Canonical Allele Identifier: CA2586969226

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47470979dup , CM000664.2:g.47470979dup	GRCh38
NC_000002.11:g.47698118dup , CM000664.1:g.47698118dup	GRCh37
NC_000002.10:g.47551622dup	NCBI36
NG_007110.2:g.72856dup , LRG_218:g.72856dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1676dup	ENSP00000495641.2:p.Leu559PhefsTer3
ENST00000233146.7:c.1676dup MANE Select	ENSP00000233146.2:p.Leu559PhefsTer3
ENST00000543555.6:c.1478dup	ENSP00000442697.1:p.Leu493PhefsTer3
ENST00000644092.1:c.1662-9dup	ENSP00000496351.1:n.1662-9dup
ENST00000645339.1:c.1676dup	ENSP00000496441.1:p.Leu559PhefsTer3
ENST00000645506.1:c.1676dup	ENSP00000495455.1:p.Leu559PhefsTer3
ENST00000646415.1:c.1676dup	ENSP00000495543.1:p.Leu559PhefsTer3
ENST00000233146.6:c.1676dup	ENSP00000233146.2:p.Leu559PhefsTer3
ENST00000406134.5:c.1676dup	ENSP00000384199.1:p.Leu559PhefsTer3
ENST00000543555.5:c.1478dup	ENSP00000442697.1:p.Leu493PhefsTer3
ENST00000610696.4:c.*72dup	ENSP00000483159.1:n.*72dup
ENST00000613514.4:c.*216dup	ENSP00000484137.1:n.*216dup
ENST00000617333.3:c.*442dup	ENSP00000482468.1:n.*442dup
ENST00000617938.4:c.*648dup	ENSP00000481158.1:n.*648dup
ENST00000621359.2:c.1676dup	ENSP00000481416.1:p.Leu559PhefsTer3
NM_000251.2:c.1676dup , LRG_218t1:c.1676dup	NP_000242.1:p.Leu559PhefsTer3
NM_001258281.1:c.1478dup	NP_001245210.1:p.Leu493PhefsTer3
XM_005264332.2:c.1676dup	XP_005264389.2:p.Leu559PhefsTer3
XM_011532867.1:c.1676dup	XP_011531169.1:p.Leu559PhefsTer3
XR_939685.1:n.1748dup
XM_005264332.4:c.1676dup	XP_005264389.2:p.Leu559PhefsTer3
XM_011532867.2:c.1676dup	XP_011531169.1:p.Leu559PhefsTer3
XR_001738747.2:n.1738dup
XR_939685.2:n.1738dup
NM_000251.3:c.1676dup MANE Select	NP_000242.1:p.Leu559PhefsTer3