{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16612382", "communityStandardTitle": [ "NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=396341[alleleid]", "alleleId": 396341, "preferredName": "NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/411015", "RCV": [ "RCV000477621", "RCV000521108", "RCV003449153" ], "variationId": 411015 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.6018310A>C?assembly=hg19", "id": "chr7:g.6018310A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.5978679A>C?assembly=hg38", "id": "chr7:g.5978679A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503110", "rs": 1060503110 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-5978679-A-C?dataset=gnomad_r4", "id": "7-5978679-A-C", "variant": "7:5978679 A / C" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "C", "end": 5978679, "referenceAllele": "A", "start": 5978678 } ], "hgvs": [ "NC_000007.14:g.5978679A>C", "CM000669.2:g.5978679A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "C", "end": 6018310, "referenceAllele": "A", "start": 6018309 } ], "hgvs": [ "NC_000007.13:g.6018310A>C", "CM000669.1:g.6018310A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "C", "end": 5984836, "referenceAllele": "A", "start": 5984835 } ], "hgvs": [ "NC_000007.12:g.5984836A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "G", "end": 35428, "referenceAllele": "T", "start": 35427 } ], "hgvs": [ "NG_008466.1:g.35428T>G", "LRG_161:g.35428T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001109" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1921, "referenceAllele": "T", "start": 1920 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699814.2:c.*1588T>G" ], "proteinEffect": { "hgvs": "ENSP00000514615.2:n.*1588T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914474" }, { "coordinates": [ { "allele": "G", "end": 2257, "referenceAllele": "T", "start": 2256 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699840.2:c.2189T>G" ], "proteinEffect": { "hgvs": "ENSP00000514638.2:p.Leu730Ter", "hgvsWellDefined": "ENSP00000514638.2:p.Leu730_Asn861delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914475" }, { "coordinates": [ { "allele": "G", "end": 2164, "referenceAllele": "T", "start": 2163 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699930.2:c.2084T>G" ], "proteinEffect": { "hgvs": "ENSP00000514695.2:p.Leu695Ter", "hgvsWellDefined": "ENSP00000514695.2:p.Leu695_Asn826delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914476" }, { "coordinates": [ { "allele": "G", "end": 1678, "endIntronDirection": "-", "endIntronOffset": 964, "referenceAllele": "T", "start": 1678, "startIntronDirection": "-", "startIntronOffset": 965 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000406569.8:c.1679-965T>G" ], "proteinEffect": { "hgvs": "ENSP00000514464.1:n.1679-965T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS904664" }, { "coordinates": [ { "allele": "G", "end": 2112, "referenceAllele": "T", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000644110.2:c.*1786T>G" ], "proteinEffect": { "hgvs": "ENSP00000496392.2:n.*1786T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS906425" }, { "coordinates": [ { "allele": "G", "end": 2066, "referenceAllele": "T", "start": 2065 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699752.1:c.2036T>G" ], "proteinEffect": { "hgvs": "ENSP00000514561.1:p.Leu679Ter", "hgvsWellDefined": "ENSP00000514561.1:p.Leu679_Asn810delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910625" }, { "coordinates": [ { "allele": "G", "end": 2199, "referenceAllele": "T", "start": 2198 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699753.1:c.*1613T>G" ], "proteinEffect": { "hgvs": "ENSP00000514562.1:n.*1613T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910626" }, { "coordinates": [ { "allele": "G", "end": 2039, "referenceAllele": "T", "start": 2038 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699754.1:c.1994T>G" ], "proteinEffect": { "hgvs": "ENSP00000514563.1:p.Leu665Ter", "hgvsWellDefined": "ENSP00000514563.1:p.Leu665_Asn796delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910627" }, { "coordinates": [ { "allele": "G", "end": 2192, "referenceAllele": "T", "start": 2191 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699755.1:c.*1591T>G" ], "proteinEffect": { "hgvs": "ENSP00000514564.1:n.*1591T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910628" }, { "coordinates": [ { "allele": "G", "end": 2193, "referenceAllele": "T", "start": 2192 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699756.1:c.