Canonical Allele Identifier: CA2580067371

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1794480
• ClinVar RCV Id: RCV002437274

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482808del , CM000664.2:g.47482808del	GRCh38
NC_000002.11:g.47709947del , CM000664.1:g.47709947del	GRCh37
NC_000002.10:g.47563451del	NCBI36
NG_007110.2:g.84685del , LRG_218:g.84685del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2634+1937del	ENSP00000495641.2:n.2634+1937del
ENST00000233146.7:c.2664del MANE Select	ENSP00000233146.2:p.Ser889ProfsTer3
ENST00000543555.6:c.2466del	ENSP00000442697.1:p.Ser823ProfsTer3
ENST00000644092.1:c.*934+1937del	ENSP00000496351.1:n.*934+1937del
ENST00000644900.1:c.487+1937del
ENST00000645339.1:c.2634+1937del	ENSP00000496441.1:n.2634+1937del
ENST00000645506.1:c.2634+1937del	ENSP00000495455.1:n.2634+1937del
ENST00000646415.1:c.2634+1937del	ENSP00000495543.1:n.2634+1937del
ENST00000233146.6:c.2664del	ENSP00000233146.2:p.Ser889ProfsTer3
ENST00000406134.5:c.2634+1937del	ENSP00000384199.1:n.2634+1937del
ENST00000461394.5:n.75+1937del
ENST00000543555.5:c.2466del	ENSP00000442697.1:p.Ser823ProfsTer3
ENST00000610696.4:c.*1060del	ENSP00000483159.1:n.*1060del
ENST00000613514.4:c.*1204del	ENSP00000484137.1:n.*1204del
ENST00000617333.3:c.*1430del	ENSP00000482468.1:n.*1430del
ENST00000617938.4:c.*1636del	ENSP00000481158.1:n.*1636del
ENST00000621359.2:c.*230del	ENSP00000481416.1:n.*230del
NM_000251.2:c.2664del , LRG_218t1:c.2664del	NP_000242.1:p.Ser889ProfsTer3
NM_001258281.1:c.2466del	NP_001245210.1:p.Ser823ProfsTer3
XM_005264332.2:c.2634+1937del	XP_005264389.2:n.2634+1937del
XM_011532867.1:c.2634+1937del	XP_011531169.1:n.2634+1937del
XR_939685.1:n.2706+1937del
XM_005264332.4:c.2634+1937del	XP_005264389.2:n.2634+1937del
XM_011532867.2:c.2634+1937del	XP_011531169.1:n.2634+1937del
XR_001738747.2:n.2696+1937del
XR_939685.2:n.2696+1937del
NM_000251.3:c.2664del MANE Select	NP_000242.1:p.Ser889ProfsTer3