Canonical Allele Identifier: CA2573134883

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1473407
• ClinVar RCV Id: RCV001977543
• dbSNP Id: rs1667581727

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482880del , CM000664.2:g.47482880del	GRCh38
NC_000002.11:g.47710019del , CM000664.1:g.47710019del	GRCh37
NC_000002.10:g.47563523del	NCBI36
NG_007110.2:g.84757del , LRG_218:g.84757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2009del	ENSP00000495641.2:n.2634+2009del
ENST00000233146.7:c.2736del MANE Select	ENSP00000233146.2:p.Ala913LeufsTer3
ENST00000543555.6:c.2538del	ENSP00000442697.1:p.Ala847LeufsTer3
ENST00000644092.1:c.*934+2009del	ENSP00000496351.1:n.*934+2009del
ENST00000644900.1:c.487+2009del
ENST00000645339.1:c.2634+2009del	ENSP00000496441.1:n.2634+2009del
ENST00000645506.1:c.2634+2009del	ENSP00000495455.1:n.2634+2009del
ENST00000646415.1:c.2634+2009del	ENSP00000495543.1:n.2634+2009del
ENST00000233146.6:c.2736del	ENSP00000233146.2:p.Ala913LeufsTer3
ENST00000406134.5:c.2634+2009del	ENSP00000384199.1:n.2634+2009del
ENST00000461394.5:n.75+2009del
ENST00000543555.5:c.2538del	ENSP00000442697.1:p.Ala847LeufsTer3
ENST00000610696.4:c.*1132del	ENSP00000483159.1:n.*1132del
ENST00000613514.4:c.*1276del	ENSP00000484137.1:n.*1276del
ENST00000617333.3:c.*1502del	ENSP00000482468.1:n.*1502del
ENST00000617938.4:c.*1708del	ENSP00000481158.1:n.*1708del
ENST00000621359.2:c.*302del	ENSP00000481416.1:n.*302del
NM_000251.2:c.2736del , LRG_218t1:c.2736del	NP_000242.1:p.Ala913LeufsTer3
NM_001258281.1:c.2538del	NP_001245210.1:p.Ala847LeufsTer3
XM_005264332.2:c.2634+2009del	XP_005264389.2:n.2634+2009del
XM_011532867.1:c.2634+2009del	XP_011531169.1:n.2634+2009del
XR_939685.1:n.2706+2009del
XM_005264332.4:c.2634+2009del	XP_005264389.2:n.2634+2009del
XM_011532867.2:c.2634+2009del	XP_011531169.1:n.2634+2009del
XR_001738747.2:n.2696+2009del
XR_939685.2:n.2696+2009del
NM_000251.3:c.2736del MANE Select	NP_000242.1:p.Ala913LeufsTer3