Canonical Allele Identifier: CA331371

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90769
• ClinVar RCV Id: RCV000076268
• MyVariant Identifiers: chr2:g.47698506_47703472del (hg19) ; chr2:g.47471367_47476333del (hg38)
• PubMed: PMID:18307539

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47471367_47476333del , CM000664.2:g.47471367_47476333del	GRCh38
NC_000002.11:g.47698506_47703472del , CM000664.1:g.47698506_47703472del	GRCh37
NC_000002.10:g.47552010_47556976del	NCBI36
NG_007110.2:g.73244_78210del , LRG_218:g.73244_78210del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1759+305_2006-34del
ENST00000233146.7:c.1759+305_2006-34del
ENST00000543555.6:c.1561+305_1808-34del
ENST00000644092.1:c.*59+305_*306-34del
ENST00000645339.1:c.1759+305_2006-34del
ENST00000645506.1:c.1759+305_2006-34del
ENST00000646415.1:c.1759+305_2006-34del
ENST00000233146.6:c.1759+305_2006-34del
ENST00000406134.5:c.1759+305_2006-34del
ENST00000543555.5:c.1561+305_1808-34del
ENST00000610696.4:c.*155+305_*402-34del
ENST00000613514.4:c.*299+305_*546-34del
ENST00000617333.3:c.*525+305_*772-34del
ENST00000617938.4:c.*731+305_*978-34del
ENST00000621359.2:c.1759+305_2006-34del
NM_000251.2:c.1759+305_2006-34del , LRG_218t1:c.1759+305_2006-34del
NM_001258281.1:c.1561+305_1808-34del
XM_005264332.2:c.1759+305_2006-34del
XM_011532867.1:c.1759+305_2006-34del
XR_939685.1:n.1831+305_2078-34del
XM_005264332.4:c.1759+305_2006-34del
XM_011532867.2:c.1759+305_2006-34del
XR_001738747.2:n.1821+305_2068-34del
XR_939685.2:n.1821+305_2068-34del
NM_000251.3:c.1759+305_2006-34del