Canonical Allele Identifier: CA1139770418

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1792016
• ClinVar RCV Id: RCV002430884

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480725del , CM000664.2:g.47480725del	GRCh38
NC_000002.11:g.47707864del , CM000664.1:g.47707864del	GRCh37
NC_000002.10:g.47561368del	NCBI36
NG_007110.2:g.82602del , LRG_218:g.82602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2488del	ENSP00000495641.2:p.Val830LeufsTer11
ENST00000233146.7:c.2488del MANE Select	ENSP00000233146.2:p.Val830LeufsTer11
ENST00000543555.6:c.2290del	ENSP00000442697.1:p.Val764LeufsTer11
ENST00000644092.1:c.*788del	ENSP00000496351.1:n.*788del
ENST00000644900.1:c.341del
ENST00000645339.1:c.2488del	ENSP00000496441.1:p.Val830LeufsTer11
ENST00000645506.1:c.2488del	ENSP00000495455.1:p.Val830LeufsTer11
ENST00000646415.1:c.2488del	ENSP00000495543.1:p.Val830LeufsTer11
ENST00000233146.6:c.2488del	ENSP00000233146.2:p.Val830LeufsTer11
ENST00000406134.5:c.2488del	ENSP00000384199.1:p.Val830LeufsTer11
ENST00000543555.5:c.2290del	ENSP00000442697.1:p.Val764LeufsTer11
ENST00000610696.4:c.*884del	ENSP00000483159.1:n.*884del
ENST00000613514.4:c.*1028del	ENSP00000484137.1:n.*1028del
ENST00000617333.3:c.*1254del	ENSP00000482468.1:n.*1254del
ENST00000617938.4:c.*1460del	ENSP00000481158.1:n.*1460del
ENST00000621359.2:c.*54del	ENSP00000481416.1:n.*54del
NM_000251.2:c.2488del , LRG_218t1:c.2488del	NP_000242.1:p.Val830LeufsTer11
NM_001258281.1:c.2290del	NP_001245210.1:p.Val764LeufsTer11
XM_005264332.2:c.2488del	XP_005264389.2:p.Val830LeufsTer11
XM_011532867.1:c.2488del	XP_011531169.1:p.Val830LeufsTer11
XR_939685.1:n.2560del
XM_005264332.4:c.2488del	XP_005264389.2:p.Val830LeufsTer11
XM_011532867.2:c.2488del	XP_011531169.1:p.Val830LeufsTer11
XR_001738747.2:n.2550del
XR_939685.2:n.2550del
NM_000251.3:c.2488del MANE Select	NP_000242.1:p.Val830LeufsTer11