Canonical Allele Identifier: CA2499216071

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1072896
• ClinVar RCV Id: RCV001385740 ; RCV003450066 ; RCV004037675
• dbSNP Id: rs2104406996

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478447_47478457del , CM000664.2:g.47478447_47478457del	GRCh38
NC_000002.11:g.47705586_47705596del , CM000664.1:g.47705586_47705596del	GRCh37
NC_000002.10:g.47559090_47559100del	NCBI36
NG_007110.2:g.80324_80334del , LRG_218:g.80324_80334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2386_2396del	ENSP00000495641.2:p.Thr796SerfsTer9
ENST00000233146.7:c.2386_2396del MANE Select	ENSP00000233146.2:p.Thr796SerfsTer9
ENST00000543555.6:c.2188_2198del	ENSP00000442697.1:p.Thr730SerfsTer9
ENST00000644092.1:c.*686_*696del	ENSP00000496351.1:n.*686_*696del
ENST00000644900.1:c.239_249del
ENST00000645339.1:c.2386_2396del	ENSP00000496441.1:p.Thr796SerfsTer9
ENST00000645506.1:c.2386_2396del	ENSP00000495455.1:p.Thr796SerfsTer9
ENST00000646415.1:c.2386_2396del	ENSP00000495543.1:p.Thr796SerfsTer9
ENST00000233146.6:c.2386_2396del	ENSP00000233146.2:p.Thr796SerfsTer9
ENST00000406134.5:c.2386_2396del	ENSP00000384199.1:p.Thr796SerfsTer9
ENST00000543555.5:c.2188_2198del	ENSP00000442697.1:p.Thr730SerfsTer9
ENST00000610696.4:c.*782_*792del	ENSP00000483159.1:n.*782_*792del
ENST00000613514.4:c.*926_*936del	ENSP00000484137.1:n.*926_*936del
ENST00000617333.3:c.*1152_*1162del	ENSP00000482468.1:n.*1152_*1162del
ENST00000617938.4:c.*1358_*1368del	ENSP00000481158.1:n.*1358_*1368del
ENST00000621359.2:c.2385_2395del	ENSP00000481416.1:p.Gln795HisfsTer?
NM_000251.2:c.2386_2396del , LRG_218t1:c.2386_2396del	NP_000242.1:p.Thr796SerfsTer9
NM_001258281.1:c.2188_2198del	NP_001245210.1:p.Thr730SerfsTer9
XM_005264332.2:c.2386_2396del	XP_005264389.2:p.Thr796SerfsTer9
XM_011532867.1:c.2386_2396del	XP_011531169.1:p.Thr796SerfsTer9
XR_939685.1:n.2458_2468del
XM_005264332.4:c.2386_2396del	XP_005264389.2:p.Thr796SerfsTer9
XM_011532867.2:c.2386_2396del	XP_011531169.1:p.Thr796SerfsTer9
XR_001738747.2:n.2448_2458del
XR_939685.2:n.2448_2458del
NM_000251.3:c.2386_2396del MANE Select	NP_000242.1:p.Thr796SerfsTer9