Canonical Allele Identifier: CA916080252

Gene: MSH2

Linked Data

• ClinVar Variation Id: 847505
• ClinVar RCV Id: RCV001051068 ; RCV003455218
• dbSNP Id: rs1667076589

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47471007del , CM000664.2:g.47471007del	GRCh38
NC_000002.11:g.47698146del , CM000664.1:g.47698146del	GRCh37
NC_000002.10:g.47551650del	NCBI36
NG_007110.2:g.72884del , LRG_218:g.72884del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1704del	ENSP00000495641.2:p.Glu569AsnfsTer21
ENST00000233146.7:c.1704del MANE Select	ENSP00000233146.2:p.Glu569AsnfsTer21
ENST00000543555.6:c.1506del	ENSP00000442697.1:p.Glu503AsnfsTer21
ENST00000644092.1:c.*4del	ENSP00000496351.1:n.*4del
ENST00000645339.1:c.1704del	ENSP00000496441.1:p.Glu569AsnfsTer21
ENST00000645506.1:c.1704del	ENSP00000495455.1:p.Glu569AsnfsTer21
ENST00000646415.1:c.1704del	ENSP00000495543.1:p.Glu569AsnfsTer21
ENST00000233146.6:c.1704del	ENSP00000233146.2:p.Glu569AsnfsTer21
ENST00000406134.5:c.1704del	ENSP00000384199.1:p.Glu569AsnfsTer21
ENST00000543555.5:c.1506del	ENSP00000442697.1:p.Glu503AsnfsTer21
ENST00000610696.4:c.*100del	ENSP00000483159.1:n.*100del
ENST00000613514.4:c.*244del	ENSP00000484137.1:n.*244del
ENST00000617333.3:c.*470del	ENSP00000482468.1:n.*470del
ENST00000617938.4:c.*676del	ENSP00000481158.1:n.*676del
ENST00000621359.2:c.1704del	ENSP00000481416.1:p.Glu569AsnfsTer21
NM_000251.2:c.1704del , LRG_218t1:c.1704del	NP_000242.1:p.Glu569AsnfsTer21
NM_001258281.1:c.1506del	NP_001245210.1:p.Glu503AsnfsTer21
XM_005264332.2:c.1704del	XP_005264389.2:p.Glu569AsnfsTer21
XM_011532867.1:c.1704del	XP_011531169.1:p.Glu569AsnfsTer21
XR_939685.1:n.1776del
XM_005264332.4:c.1704del	XP_005264389.2:p.Glu569AsnfsTer21
XM_011532867.2:c.1704del	XP_011531169.1:p.Glu569AsnfsTer21
XR_001738747.2:n.1766del
XR_939685.2:n.1766del
NM_000251.3:c.1704del MANE Select	NP_000242.1:p.Glu569AsnfsTer21