*1779T>G" ], "proteinEffect": { "hgvs": "ENSP00000514565.1:n.*1779T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910629" }, { "coordinates": [ { "allele": "G", "end": 1916, "referenceAllele": "T", "start": 1915 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699757.1:c.*1449T>G" ], "proteinEffect": { "hgvs": "ENSP00000514566.1:n.*1449T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910630" }, { "coordinates": [ { "allele": "G", "end": 1970, "referenceAllele": "T", "start": 1969 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699758.1:c.*1449T>G" ], "proteinEffect": { "hgvs": "ENSP00000514567.1:n.*1449T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910631" }, { "coordinates": [ { "allele": "G", "end": 3046, "referenceAllele": "T", "start": 3045 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699759.1:n.3046T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910632" }, { "coordinates": [ { "allele": "G", "end": 2026, "referenceAllele": "T", "start": 2025 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699760.1:c.1874T>G" ], "proteinEffect": { "hgvs": "ENSP00000514568.1:p.Leu625Ter", "hgvsWellDefined": "ENSP00000514568.1:p.Leu625_Asn756delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910633" }, { "coordinates": [ { "allele": "G", "end": 2212, "referenceAllele": "T", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699761.1:c.1787T>G" ], "proteinEffect": { "hgvs": "ENSP00000514569.1:p.Leu596Ter", "hgvsWellDefined": "ENSP00000514569.1:p.Leu596_Asn727delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910634" }, { "coordinates": [ { "allele": "G", "end": 2099, "referenceAllele": "T", "start": 2098 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699762.1:c.1619T>G" ], "proteinEffect": { "hgvs": "ENSP00000514570.1:p.Leu540Ter", "hgvsWellDefined": "ENSP00000514570.1:p.Leu540_Asn671delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910635" }, { "coordinates": [ { "allele": "G", "end": 2389, "referenceAllele": "T", "start": 2388 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699763.1:c.*1282T>G" ], "proteinEffect": { "hgvs": "ENSP00000514571.1:n.*1282T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910636" }, { "coordinates": [ { "allele": "G", "end": 2157, "referenceAllele": "T", "start": 2156 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699764.1:c.*510T>G" ], "proteinEffect": { "hgvs": "ENSP00000514572.1:n.*510T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910637" }, { "coordinates": [ { "allele": "G", "end": 2031, "endIntronDirection": "-", "endIntronOffset": 921, "referenceAllele": "T", "start": 2031, "startIntronDirection": "-", "startIntronOffset": 922 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699765.1:c.*1271-922T>G" ], "proteinEffect": { "hgvs": "ENSP00000514573.1:n.*1271-922T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910638" }, { "coordinates": [ { "allele": "G", "end": 2295, "referenceAllele": "T", "start": 2294 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699766.1:c.2192T>G" ], "proteinEffect": { "hgvs": "ENSP00000514574.1:p.Leu731Ter", "hgvsWellDefined": "ENSP00000514574.1:p.Leu731_Asn873delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910639" }, { "coordinates": [ { "allele": "G", "end": 2295, "referenceAllele": "T", "start": 2294 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699767.1:c.2192T>G" ], "proteinEffect": { "hgvs": "ENSP00000514575.1:p.Leu731Ter", "hgvsWellDefined": "ENSP00000514575.1:p.Leu731_Asn771delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValLysThrGlyProSerAspProArgThrSerMetAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910640" }, { "coordinates": [ { "allele": "G", "end": 2277, "endIntronDirection": "-", "endIntronOffset": 964, "referenceAllele": "T", "start": 2277, "startIntronDirection": "-", "startIntronOffset": 965 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699768.1:c.2175-965T>G" ], "proteinEffect": { "hgvs": "ENSP00000514576.1:n.2175-965T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910641" }, { "coordinates": [ { "allele": "G", "end": 2392, "referenceAllele": "T", "start": 2391 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699811.1:c.1787T>G" ], "proteinEffect": { "hgvs": "ENSP00000514614.1:p.Leu596Ter", "hgvsWellDefined": "ENSP00000514614.1:p.Leu596_Asn727delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910684" }, { "coordinates": [ { "allele": "G", "end": 2305, "referenceAllele": "T", "start": 2304 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699813.1:n.2305T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910685" }, { "coordinates": [ { "allele": "G", "end": 1815, "referenceAllele": "T", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699814.1:c.1815T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910686" }, { "coordinates": [ { "allele": "G", "end": 2360, "referenceAllele": "T", "start": 2359 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699815.1:c.