Canonical Allele Identifier: CA331343

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90729
• ClinVar RCV Id: RCV000076226
• MyVariant Identifiers: chr2:g.47697730_47706125del (hg19) ; chr2:g.47470591_47478986del (hg38)
• PubMed: PMID:12494471 ; PMID:15849733 ; PMID:16216036

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47470591_47478986del , CM000664.2:g.47470591_47478986del	GRCh38
NC_000002.11:g.47697730_47706125del , CM000664.1:g.47697730_47706125del	GRCh37
NC_000002.10:g.47551234_47559629del	NCBI36
NG_007110.2:g.72468_80863del , LRG_218:g.72468_80863del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1662-374_2458+467del
ENST00000233146.7:c.1662-374_2458+467del
ENST00000543555.6:c.1464-374_2260+467del
ENST00000644092.1:c.1662-397_*758+467del
ENST00000645339.1:c.1662-374_2458+467del
ENST00000645506.1:c.1662-374_2458+467del
ENST00000646415.1:c.1662-374_2458+467del
ENST00000233146.6:c.1662-374_2458+467del
ENST00000406134.5:c.1662-374_2458+467del
ENST00000543555.5:c.1464-374_2260+467del
ENST00000610696.4:c.*58-374_*854+467del
ENST00000613514.4:c.*202-374_*998+467del
ENST00000617333.3:c.*428-374_*1224+467del
ENST00000617938.4:c.*634-374_*1430+467del
ENST00000621359.2:c.1662-374_*24+467del
NM_000251.2:c.1662-374_2458+467del , LRG_218t1:c.1662-374_2458+467del
NM_001258281.1:c.1464-374_2260+467del
XM_005264332.2:c.1662-374_2458+467del
XM_011532867.1:c.1662-374_2458+467del
XR_939685.1:n.1734-374_2530+467del
XM_005264332.4:c.1662-374_2458+467del
XM_011532867.2:c.1662-374_2458+467del
XR_001738747.2:n.1724-374_2520+467del
XR_939685.2:n.1724-374_2520+467del
NM_000251.3:c.1662-374_2458+467del