Canonical Allele Identifier: CA331581

Gene: MSH2

Linked Data

• ClinVar Variation Id: 91076
• ClinVar RCV Id: RCV000076578
• MyVariant Identifiers: chr2:g.47636862_47639040del (hg19) ; chr2:g.47409723_47411901del (hg38)
• PubMed: PMID:9843200 ; PMID:12414824 ; PMID:12547705 ; PMID:15942939

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47409723_47411901del , CM000664.2:g.47409723_47411901del	GRCh38
NC_000002.11:g.47636862_47639040del , CM000664.1:g.47636862_47639040del	GRCh37
NC_000002.10:g.47490366_47492544del	NCBI36
NG_007110.2:g.11600_13778del , LRG_218:g.11600_13778del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.367-371_646-513del
ENST00000233146.7:c.367-371_646-513del
ENST00000543555.6:c.169-371_448-513del
ENST00000644092.1:c.367-371_646-513del
ENST00000645339.1:c.367-371_646-513del
ENST00000645506.1:c.367-371_646-513del
ENST00000646415.1:c.367-371_646-513del
ENST00000233146.6:c.367-371_646-513del
ENST00000406134.5:c.367-371_646-513del
ENST00000543555.5:c.169-371_448-513del
ENST00000610696.4:c.367-371_646-513del
ENST00000613514.4:c.367-371_646-513del
ENST00000617333.3:c.367-371_646-513del
ENST00000617938.4:c.367-371_646-513del
ENST00000621359.2:c.367-371_646-513del
NM_000251.2:c.367-371_646-513del , LRG_218t1:c.367-371_646-513del
NM_001258281.1:c.169-371_448-513del
XM_005264332.2:c.367-371_646-513del
XM_011532867.1:c.367-371_646-513del
XR_939685.1:n.439-371_718-513del
XM_005264332.4:c.367-371_646-513del
XM_011532867.2:c.367-371_646-513del
XR_001738747.2:n.429-371_708-513del
XR_939685.2:n.429-371_708-513del
NM_000251.3:c.367-371_646-513del