*1723T>G" ], "proteinEffect": { "hgvs": "ENSP00000514616.1:n.*1723T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910687" }, { "coordinates": [ { "allele": "G", "end": 2559, "referenceAllele": "T", "start": 2558 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699816.1:c.*1082T>G" ], "proteinEffect": { "hgvs": "ENSP00000514617.1:n.*1082T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910688" }, { "coordinates": [ { "allele": "G", "end": 2032, "referenceAllele": "T", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699817.1:c.*1786T>G" ], "proteinEffect": { "hgvs": "ENSP00000514618.1:n.*1786T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910689" }, { "coordinates": [ { "allele": "G", "end": 2412, "referenceAllele": "T", "start": 2411 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699818.1:c.1787T>G" ], "proteinEffect": { "hgvs": "ENSP00000514619.1:p.Leu596Ter", "hgvsWellDefined": "ENSP00000514619.1:p.Leu596_Asn727delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910690" }, { "coordinates": [ { "allele": "G", "end": 2263, "referenceAllele": "T", "start": 2262 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699819.1:c.*1349T>G" ], "proteinEffect": { "hgvs": "ENSP00000514620.1:n.*1349T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910691" }, { "coordinates": [ { "allele": "G", "end": 1441, "referenceAllele": "T", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699820.1:c.*130T>G" ], "proteinEffect": { "hgvs": "ENSP00000514621.1:n.*130T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910692" }, { "coordinates": [ { "allele": "G", "end": 2273, "referenceAllele": "T", "start": 2272 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699821.1:c.1787T>G" ], "proteinEffect": { "hgvs": "ENSP00000514622.1:p.Leu596Ter", "hgvsWellDefined": "ENSP00000514622.1:p.Leu596_Asn738delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910693" }, { "coordinates": [ { "allele": "G", "end": 2275, "referenceAllele": "T", "start": 2274 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699822.1:c.*1644T>G" ], "proteinEffect": { "hgvs": "ENSP00000514623.1:n.*1644T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910694" }, { "coordinates": [ { "allele": "G", "end": 2044, "referenceAllele": "T", "start": 2043 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699823.1:c.1787T>G" ], "proteinEffect": { "hgvs": "ENSP00000514624.1:p.Leu596Ter", "hgvsWellDefined": "ENSP00000514624.1:p.Leu596_Asn727delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910695" }, { "coordinates": [ { "allele": "G", "end": 2364, "referenceAllele": "T", "start": 2363 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699824.1:c.*1695T>G" ], "proteinEffect": { "hgvs": "ENSP00000514625.1:n.*1695T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910696" }, { "coordinates": [ { "allele": "G", "end": 2087, "referenceAllele": "T", "start": 2086 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699825.1:c.1631T>G" ], "proteinEffect": { "hgvs": "ENSP00000514626.1:p.Leu544Ter", "hgvsWellDefined": "ENSP00000514626.1:p.Leu544_Asn675delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910697" }, { "coordinates": [ { "allele": "G", "end": 2068, "referenceAllele": "T", "start": 2067 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699826.1:c.*1591T>G" ], "proteinEffect": { "hgvs": "ENSP00000514627.1:n.*1591T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910698" }, { "coordinates": [ { "allele": "G", "end": 2104, "referenceAllele": "T", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699827.1:c.2024T>G" ], "proteinEffect": { "hgvs": "ENSP00000514628.1:p.Leu675Ter", "hgvsWellDefined": "ENSP00000514628.1:p.Leu675_Asn806delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910699" }, { "coordinates": [ { "allele": "G", "end": 2419, "referenceAllele": "T", "start": 2418 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699828.1:c.