Canonical Allele Identifier: CA916080262

Gene: MSH2

Linked Data

• ClinVar Variation Id: 844780
• ClinVar RCV Id: RCV001047717
• dbSNP Id: rs1667266283

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475525_47476450del , CM000664.2:g.47475525_47476450del	GRCh38
NC_000002.11:g.47702664_47703589del , CM000664.1:g.47702664_47703589del	GRCh37
NC_000002.10:g.47556168_47557093del	NCBI36
NG_007110.2:g.77402_78327del , LRG_218:g.77402_78327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2005+255_2089del
ENST00000233146.7:c.2005+255_2089del
ENST00000543555.6:c.1807+255_1891del
ENST00000644092.1:c.*305+255_*389del
ENST00000645339.1:c.2005+255_2089del
ENST00000645506.1:c.2005+255_2089del
ENST00000646415.1:c.2005+255_2089del
ENST00000233146.6:c.2005+255_2089del
ENST00000406134.5:c.2005+255_2089del
ENST00000543555.5:c.1807+255_1891del
ENST00000610696.4:c.*401+255_*485del
ENST00000613514.4:c.*545+255_*629del
ENST00000617333.3:c.*771+255_*855del
ENST00000617938.4:c.*977+255_*1061del
ENST00000621359.2:c.2005+255_2089del
NM_000251.2:c.2005+255_2089del , LRG_218t1:c.2005+255_2089del
NM_001258281.1:c.1807+255_1891del
XM_005264332.2:c.2005+255_2089del
XM_011532867.1:c.2005+255_2089del
XR_939685.1:n.2077+255_2161del
XM_005264332.4:c.2005+255_2089del
XM_011532867.2:c.2005+255_2089del
XR_001738747.2:n.2067+255_2151del
XR_939685.2:n.2067+255_2151del
NM_000251.3:c.2005+255_2089del