Canonical Allele Identifier: CA331682

Gene: MSH2

Linked Data

• ClinVar Variation Id: 91207
• ClinVar RCV Id: RCV000076711
• MyVariant Identifiers: chr2:g.47639707_47642985del (hg19) ; chr2:g.47412568_47415846del (hg38)
• PubMed: PMID:12910497 ; PMID:15942939

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412570_47415848del , CM000664.2:g.47412570_47415848del	GRCh38
NC_000002.11:g.47639709_47642987del , CM000664.1:g.47639709_47642987del	GRCh37
NC_000002.10:g.47493213_47496491del	NCBI36
NG_007110.2:g.14447_17725del , LRG_218:g.14447_17725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.792+10_943-448del
ENST00000233146.7:c.792+10_943-448del
ENST00000543555.6:c.594+10_745-448del
ENST00000644092.1:c.792+10_943-448del
ENST00000645339.1:c.792+10_943-448del
ENST00000645506.1:c.792+10_943-448del
ENST00000646415.1:c.792+10_943-448del
ENST00000233146.6:c.792+10_943-448del
ENST00000406134.5:c.792+10_943-448del
ENST00000543555.5:c.594+10_745-448del
ENST00000610696.4:c.792+10_943-448del
ENST00000613514.4:c.792+10_943-448del
ENST00000617333.3:c.792+10_943-448del
ENST00000617938.4:c.792+10_943-448del
ENST00000621359.2:c.792+10_943-448del
NM_000251.2:c.792+10_943-448del , LRG_218t1:c.792+10_943-448del
NM_001258281.1:c.594+10_745-448del
XM_005264332.2:c.792+10_943-448del
XM_011532867.1:c.792+10_943-448del
XR_939685.1:n.864+10_1015-448del
XM_005264332.4:c.792+10_943-448del
XM_011532867.2:c.792+10_943-448del
XR_001738747.2:n.854+10_1005-448del
XR_939685.2:n.854+10_1005-448del
NM_000251.3:c.792+10_943-448del