Canonical Allele Identifier: CA2495873564

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476420_47476421delinsCT , CM000664.2:g.47476420_47476421delinsCT	GRCh38
NC_000002.11:g.47703559_47703560delinsCT , CM000664.1:g.47703559_47703560delinsCT	GRCh37
NC_000002.10:g.47557063_47557064delinsCT	NCBI36
NG_007110.2:g.78297_78298delinsCT , LRG_218:g.78297_78298delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2059_2060delinsCT	ENSP00000495641.2:p.Leu687=
ENST00000233146.7:c.2059_2060delinsCT MANE Select	ENSP00000233146.2:p.Leu687=
ENST00000543555.6:c.1861_1862delinsCT	ENSP00000442697.1:p.Leu621=
ENST00000644092.1:c.*359_*360delinsCT	ENSP00000496351.1:n.*359_*360delinsCT
ENST00000645339.1:c.2059_2060delinsCT	ENSP00000496441.1:p.Leu687=
ENST00000645506.1:c.2059_2060delinsCT	ENSP00000495455.1:p.Leu687=
ENST00000646415.1:c.2059_2060delinsCT	ENSP00000495543.1:p.Leu687=
ENST00000233146.6:c.2059_2060delinsCT	ENSP00000233146.2:p.Leu687=
ENST00000406134.5:c.2059_2060delinsCT	ENSP00000384199.1:p.Leu687=
ENST00000543555.5:c.1861_1862delinsCT	ENSP00000442697.1:p.Leu621=
ENST00000610696.4:c.*455_*456delinsCT	ENSP00000483159.1:n.*455_*456delinsCT
ENST00000613514.4:c.*599_*600delinsCT	ENSP00000484137.1:n.*599_*600delinsCT
ENST00000617333.3:c.*825_*826delinsCT	ENSP00000482468.1:n.*825_*826delinsCT
ENST00000617938.4:c.*1031_*1032delinsCT	ENSP00000481158.1:n.*1031_*1032delinsCT
ENST00000621359.2:c.2059_2060delinsCT	ENSP00000481416.1:p.Leu687=
NM_000251.2:c.2059_2060delinsCT , LRG_218t1:c.2059_2060delinsCT	NP_000242.1:p.Leu687=
NM_001258281.1:c.1861_1862delinsCT	NP_001245210.1:p.Leu621=
XM_005264332.2:c.2059_2060delinsCT	XP_005264389.2:p.Leu687=
XM_011532867.1:c.2059_2060delinsCT	XP_011531169.1:p.Leu687=
XR_939685.1:n.2131_2132delinsCT
XM_005264332.4:c.2059_2060delinsCT	XP_005264389.2:p.Leu687=
XM_011532867.2:c.2059_2060delinsCT	XP_011531169.1:p.Leu687=
XR_001738747.2:n.2121_2122delinsCT
XR_939685.2:n.2121_2122delinsCT
NM_000251.3:c.2059_2060delinsCT MANE Select	NP_000242.1:p.Leu687=