2:c.2292G= , LRG_218t1:c.2292G=	NP_000242.1:p.Trp764=
NM_001258281.1:c.2094G=	NP_001245210.1:p.Trp698=
XM_005264332.2:c.2292G=	XP_005264389.2:p.Trp764=
XM_011532867.1:c.2292G=	XP_011531169.1:p.Trp764=
XR_939685.1:n.2364G=
XM_005264332.4:c.2292G=	XP_005264389.2:p.Trp764=
XM_011532867.2:c.2292G=	XP_011531169.1:p.Trp764=
XR_001738747.2:n.2354G=
XR_939685.2:n.2354G=
NM_000251.3:c.2292G= MANE Select	NP_000242.1:p.Trp764=