*1282T>G" ], "proteinEffect": { "hgvs": "ENSP00000514629.1:n.*1282T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910700" }, { "coordinates": [ { "allele": "G", "end": 3964, "referenceAllele": "T", "start": 3963 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699833.1:n.3964T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910705" }, { "coordinates": [ { "allele": "G", "end": 2129, "referenceAllele": "T", "start": 2128 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699837.1:c.1787T>G" ], "proteinEffect": { "hgvs": "ENSP00000514635.1:p.Leu596Ter", "hgvsWellDefined": "ENSP00000514635.1:p.Leu596_Asn727delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910709" }, { "coordinates": [ { "allele": "G", "end": 2388, "referenceAllele": "T", "start": 2387 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699838.1:c.*2092T>G" ], "proteinEffect": { "hgvs": "ENSP00000514636.1:n.*2092T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910710" }, { "coordinates": [ { "allele": "G", "end": 2443, "referenceAllele": "T", "start": 2442 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699839.1:c.2378T>G" ], "proteinEffect": { "hgvs": "ENSP00000514637.1:p.Leu793Ter", "hgvsWellDefined": "ENSP00000514637.1:p.Leu793_Asn924delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS910711" }, { "coordinates": [ { "allele": "G", "end": 2187, "referenceAllele": "T", "start": 2186 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699916.1:c.*1449T>G" ], "proteinEffect": { "hgvs": "ENSP00000514684.1:n.*1449T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910788" }, { "coordinates": [ { "allele": "G", "end": 2345, "referenceAllele": "T", "start": 2344 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699917.1:c.*1641T>G" ], "proteinEffect": { "hgvs": "ENSP00000514685.1:n.*1641T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910789" }, { "coordinates": [ { "allele": "G", "end": 2397, "referenceAllele": "T", "start": 2396 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699918.1:c.*1693T>G" ], "proteinEffect": { "hgvs": "ENSP00000514686.1:n.*1693T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910790" }, { "coordinates": [ { "allele": "G", "end": 2483, "referenceAllele": "T", "start": 2482 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699919.1:c.*1779T>G" ], "proteinEffect": { "hgvs": "ENSP00000514687.1:n.*1779T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910791" }, { "coordinates": [ { "allele": "G", "end": 2532, "referenceAllele": "T", "start": 2531 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699920.1:c.*1828T>G" ], "proteinEffect": { "hgvs": "ENSP00000514688.1:n.*1828T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910792" }, { "coordinates": [ { "allele": "G", "end": 1285, "referenceAllele": "T", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699928.1:c.*130T>G" ], "proteinEffect": { "hgvs": "ENSP00000514693.1:n.*130T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910800" }, { "coordinates": [ { "allele": "G", "end": 2172, "referenceAllele": "T", "start": 2171 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699951.1:c.*1288T>G" ], "proteinEffect": { "hgvs": "ENSP00000514706.1:n.*1288T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910822" }, { "coordinates": [ { "allele": "G", "end": 883, "endIntronDirection": "-", "endIntronOffset": 5136, "referenceAllele": "T", "start": 883, "startIntronDirection": "-", "startIntronOffset": 5137 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699952.1:c.804-5137T>G" ], "proteinEffect": { "hgvs": "ENSP00000514707.1:n.804-5137T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910823" }, { "coordinates": [ { "allele": "G", "end": 2222, "referenceAllele": "T", "start": 2221 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000265849.12:c.2192T>G" ], "proteinEffect": { "hgvs": "ENSP00000265849.7:p.Leu731Ter", "hgvsWellDefined": "ENSP00000265849.7:p.Leu731_Asn862delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS742894", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265849.12:c.2192T>G" }, "RefSeq": { "hgvs": "NM_000535.7:c.2192T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265849.7:p.Leu731Ter" }, "RefSeq": { "hgvs": "NP_000526.2:p.Leu731Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 