Canonical Allele Identifier: CA1139532100

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47414269_47414270insAAA , CM000664.2:g.47414269_47414270insAAA	GRCh38
NC_000002.11:g.47641408_47641409insAAA , CM000664.1:g.47641408_47641409insAAA	GRCh37
NC_000002.10:g.47494912_47494913insAAA	NCBI36
NG_007110.2:g.16146_16147insAAA , LRG_218:g.16146_16147insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.793_794insAAA	ENSP00000495641.2:p.Val265delinsGluIle
ENST00000233146.7:c.793_794insAAA MANE Select	ENSP00000233146.2:p.Val265delinsGluIle
ENST00000543555.6:c.595_596insAAA	ENSP00000442697.1:p.Val199delinsGluIle
ENST00000644092.1:c.793_794insAAA	ENSP00000496351.1:p.Val265delinsGluIle
ENST00000645339.1:c.793_794insAAA	ENSP00000496441.1:p.Val265delinsGluIle
ENST00000645506.1:c.793_794insAAA	ENSP00000495455.1:p.Val265delinsGluIle
ENST00000646415.1:c.793_794insAAA	ENSP00000495543.1:p.Val265delinsGluIle
ENST00000233146.6:c.793_794insAAA	ENSP00000233146.2:p.Val265delinsGluIle
ENST00000406134.5:c.793_794insAAA	ENSP00000384199.1:p.Val265delinsGluIle
ENST00000543555.5:c.595_596insAAA	ENSP00000442697.1:p.Val199delinsGluIle
ENST00000610696.4:c.793_794insAAA	ENSP00000483159.1:p.Val265delinsGluIle
ENST00000613514.4:c.793_794insAAA	ENSP00000484137.1:p.Val265delinsGluIle
ENST00000617333.3:c.793_794insAAA	ENSP00000482468.1:p.Val265delinsGluIle
ENST00000617938.4:c.793_794insAAA	ENSP00000481158.1:p.Val265delinsGluIle
ENST00000621359.2:c.793_794insAAA	ENSP00000481416.1:p.Val265delinsGluIle
NM_000251.2:c.793_794insAAA , LRG_218t1:c.793_794insAAA	NP_000242.1:p.Val265delinsGluIle
NM_001258281.1:c.595_596insAAA	NP_001245210.1:p.Val199delinsGluIle
XM_005264332.2:c.793_794insAAA	XP_005264389.2:p.Val265delinsGluIle
XM_011532867.1:c.793_794insAAA	XP_011531169.1:p.Val265delinsGluIle
XR_939685.1:n.865_866insAAA
XM_005264332.4:c.793_794insAAA	XP_005264389.2:p.Val265delinsGluIle
XM_011532867.2:c.793_794insAAA	XP_011531169.1:p.Val265delinsGluIle
XR_001738747.2:n.855_856insAAA
XR_939685.2:n.855_856insAAA
NM_000251.3:c.793_794insAAA MANE Select	NP_000242.1:p.Val265delinsGluIle