Canonical Allele Identifier: CA2495874535

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478352G= , CM000664.2:g.47478352G=	GRCh38
NC_000002.11:g.47705491G= , CM000664.1:g.47705491G=	GRCh37
NC_000002.10:g.47558995G=	NCBI36
NG_007110.2:g.80229G= , LRG_218:g.80229G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2291G=	ENSP00000495641.2:p.Trp764=
ENST00000233146.7:c.2291G= MANE Select	ENSP00000233146.2:p.Trp764=
ENST00000543555.6:c.2093G=	ENSP00000442697.1:p.Trp698=
ENST00000644092.1:c.*591G=	ENSP00000496351.1:n.*591G=
ENST00000644900.1:c.144G=
ENST00000645339.1:c.2291G=	ENSP00000496441.1:p.Trp764=
ENST00000645506.1:c.2291G=	ENSP00000495455.1:p.Trp764=
ENST00000646415.1:c.2291G=	ENSP00000495543.1:p.Trp764=
ENST00000233146.6:c.2291G=	ENSP00000233146.2:p.Trp764=
ENST00000406134.5:c.2291G=	ENSP00000384199.1:p.Trp764=
ENST00000543555.5:c.2093G=	ENSP00000442697.1:p.Trp698=
ENST00000610696.4:c.*687G=	ENSP00000483159.1:n.*687G=
ENST00000613514.4:c.*831G=	ENSP00000484137.1:n.*831G=
ENST00000617333.3:c.*1057G=	ENSP00000482468.1:n.*1057G=
ENST00000617938.4:c.*1263G=	ENSP00000481158.1:n.*1263G=
ENST00000621359.2:c.2291G=	ENSP00000481416.1:p.Trp764=
NM_000251.2:c.2291G= , LRG_218t1:c.2291G=	NP_000242.1:p.Trp764=
NM_001258281.1:c.2093G=	NP_001245210.1:p.Trp698=
XM_005264332.2:c.2291G=	XP_005264389.2:p.Trp764=
XM_011532867.1:c.2291G=	XP_011531169.1:p.Trp764=
XR_939685.1:n.2363G=
XM_005264332.4:c.2291G=	XP_005264389.2:p.Trp764=
XM_011532867.2:c.2291G=	XP_011531169.1:p.Trp764=
XR_001738747.2:n.2353G=
XR_939685.2:n.2353G=
NM_000251.3:c.2291G= MANE Select	NP_000242.1:p.Trp764=