Canonical Allele Identifier: CA658795727
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 525792
ClinVar RCV Id: RCV000630094
dbSNP Id: rs1553350466

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47409569_47410220del , CM000664.2:g.47409569_47410220del GRCh38
NC_000002.11:g.47636708_47637359del , CM000664.1:g.47636708_47637359del GRCh37
NC_000002.10:g.47490212_47490863del NCBI36
NG_007110.2:g.11446_12097del , LRG_218:g.11446_12097del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.367-525_493del
ENST00000233146.7:c.367-525_493del
ENST00000543555.6:c.169-525_295del
ENST00000644092.1:c.367-525_493del
ENST00000645339.1:c.367-525_493del
ENST00000645506.1:c.367-525_493del
ENST00000646415.1:c.367-525_493del
ENST00000233146.6:c.367-525_493del
ENST00000406134.5:c.367-525_493del
ENST00000454849.5:c.169-525_295del
ENST00000543555.5:c.169-525_295del
ENST00000610696.4:c.367-525_493del
ENST00000613514.4:c.367-525_493del
ENST00000617333.3:c.367-525_493del
ENST00000617938.4:c.367-525_493del
ENST00000621359.2:c.367-525_493del
NM_000251.2:c.367-525_493del , LRG_218t1:c.367-525_493del
NM_001258281.1:c.169-525_295del
XM_005264332.2:c.367-525_493del
XM_011532867.1:c.367-525_493del
XR_939685.1:n.439-525_565del
XM_005264332.4:c.367-525_493del
XM_011532867.2:c.367-525_493del
XR_001738747.2:n.429-525_555del
XR_939685.2:n.429-525_555del
NM_000251.3:c.367-525_493del