Canonical Allele Identifier: CA2499216010

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1048814
• ClinVar RCV Id: RCV001357715 ; RCV001354085 ; RCV001358629 ; RCV003449989
• dbSNP Id: rs2104023773

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47410186del , CM000664.2:g.47410186del	GRCh38
NC_000002.11:g.47637325del , CM000664.1:g.47637325del	GRCh37
NC_000002.10:g.47490829del	NCBI36
NG_007110.2:g.12063del , LRG_218:g.12063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.459del	ENSP00000495641.2:p.Ala154GlnfsTer20
ENST00000233146.7:c.459del MANE Select	ENSP00000233146.2:p.Ala154GlnfsTer20
ENST00000543555.6:c.261del	ENSP00000442697.1:p.Ala88GlnfsTer20
ENST00000644092.1:c.459del	ENSP00000496351.1:p.Ala154GlnfsTer20
ENST00000645339.1:c.459del	ENSP00000496441.1:p.Ala154GlnfsTer20
ENST00000645506.1:c.459del	ENSP00000495455.1:p.Ala154GlnfsTer20
ENST00000646415.1:c.459del	ENSP00000495543.1:p.Ala154GlnfsTer20
ENST00000233146.6:c.459del	ENSP00000233146.2:p.Ala154GlnfsTer20
ENST00000406134.5:c.459del	ENSP00000384199.1:p.Ala154GlnfsTer20
ENST00000454849.5:c.261del	ENSP00000411482.1:p.Ala88GlnfsTer20
ENST00000543555.5:c.261del	ENSP00000442697.1:p.Ala88GlnfsTer20
ENST00000610696.4:c.459del	ENSP00000483159.1:p.Ala154GlnfsTer20
ENST00000613514.4:c.459del	ENSP00000484137.1:p.Ala154GlnfsTer20
ENST00000617333.3:c.459del	ENSP00000482468.1:p.Ala154GlnfsTer20
ENST00000617938.4:c.459del	ENSP00000481158.1:p.Ala154GlnfsTer20
ENST00000621359.2:c.459del	ENSP00000481416.1:p.Ala154GlnfsTer20
NM_000251.2:c.459del , LRG_218t1:c.459del	NP_000242.1:p.Ala154GlnfsTer20
NM_001258281.1:c.261del	NP_001245210.1:p.Ala88GlnfsTer20
XM_005264332.2:c.459del	XP_005264389.2:p.Ala154GlnfsTer20
XM_011532867.1:c.459del	XP_011531169.1:p.Ala154GlnfsTer20
XR_939685.1:n.531del
XM_005264332.4:c.459del	XP_005264389.2:p.Ala154GlnfsTer20
XM_011532867.2:c.459del	XP_011531169.1:p.Ala154GlnfsTer20
XR_001738747.2:n.521del
XR_939685.2:n.521del
NM_000251.3:c.459del MANE Select	NP_000242.1:p.Ala154GlnfsTer20