Canonical Allele Identifier: CA16610907

Gene: MSH2

Linked Data

• ClinVar Variation Id: 408510
• ClinVar RCV Id: RCV000466405
• dbSNP Id: rs1064792951
• MyVariant Identifiers: chr2:g.47709923_47709939del (hg19) ; chr2:g.47482784_47482800del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482784_47482800del , CM000664.2:g.47482784_47482800del	GRCh38
NC_000002.11:g.47709923_47709939del , CM000664.1:g.47709923_47709939del	GRCh37
NC_000002.10:g.47563427_47563443del	NCBI36
NG_007110.2:g.84661_84677del , LRG_218:g.84661_84677del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2634+1913_2634+1929del	ENSP00000495641.2:n.2634+1913_2634+1929de...
ENST00000233146.7:c.2640_2656del MANE Select	ENSP00000233146.2:p.Glu881ValfsTer12
ENST00000543555.6:c.2442_2458del	ENSP00000442697.1:p.Glu815ValfsTer12
ENST00000644092.1:c.*934+1913_*934+1929del	ENSP00000496351.1:n.*934+1913_*934+1929de...
ENST00000644900.1:c.487+1913_487+1929del
ENST00000645339.1:c.2634+1913_2634+1929del	ENSP00000496441.1:n.2634+1913_2634+1929de...
ENST00000645506.1:c.2634+1913_2634+1929del	ENSP00000495455.1:n.2634+1913_2634+1929de...
ENST00000646415.1:c.2634+1913_2634+1929del	ENSP00000495543.1:n.2634+1913_2634+1929de...
ENST00000233146.6:c.2640_2656del	ENSP00000233146.2:p.Glu881ValfsTer12
ENST00000406134.5:c.2634+1913_2634+1929del	ENSP00000384199.1:n.2634+1913_2634+1929de...
ENST00000461394.5:n.75+1913_75+1929del
ENST00000543555.5:c.2442_2458del	ENSP00000442697.1:p.Glu815ValfsTer12
ENST00000610696.4:c.*1036_*1052del	ENSP00000483159.1:n.*1036_*1052del
ENST00000613514.4:c.*1180_*1196del	ENSP00000484137.1:n.*1180_*1196del
ENST00000617333.3:c.*1406_*1422del	ENSP00000482468.1:n.*1406_*1422del
ENST00000617938.4:c.*1612_*1628del	ENSP00000481158.1:n.*1612_*1628del
ENST00000621359.2:c.*206_*222del	ENSP00000481416.1:n.*206_*222del
NM_000251.2:c.2640_2656del , LRG_218t1:c.2640_2656del	NP_000242.1:p.Glu881ValfsTer12
NM_001258281.1:c.2442_2458del	NP_001245210.1:p.Glu815ValfsTer12
XM_005264332.2:c.2634+1913_2634+1929del	XP_005264389.2:n.2634+1913_2634+1929del
XM_011532867.1:c.2634+1913_2634+1929del	XP_011531169.1:n.2634+1913_2634+1929del
XR_939685.1:n.2706+1913_2706+1929del
XM_005264332.4:c.2634+1913_2634+1929del	XP_005264389.2:n.2634+1913_2634+1929del
XM_011532867.2:c.2634+1913_2634+1929del	XP_011531169.1:n.2634+1913_2634+1929del
XR_001738747.2:n.2696+1913_2696+1929del
XR_939685.2:n.2696+1913_2696+1929del
NM_000251.3:c.2640_2656del MANE Select	NP_000242.1:p.Glu881ValfsTer12