Canonical Allele Identifier: CA022473
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91237
ClinVar RCV Id: RCV000076742
dbSNP Id: rs63751115
MyVariant Identifiers: chr2:g.47641496_47641497del (hg19) chr2:g.47414357_47414358del (hg38)
PubMed: PMID:16181381 PMID:16826164 PMID:17473388 PMID:17505997
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47414357_47414358del , CM000664.2:g.47414357_47414358del GRCh38
NC_000002.11:g.47641496_47641497del , CM000664.1:g.47641496_47641497del GRCh37
NC_000002.10:g.47495000_47495001del NCBI36
NG_007110.2:g.16234_16235del , LRG_218:g.16234_16235del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.881_882del ENSP00000495641.2:p.Phe294Ter
ENST00000233146.7:c.881_882del MANE Select ENSP00000233146.2:p.Phe294Ter
ENST00000543555.6:c.683_684del ENSP00000442697.1:p.Phe228Ter
ENST00000644092.1:c.881_882del ENSP00000496351.1:p.Phe294Ter
ENST00000645339.1:c.881_882del ENSP00000496441.1:p.Phe294Ter
ENST00000645506.1:c.881_882del ENSP00000495455.1:p.Phe294Ter
ENST00000646415.1:c.881_882del ENSP00000495543.1:p.Phe294Ter
ENST00000233146.6:c.881_882del ENSP00000233146.2:p.Phe294Ter
ENST00000406134.5:c.881_882del ENSP00000384199.1:p.Phe294Ter
ENST00000543555.5:c.683_684del ENSP00000442697.1:p.Phe228Ter
ENST00000610696.4:c.881_882del ENSP00000483159.1:p.Phe294Ter
ENST00000613514.4:c.881_882del ENSP00000484137.1:p.Phe294Ter
ENST00000617333.3:c.881_882del ENSP00000482468.1:p.Phe294Ter
ENST00000617938.4:c.881_882del ENSP00000481158.1:p.Phe294Ter
ENST00000621359.2:c.881_882del ENSP00000481416.1:p.Phe294Ter
NM_000251.2:c.881_882del , LRG_218t1:c.881_882del NP_000242.1:p.Phe294Ter
NM_001258281.1:c.683_684del NP_001245210.1:p.Phe228Ter
XM_005264332.2:c.881_882del XP_005264389.2:p.Phe294Ter
XM_011532867.1:c.881_882del XP_011531169.1:p.Phe294Ter
XR_939685.1:n.953_954del
XM_005264332.4:c.881_882del XP_005264389.2:p.Phe294Ter
XM_011532867.2:c.881_882del XP_011531169.1:p.Phe294Ter
XR_001738747.2:n.943_944del
XR_939685.2:n.943_944del
NM_000251.3:c.881_882del MANE Select NP_000242.1:p.Phe294Ter
Search 100 bp 5'
Search 100 bp 3'