{{Rsnum
|rsid=1805319
|Gene=PMS2
|Chromosome=7
|position=5997349
|Orientation=minus
|GMAF=0.157
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=PMS2
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 4.8 | 24.2 | 71.0
| HCB | 2.3 | 11.4 | 86.4
| JPT | 0.0 | 9.5 | 90.5
| YRI | 0.0 | 17.7 | 82.3
| ASW | 0.0 | 0.0 | 0.0
| CHB | 2.3 | 11.4 | 86.4
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{ClinVar
|rsid=1805319
|Reversed=1
|FwdREF=C
|FwdALT=A,G
|REF=G
|ALT=C,T
|RSPOS=6036980
|CHROM=7
|GMAF=0.1571
|dbSNPBuildID=98
|SSR=0
|SAO=1
|VP=0x05036800000015051f100100
|GENEINFO=PMS2:5395
|GENE_NAME=PMS2
|GENE_ID=5395
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000007.13:g.6036980G>C
|CLNSRC=Emory University; InSiGHT
|CLNORIGIN=1
|CLNSIG=2
|CLNDBN=Lynch syndrome; AllHighlyPenetrant
|Disease=Lynch syndrome; AllHighlyPenetrant
|Tags=RV;PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD
|CAF=0.157; 0.843; .
|CLNACC=RCV000030372.2; RCV000079112.1
|CLNDSDB=GeneReviews:MedGen:SNOMED_CT; MedGen
|CLNDSDBID=NBK1211:C0009405:315058005; CN169374
|COMMON=1
|CLNSRCID=2842; c.780C>G_2
}}{{PMID Auto
|PMID=182681
|Title=Specific herpes simplex virus-induced incorporation of 5-iodo-5'-amino-2',5'-dideoxyuridine into deoxyribonucleic acid.
}}

{{PMID Auto
|PMID=8993976
|Title=Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer.
}}

{{PMID Auto
|PMID=15256438
|Title=Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.
}}

{{PMID Auto
|PMID=16472587
|Title=Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).
}}

{{PMID Auto
|PMID=19132747
|Title=PMS2 involvement in patients suspected of Lynch syndrome.
}}

{{PMID Auto
|PMID=20205264
|Title=Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
}}