Canonical Allele Identifier: CA2586964910

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478413dup , CM000664.2:g.47478413dup	GRCh38
NC_000002.11:g.47705552dup , CM000664.1:g.47705552dup	GRCh37
NC_000002.10:g.47559056dup	NCBI36
NG_007110.2:g.80290dup , LRG_218:g.80290dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2352dup	ENSP00000495641.2:p.His785SerfsTer2
ENST00000233146.7:c.2352dup MANE Select	ENSP00000233146.2:p.His785SerfsTer2
ENST00000543555.6:c.2154dup	ENSP00000442697.1:p.His719SerfsTer2
ENST00000644092.1:c.*652dup	ENSP00000496351.1:n.*652dup
ENST00000644900.1:c.205dup
ENST00000645339.1:c.2352dup	ENSP00000496441.1:p.His785SerfsTer2
ENST00000645506.1:c.2352dup	ENSP00000495455.1:p.His785SerfsTer2
ENST00000646415.1:c.2352dup	ENSP00000495543.1:p.His785SerfsTer2
ENST00000233146.6:c.2352dup	ENSP00000233146.2:p.His785SerfsTer2
ENST00000406134.5:c.2352dup	ENSP00000384199.1:p.His785SerfsTer2
ENST00000543555.5:c.2154dup	ENSP00000442697.1:p.His719SerfsTer2
ENST00000610696.4:c.*748dup	ENSP00000483159.1:n.*748dup
ENST00000613514.4:c.*892dup	ENSP00000484137.1:n.*892dup
ENST00000617333.3:c.*1118dup	ENSP00000482468.1:n.*1118dup
ENST00000617938.4:c.*1324dup	ENSP00000481158.1:n.*1324dup
ENST00000621359.2:c.2351dup	ENSP00000481416.1:p.Met785HisfsTer?
NM_000251.2:c.2352dup , LRG_218t1:c.2352dup	NP_000242.1:p.His785SerfsTer2
NM_001258281.1:c.2154dup	NP_001245210.1:p.His719SerfsTer2
XM_005264332.2:c.2352dup	XP_005264389.2:p.His785SerfsTer2
XM_011532867.1:c.2352dup	XP_011531169.1:p.His785SerfsTer2
XR_939685.1:n.2424dup
XM_005264332.4:c.2352dup	XP_005264389.2:p.His785SerfsTer2
XM_011532867.2:c.2352dup	XP_011531169.1:p.His785SerfsTer2
XR_001738747.2:n.2414dup
XR_939685.2:n.2414dup
NM_000251.3:c.2352dup MANE Select	NP_000242.1:p.His785SerfsTer2