Canonical Allele Identifier: CA2495877299

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482806C= , CM000664.2:g.47482806C=	GRCh38
NC_000002.11:g.47709945C= , CM000664.1:g.47709945C=	GRCh37
NC_000002.10:g.47563449C=	NCBI36
NG_007110.2:g.84683C= , LRG_218:g.84683C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+1935C=	ENSP00000495641.2:n.2634+1935C=
ENST00000233146.7:c.2662C= MANE Select	ENSP00000233146.2:p.Leu888=
ENST00000543555.6:c.2464C=	ENSP00000442697.1:p.Leu822=
ENST00000644092.1:c.*934+1935C=	ENSP00000496351.1:n.*934+1935C=
ENST00000644900.1:c.487+1935C=
ENST00000645339.1:c.2634+1935C=	ENSP00000496441.1:n.2634+1935C=
ENST00000645506.1:c.2634+1935C=	ENSP00000495455.1:n.2634+1935C=
ENST00000646415.1:c.2634+1935C=	ENSP00000495543.1:n.2634+1935C=
ENST00000233146.6:c.2662C=	ENSP00000233146.2:p.Leu888=
ENST00000406134.5:c.2634+1935C=	ENSP00000384199.1:n.2634+1935C=
ENST00000461394.5:n.75+1935C=
ENST00000543555.5:c.2464C=	ENSP00000442697.1:p.Leu822=
ENST00000610696.4:c.*1058C=	ENSP00000483159.1:n.*1058C=
ENST00000613514.4:c.*1202C=	ENSP00000484137.1:n.*1202C=
ENST00000617333.3:c.*1428C=	ENSP00000482468.1:n.*1428C=
ENST00000617938.4:c.*1634C=	ENSP00000481158.1:n.*1634C=
ENST00000621359.2:c.*228C=	ENSP00000481416.1:n.*228C=
NM_000251.2:c.2662C= , LRG_218t1:c.2662C=	NP_000242.1:p.Leu888=
NM_001258281.1:c.2464C=	NP_001245210.1:p.Leu822=
XM_005264332.2:c.2634+1935C=	XP_005264389.2:n.2634+1935C=
XM_011532867.1:c.2634+1935C=	XP_011531169.1:n.2634+1935C=
XR_939685.1:n.2706+1935C=
XM_005264332.4:c.2634+1935C=	XP_005264389.2:n.2634+1935C=
XM_011532867.2:c.2634+1935C=	XP_011531169.1:n.2634+1935C=
XR_001738747.2:n.2696+1935C=
XR_939685.2:n.2696+1935C=
NM_000251.3:c.2662C= MANE Select	NP_000242.1:p.Leu888=