Canonical Allele Identifier: CA2495874660

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478501C= , CM000664.2:g.47478501C=	GRCh38
NC_000002.11:g.47705640C= , CM000664.1:g.47705640C=	GRCh37
NC_000002.10:g.47559144C=	NCBI36
NG_007110.2:g.80378C= , LRG_218:g.80378C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2440C=	ENSP00000495641.2:p.Leu814=
ENST00000233146.7:c.2440C= MANE Select	ENSP00000233146.2:p.Leu814=
ENST00000543555.6:c.2242C=	ENSP00000442697.1:p.Leu748=
ENST00000644092.1:c.*740C=	ENSP00000496351.1:n.*740C=
ENST00000644900.1:c.293C=
ENST00000645339.1:c.2440C=	ENSP00000496441.1:p.Leu814=
ENST00000645506.1:c.2440C=	ENSP00000495455.1:p.Leu814=
ENST00000646415.1:c.2440C=	ENSP00000495543.1:p.Leu814=
ENST00000233146.6:c.2440C=	ENSP00000233146.2:p.Leu814=
ENST00000406134.5:c.2440C=	ENSP00000384199.1:p.Leu814=
ENST00000543555.5:c.2242C=	ENSP00000442697.1:p.Leu748=
ENST00000610696.4:c.*836C=	ENSP00000483159.1:n.*836C=
ENST00000613514.4:c.*980C=	ENSP00000484137.1:n.*980C=
ENST00000617333.3:c.*1206C=	ENSP00000482468.1:n.*1206C=
ENST00000617938.4:c.*1412C=	ENSP00000481158.1:n.*1412C=
ENST00000621359.2:c.*6C=	ENSP00000481416.1:n.*6C=
NM_000251.2:c.2440C= , LRG_218t1:c.2440C=	NP_000242.1:p.Leu814=
NM_001258281.1:c.2242C=	NP_001245210.1:p.Leu748=
XM_005264332.2:c.2440C=	XP_005264389.2:p.Leu814=
XM_011532867.1:c.2440C=	XP_011531169.1:p.Leu814=
XR_939685.1:n.2512C=
XM_005264332.4:c.2440C=	XP_005264389.2:p.Leu814=
XM_011532867.2:c.2440C=	XP_011531169.1:p.Leu814=
XR_001738747.2:n.2502C=
XR_939685.2:n.2502C=
NM_000251.3:c.2440C= MANE Select	NP_000242.1:p.Leu814=