Canonical Allele Identifier: CA022155
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91195
ClinVar RCV Id: RCV000076699 RCV000164791 RCV001380410 RCV003452964
dbSNP Id: rs63749832
gnomAD v4: 2-47412509-CA-C
MyVariant Identifiers: chr2:g.47639653del (hg19) chr2:g.47412514del (hg38)
PubMed: PMID:15571801 PMID:21642682
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47412514del , CM000664.2:g.47412514del GRCh38
NC_000002.11:g.47639653del , CM000664.1:g.47639653del GRCh37
NC_000002.10:g.47493157del NCBI36
NG_007110.2:g.14391del , LRG_218:g.14391del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.746del ENSP00000495641.2:p.Lys249ArgfsTer5
ENST00000233146.7:c.746del MANE Select ENSP00000233146.2:p.Lys249ArgfsTer5
ENST00000543555.6:c.548del ENSP00000442697.1:p.Lys183ArgfsTer5
ENST00000644092.1:c.746del ENSP00000496351.1:p.Lys249ArgfsTer5
ENST00000645339.1:c.746del ENSP00000496441.1:p.Lys249ArgfsTer5
ENST00000645506.1:c.746del ENSP00000495455.1:p.Lys249ArgfsTer5
ENST00000646415.1:c.746del ENSP00000495543.1:p.Lys249ArgfsTer5
ENST00000233146.6:c.746del ENSP00000233146.2:p.Lys249ArgfsTer5
ENST00000406134.5:c.746del ENSP00000384199.1:p.Lys249ArgfsTer5
ENST00000543555.5:c.548del ENSP00000442697.1:p.Lys183ArgfsTer5
ENST00000610696.4:c.746del ENSP00000483159.1:p.Lys249ArgfsTer5
ENST00000613514.4:c.746del ENSP00000484137.1:p.Lys249ArgfsTer5
ENST00000617333.3:c.746del ENSP00000482468.1:p.Lys249ArgfsTer5
ENST00000617938.4:c.746del ENSP00000481158.1:p.Lys249ArgfsTer5
ENST00000621359.2:c.746del ENSP00000481416.1:p.Lys249ArgfsTer5
NM_000251.2:c.746del , LRG_218t1:c.746del NP_000242.1:p.Lys249ArgfsTer5
NM_001258281.1:c.548del NP_001245210.1:p.Lys183ArgfsTer5
XM_005264332.2:c.746del XP_005264389.2:p.Lys249ArgfsTer5
XM_011532867.1:c.746del XP_011531169.1:p.Lys249ArgfsTer5
XR_939685.1:n.818del
XM_005264332.4:c.746del XP_005264389.2:p.Lys249ArgfsTer5
XM_011532867.2:c.746del XP_011531169.1:p.Lys249ArgfsTer5
XR_001738747.2:n.808del
XR_939685.2:n.808del
NM_000251.3:c.746del MANE Select NP_000242.1:p.Lys249ArgfsTer5
Search 100 bp 5'
Search 100 bp 3'