Canonical Allele Identifier: CA020459
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 156504
ClinVar RCV Id: RCV000144618
dbSNP Id: rs587783053
MyVariant Identifiers: chr2:g.47705504del (hg19) chr2:g.47478365del (hg38)
PubMed: PMID:16451135 PMID:24362816
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47478365del , CM000664.2:g.47478365del GRCh38
NC_000002.11:g.47705504del , CM000664.1:g.47705504del GRCh37
NC_000002.10:g.47559008del NCBI36
NG_007110.2:g.80242del , LRG_218:g.80242del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.2304del ENSP00000495641.2:p.Glu768AspfsTer?
ENST00000233146.7:c.2304del MANE Select ENSP00000233146.2:p.Glu768AspfsTer?
ENST00000543555.6:c.2106del ENSP00000442697.1:p.Glu702AspfsTer?
ENST00000644092.1:c.*604del ENSP00000496351.1:n.*604del
ENST00000644900.1:c.157del
ENST00000645339.1:c.2304del ENSP00000496441.1:p.Glu768AspfsTer?
ENST00000645506.1:c.2304del ENSP00000495455.1:p.Glu768AspfsTer?
ENST00000646415.1:c.2304del ENSP00000495543.1:p.Glu768AspfsTer?
ENST00000233146.6:c.2304del ENSP00000233146.2:p.Glu768AspfsTer?
ENST00000406134.5:c.2304del ENSP00000384199.1:p.Glu768AspfsTer?
ENST00000543555.5:c.2106del ENSP00000442697.1:p.Glu702AspfsTer?
ENST00000610696.4:c.*700del ENSP00000483159.1:n.*700del
ENST00000613514.4:c.*844del ENSP00000484137.1:n.*844del
ENST00000617333.3:c.*1070del ENSP00000482468.1:n.*1070del
ENST00000617938.4:c.*1276del ENSP00000481158.1:n.*1276del
ENST00000621359.2:c.2304del ENSP00000481416.1:p.Glu768AspfsTer18
NM_000251.2:c.2304del , LRG_218t1:c.2304del NP_000242.1:p.Glu768AspfsTer?
NM_001258281.1:c.2106del NP_001245210.1:p.Glu702AspfsTer?
XM_005264332.2:c.2304del XP_005264389.2:p.Glu768AspfsTer?
XM_011532867.1:c.2304del XP_011531169.1:p.Glu768AspfsTer?
XR_939685.1:n.2376del
XM_005264332.4:c.2304del XP_005264389.2:p.Glu768AspfsTer?
XM_011532867.2:c.2304del XP_011531169.1:p.Glu768AspfsTer?
XR_001738747.2:n.2366del
XR_939685.2:n.2366del
NM_000251.3:c.2304del MANE Select NP_000242.1:p.Glu768AspfsTer?
Search 100 bp 5'
Search 100 bp 3'