2130, "referenceAllele": "T", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000642292.1:c.1787T>G" ], "proteinEffect": { "hgvs": "ENSP00000495524.1:p.Leu596Ter", "hgvsWellDefined": "ENSP00000495524.1:p.Leu596_Asn727delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766664" }, { "coordinates": [ { "allele": "G", "end": 2243, "referenceAllele": "T", "start": 2242 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000642456.1:c.1787T>G" ], "proteinEffect": { "hgvs": "ENSP00000493814.1:p.Leu596Ter", "hgvsWellDefined": "ENSP00000493814.1:p.Leu596_Asn727delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766755" }, { "coordinates": [ { "allele": "G", "end": 2165, "referenceAllele": "T", "start": 2164 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000643595.1:c.*1591T>G" ], "proteinEffect": { "hgvs": "ENSP00000494497.1:n.*1591T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767363" }, { "coordinates": [ { "allele": "G", "end": 1874, "referenceAllele": "T", "start": 1873 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000644110.1:c.1874T>G" ], "proteinEffect": { "hgvs": "ENSP00000496392.1:p.Leu625Ter", "hgvsWellDefined": "ENSP00000496392.1:p.Leu625_Asn756delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767638" }, { "coordinates": [ { "allele": "G", "end": 2298, "referenceAllele": "T", "start": 2297 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000265849.11:c.2192T>G" ], "proteinEffect": { "hgvs": "ENSP00000265849.7:p.Leu731Ter", "hgvsWellDefined": "ENSP00000265849.7:p.Leu731_Asn862delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246729" }, { "coordinates": [ { "allele": "G", "end": 989, "referenceAllele": "T", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000382321.5:c.989T>G" ], "proteinEffect": { "hgvs": "ENSP00000371758.4:p.Leu330Ter", "hgvsWellDefined": "ENSP00000371758.4:p.Leu330_Asn461delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247172" }, { "coordinates": [ { "allele": "G", "end": 1678, "endIntronDirection": "-", "endIntronOffset": 964, "referenceAllele": "T", "start": 1678, "startIntronDirection": "-", "startIntronOffset": 965 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000406569.7:n.1679-965T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS280678" }, { "coordinates": [ { "allele": "G", "end": 2176, "referenceAllele": "T", "start": 2175 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000441476.6:c.1874T>G" ], "proteinEffect": { "hgvs": "ENSP00000392843.2:p.Leu625Ter", "hgvsWellDefined": "ENSP00000392843.2:p.Leu625_Asn756delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247356" }, { "coordinates": [ { "allele": "G", "end": 2279, "referenceAllele": "T", "start": 2278 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.5:c.2192T>G", "LRG_161t1:c.2192T>G" ], "proteinEffect": { "hgvs": "NP_000526.1:p.Leu731Ter", "hgvsWellDefined": "NP_000526.1:p.Leu731_Asn862delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006593" }, { "coordinates": [ { "allele": "G", "end": 2274, "referenceAllele": "T", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NR_003085.2:n.2274T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS046147" }, { "coordinates": [ { "allele": "G", "end": 2229, "referenceAllele": "T", "start": 2228 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_006715742.2:c.2186T>G" ], "proteinEffect": { "hgvs": "XP_006715805.1:p.Leu729Ter", "hgvsWellDefined": "XP_006715805.1:p.Leu729_Asn860delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071329" }, { "coordinates": [ { "allele": "G", "end": 1355, "referenceAllele": "T", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_006715744.2:c.1259T>G" ], "proteinEffect": { "hgvs": "XP_006715807.1:p.Leu420Ter", "hgvsWellDefined": "XP_006715807.1:p.Leu420_Asn551delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS071330" }, { "coordinates": [ { "allele": "G", "end": 2252, "referenceAllele": "T", "start": 2251 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515427.1:c.2237T>G" ], "proteinEffect": { "hgvs": "XP_011513729.1:p.Leu746Ter", "hgvsWellDefined": "XP_011513729.1:p.Leu746_Asn877delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082647" }, { "coordinates": [ { "allele": "G", "end": 2096, "referenceAllele": "T", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515428.1:c.2081T>G" ], "proteinEffect": { "hgvs": "XP_011513730.1:p.Leu694Ter", "hgvsWellDefined": "XP_011513730.1:p.Leu694_Asn825delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082648" }, { "coordinates": [ { "allele": "G", "end": 2176, "referenceAllele": "T", "start": 