Canonical Allele Identifier: CA2695200770

Gene: MSH2

Linked Data

• ClinVar Variation Id: 2673899
• ClinVar RCV Id: RCV003450516

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482781del , CM000664.2:g.47482781del	GRCh38
NC_000002.11:g.47709920del , CM000664.1:g.47709920del	GRCh37
NC_000002.10:g.47563424del	NCBI36
NG_007110.2:g.84658del , LRG_218:g.84658del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2634+1910del	ENSP00000495641.2:n.2634+1910del
ENST00000233146.7:c.2637del MANE Select	ENSP00000233146.2:p.Gly880ValfsTer12
ENST00000543555.6:c.2439del	ENSP00000442697.1:p.Gly814ValfsTer12
ENST00000644092.1:c.*934+1910del	ENSP00000496351.1:n.*934+1910del
ENST00000644900.1:c.487+1910del
ENST00000645339.1:c.2634+1910del	ENSP00000496441.1:n.2634+1910del
ENST00000645506.1:c.2634+1910del	ENSP00000495455.1:n.2634+1910del
ENST00000646415.1:c.2634+1910del	ENSP00000495543.1:n.2634+1910del
ENST00000233146.6:c.2637del	ENSP00000233146.2:p.Gly880ValfsTer12
ENST00000406134.5:c.2634+1910del	ENSP00000384199.1:n.2634+1910del
ENST00000461394.5:n.75+1910del
ENST00000543555.5:c.2439del	ENSP00000442697.1:p.Gly814ValfsTer12
ENST00000610696.4:c.*1033del	ENSP00000483159.1:n.*1033del
ENST00000613514.4:c.*1177del	ENSP00000484137.1:n.*1177del
ENST00000617333.3:c.*1403del	ENSP00000482468.1:n.*1403del
ENST00000617938.4:c.*1609del	ENSP00000481158.1:n.*1609del
ENST00000621359.2:c.*203del	ENSP00000481416.1:n.*203del
NM_000251.2:c.2637del , LRG_218t1:c.2637del	NP_000242.1:p.Gly880ValfsTer12
NM_001258281.1:c.2439del	NP_001245210.1:p.Gly814ValfsTer12
XM_005264332.2:c.2634+1910del	XP_005264389.2:n.2634+1910del
XM_011532867.1:c.2634+1910del	XP_011531169.1:n.2634+1910del
XR_939685.1:n.2706+1910del
XM_005264332.4:c.2634+1910del	XP_005264389.2:n.2634+1910del
XM_011532867.2:c.2634+1910del	XP_011531169.1:n.2634+1910del
XR_001738747.2:n.2696+1910del
XR_939685.2:n.2696+1910del
NM_000251.3:c.2637del MANE Select	NP_000242.1:p.Gly880ValfsTer12