2175 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515429.1:c.1874T>G" ], "proteinEffect": { "hgvs": "XP_011513731.1:p.Leu625Ter", "hgvsWellDefined": "XP_011513731.1:p.Leu625_Asn756delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082649" }, { "coordinates": [ { "allele": "G", "end": 2150, "referenceAllele": "T", "start": 2149 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515430.1:c.1874T>G" ], "proteinEffect": { "hgvs": "XP_011513732.1:p.Leu625Ter", "hgvsWellDefined": "XP_011513732.1:p.Leu625_Asn756delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS082650" }, { "@id": "http://reg.genome.network/allele/PA891864931", "coordinates": [ { "allele": "G", "end": 2279, "referenceAllele": "T", "start": 2278 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.6:c.2192T>G" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Leu731Ter", "hgvsWellDefined": "NP_000526.2:p.Leu731_Asn862delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510810" }, { "@id": "http://reg.genome.network/allele/PA2827102183", "coordinates": [ { "allele": "G", "end": 2274, "referenceAllele": "T", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.1:c.1787T>G" ], "proteinEffect": { "hgvs": "NP_001308932.1:p.Leu596Ter", "hgvsWellDefined": "NP_001308932.1:p.Leu596_Asn727delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514675" }, { "@id": "http://reg.genome.network/allele/PA2827108999", "coordinates": [ { "allele": "G", "end": 2139, "referenceAllele": "T", "start": 2138 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.1:c.1787T>G" ], "proteinEffect": { "hgvs": "NP_001308933.1:p.Leu596Ter", "hgvsWellDefined": "NP_001308933.1:p.Leu596_Asn727delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514676" }, { "@id": "http://reg.genome.network/allele/PA2827113368", "coordinates": [ { "allele": "G", "end": 2391, "referenceAllele": "T", "start": 2390 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.1:c.1787T>G" ], "proteinEffect": { "hgvs": "NP_001308934.1:p.Leu596Ter", "hgvsWellDefined": "NP_001308934.1:p.Leu596_Asn727delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514677" }, { "@id": "http://reg.genome.network/allele/PA2827116550", "coordinates": [ { "allele": "G", "end": 2123, "referenceAllele": "T", "start": 2122 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.1:c.2036T>G" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Leu679Ter", "hgvsWellDefined": "NP_001308935.1:p.Leu679_Asn810delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514678" }, { "@id": "http://reg.genome.network/allele/PA2827119472", "coordinates": [ { "allele": "G", "end": 2176, "referenceAllele": "T", "start": 2175 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.1:c.1874T>G" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Leu625Ter", "hgvsWellDefined": "NP_001308936.1:p.Leu625_Asn756delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514679" }, { "@id": "http://reg.genome.network/allele/PA2827120946", "coordinates": [ { "allele": "G", "end": 2036, "referenceAllele": "T", "start": 2035 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.1:c.1874T>G" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Leu625Ter", "hgvsWellDefined": "NP_001308937.1:p.Leu625_Asn756delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514680" }, { "@id": "http://reg.genome.network/allele/PA2827125209", "coordinates": [ { "allele": "G", "end": 2386, "referenceAllele": "T", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.1:c.1787T>G" ], "proteinEffect": { "hgvs": "NP_001308938.1:p.Leu596Ter", "hgvsWellDefined": "NP_001308938.1:p.Leu596_Asn738delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514681" }, { "@id": "http://reg.genome.network/allele/PA2827127793", "coordinates": [ { "allele": "G", "end": 1983, "referenceAllele": "T", "start": 1982 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.1:c.1631T>G" ], "proteinEffect": { "hgvs": "NP_001308939.1:p.Leu544Ter", "hgvsWellDefined": "NP_001308939.1:p.Leu544_Asn675delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514682" }, { "@id": "http://reg.genome.network/allele/PA2827129895", "coordinates": [ { "allele": "G", "end": 2230, "referenceAllele": "T", "start": 2229 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.1:c.1259T>G" ], "proteinEffect": { "hgvs": "NP_001308940.1:p.Leu420Ter", "hgvsWellDefined": "NP_001308940.1:p.Leu420_Asn551delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514683" }, { "@id": "http://reg.genome.network/allele/PA2827131810", "coordinates": [ { "allele": "G", "end": 2225, "referenceAllele": "T", "start": 2224 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.1:c.1259T>G" ], "proteinEffect": { "hgvs": "NP_001308941.1:p.Leu420Ter", "hgvsWellDefined": "NP_001308941.1:p.Leu420_Asn551delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514684" }, { "@id": "http://reg.genome.network/allele/PA2827134237", "coordinates": [ { "allele": "G", "end": 2106, "referenceAllele": "T", "start": 2105 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.1:c.1619T>G" ], "proteinEffect": { "hgvs": "NP_001308942.1:p.Leu540Ter", "hgvsWellDefined": "NP_001308942.1:p.Leu540_Asn671delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514685" }, { "@id": "http://reg.genome.network/allele/PA916026176", "coordinates": [ { "allele": "G", "end": 2279, "referenceAllele": "T", "start": 2278 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.1:c.2192T>G" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Leu731Ter", "hgvsWellDefined": "NP_001308943.1:p.Leu731_Asn873delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514686" }, { "@id": "http://reg.genome.network/allele/PA2827139023", "coordinates": [ { "allele": "G", "end": 2449, "referenceAllele": "T", "start": 2448 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.1:c.1883T>G" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Leu628Ter", "hgvsWellDefined": "NP_001308944.1:p.Leu628_Asn759delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514687" }, { "coordinates": [ { "allele": "G", "end": 2279, "referenceAllele": "T", "start": 2278 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NR_136154.1:n.2279T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS528598" }, { "coordinates": [ { "allele": "G", "end": 1355, "referenceAllele": "T", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_006715744.4:c.1259T>G" ], "proteinEffect": { "hgvs": "XP_006715807.1:p.Leu420Ter", "hgvsWellDefined": "XP_006715807.1:p.Leu420_Asn551delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539015" }, { "coordinates": [ { "allele": "G", "end": 2104, "referenceAllele": "T", "start": 2103 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_017012342.2:c.1259T>G" ], "proteinEffect": { "hgvs": "XP_016867831.1:p.Leu420Ter", "hgvsWellDefined": "XP_016867831.1:p.Leu420_Asn551delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565972" }, { "coordinates": [ { "allele": "G", "end": 2108, "referenceAllele": "T", "start": 2107 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_024446800.1:c.1631T>G" ], "proteinEffect": { "hgvs": "XP_024302568.1:p.Leu544Ter", "hgvsWellDefined": "XP_024302568.1:p.Leu544_Asn675delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580450" }, { "@id": "http://reg.genome.network/allele/PA891864931", "coordinates": [ { "allele": "G", "end": 2222, "referenceAllele": "T", "start": 2221 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.7:c.2192T>G" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Leu731Ter", "hgvsWellDefined": "NP_000526.2:p.Leu731_Asn862delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662478", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265849.12:c.2192T>G" }, "RefSeq": { "hgvs": "NM_000535.7:c.2192T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265849.7:p.Leu731Ter" }, "RefSeq": { "hgvs": "NP_000526.2:p.Leu731Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827102183", "coordinates": [ { "allele": "G", "end": 2217, "referenceAllele": "T", "start": 2216 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.2:c.1787T>G" ], "proteinEffect": { "hgvs": "NP_001308932.1:p.Leu596Ter", "hgvsWellDefined": "NP_001308932.1:p.Leu596_Asn727delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685612" }, { "@id": "http://reg.genome.network/allele/PA2827108999", "coordinates": [ { "allele": "G", "end": 2082, "referenceAllele": "T", "start": 2081 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.2:c.1787T>G" ], "proteinEffect": { "hgvs": "NP_001308933.1:p.Leu596Ter", "hgvsWellDefined": "NP_001308933.1:p.Leu596_Asn727delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685613" }, { "@id": "http://reg.genome.network/allele/PA2827113368", "coordinates": [ { "allele": "G", "end": 2412, "referenceAllele": "T", "start": 2411 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.2:c.1787T>G" ], "proteinEffect": { "hgvs": "NP_001308934.1:p.Leu596Ter", "hgvsWellDefined": "NP_001308934.1:p.Leu596_Asn727delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685614" }, { "@id": "http://reg.genome.network/allele/PA2827116550", "coordinates": [ { "allele": "G", "end": 2066, "referenceAllele": "T", "start": 2065 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.2:c.2036T>G" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Leu679Ter", "hgvsWellDefined": "NP_001308935.1:p.Leu679_Asn810delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685615" }, { "@id": "http://reg.genome.network/allele/PA2827120946", "coordinates": [ { "allele": "G", "end": 1979, "referenceAllele": "T", "start": 1978 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.2:c.1874T>G" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Leu625Ter", "hgvsWellDefined": "NP_001308937.1:p.Leu625_Asn756delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685616" }, { "@id": "http://reg.genome.network/allele/PA2827125209", "coordinates": [ { "allele": "G", "end": 2407, "referenceAllele": "T", "start": 2406 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.2:c.1787T>G" ], "proteinEffect": { "hgvs": "NP_001308938.1:p.Leu596Ter", "hgvsWellDefined": "NP_001308938.1:p.Leu596_Asn738delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685617" }, { "@id": "http://reg.genome.network/allele/PA2827127793", "coordinates": [ { "allele": "G", "end": 1926, "referenceAllele": "T", "start": 1925 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.2:c.1631T>G" ], "proteinEffect": { "hgvs": "NP_001308939.1:p.Leu544Ter", "hgvsWellDefined": "NP_001308939.1:p.Leu544_Asn675delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685618" }, { "@id": "http://reg.genome.network/allele/PA2827129895", "coordinates": [ { "allele": "G", "end": 2173, "referenceAllele": "T", "start": 2172 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.2:c.1259T>G" ], "proteinEffect": { "hgvs": "NP_001308940.1:p.Leu420Ter", "hgvsWellDefined": "NP_001308940.1:p.Leu420_Asn551delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685619" }, { "@id": "http://reg.genome.network/allele/PA2827131810", "coordinates": [ { "allele": "G", "end": 2168, "referenceAllele": "T", "start": 2167 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.2:c.1259T>G" ], "proteinEffect": { "hgvs": "NP_001308941.1:p.Leu420Ter", "hgvsWellDefined": "NP_001308941.1:p.Leu420_Asn551delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685620" }, { "@id": "http://reg.genome.network/allele/PA2827134237", "coordinates": [ { "allele": "G", "end": 2049, "referenceAllele": "T", "start": 2048 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.2:c.1619T>G" ], "proteinEffect": { "hgvs": "NP_001308942.1:p.Leu540Ter", "hgvsWellDefined": "NP_001308942.1:p.Leu540_Asn671delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685621" }, { "@id": "http://reg.genome.network/allele/PA916026176", "coordinates": [ { "allele": "G", "end": 2222, "referenceAllele": "T", "start": 2221 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.2:c.2192T>G" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Leu731Ter", "hgvsWellDefined": "NP_001308943.1:p.Leu731_Asn873delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnValMetAspPheSerGlnAsnCysIleLeuLeuAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685622" }, { "@id": "http://reg.genome.network/allele/PA2827139023", "coordinates": [ { "allele": "G", "end": 2392, "referenceAllele": "T", "start": 2391 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.2:c.1883T>G" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Leu628Ter", "hgvsWellDefined": "NP_001308944.1:p.Leu628_Asn759delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685623" }, { "@id": "http://reg.genome.network/allele/PA2827119472", "coordinates": [ { "allele": "G", "end": 2119, "referenceAllele": "T", "start": 2118 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.2:c.1874T>G" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Leu625Ter", "hgvsWellDefined": "NP_001308936.1:p.Leu625_Asn756delinsThrAlaValAsnGluAlaValLeuIleGluAsnLeuGluIlePheArgLysAsnGlyPheAspPheValIleAspGluAsnAlaProValThrGluArgAlaLysLeuIleSerLeuProThrSerLysAsnTrpThrPheGlyProGlnAspValAspGluLeuIlePheMetLeuSerAspSerProGlyValMetCysArgProSerArgValLysGlnMetPheAlaSerArgAlaCysArgLysSerValMetIleGlyThrAlaLeuAsnThrSerGluMetLysLysLeuIleThrHisMetGlyGluMetAspHisProTrpAsnCysProHisGlyArgProThrMetArgHisIleAlaAsnLeuGlyValIleSerGlnAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718053" } ], "type": "nucleotide" }