{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA013361", "communityStandardTitle": [ "NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50161[alleleid]", "alleleId": 50161, "preferredName": "NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41722", "RCV": [ "RCV000034638", "RCV000115712", "RCV000212860", "RCV000987839", "RCV001083014", "RCV001354089", "RCV003952396" ], "variationId": 41722 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-6031639-T-C", "id": "7-6031639-T-C", "variant": "7:6031639 T / C" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.6031639T>C?assembly=hg19", "id": "chr7:g.6031639T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.5992008T>C?assembly=hg38", "id": "chr7:g.5992008T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/139438201", "rs": 139438201 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-6031639-T-C?dataset=gnomad_r2_1", "id": "7-6031639-T-C", "variant": "7:6031639 T / C" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-5992008-T-C?dataset=gnomad_r3", "id": "7-5992008-T-C", "variant": "7:5992008 T / C" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-5992008-T-C?dataset=gnomad_r4", "id": "7-5992008-T-C", "variant": "7:5992008 T / C" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "C", "end": 5992008, "referenceAllele": "T", "start": 5992007 } ], "hgvs": [ "NC_000007.14:g.5992008T>C", "CM000669.2:g.5992008T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "C", "end": 6031639, "referenceAllele": "T", "start": 6031638 } ], "hgvs": [ "NC_000007.13:g.6031639T>C", "CM000669.1:g.6031639T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "C", "end": 5998165, "referenceAllele": "T", "start": 5998164 } ], "hgvs": [ "NC_000007.12:g.5998165T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "G", "end": 22099, "referenceAllele": "A", "start": 22098 } ], "hgvs": [ "NG_008466.1:g.22099A>G", "LRG_161:g.22099A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS001109" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 682, "referenceAllele": "A", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699814.2:c.*349A>G" ], "proteinEffect": { "hgvs": "ENSP00000514615.2:n.*349A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914474" }, { "coordinates": [ { "allele": "G", "end": 1018, "referenceAllele": "A", "start": 1017 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699840.2:c.950A>G" ], "proteinEffect": { "hgvs": "ENSP00000514638.2:p.Tyr317Cys", "hgvsWellDefined": "ENSP00000514638.2:p.Tyr317Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914475" }, { "coordinates": [ { "allele": "G", "end": 925, "referenceAllele": "A", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699930.2:c.845A>G" ], "proteinEffect": { "hgvs": "ENSP00000514695.2:p.Tyr282Cys", "hgvsWellDefined": "ENSP00000514695.2:p.Tyr282Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914476" }, { "coordinates": [ { "allele": "G", "end": 953, "referenceAllele": "A", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000406569.8:c.953A>G" ], "proteinEffect": { "hgvs": "ENSP00000514464.1:p.Tyr318Cys", "hgvsWellDefined": "ENSP00000514464.1:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS904664" }, { "coordinates": [ { "allele": "G", "end": 873, "referenceAllele": "A", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000644110.2:c.*547A>G" ], "proteinEffect": { "hgvs": "ENSP00000496392.2:n.*547A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS906425" }, { "coordinates": [ { "allele": "G", "end": 983, "referenceAllele": "A", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699752.1:c.953A>G" ], "proteinEffect": { "hgvs": "ENSP00000514561.1:p.Tyr318Cys", "hgvsWellDefined": "ENSP00000514561.1:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910625" }, { "coordinates": [ { "allele": "G", "end": 838, "referenceAllele": "A", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699753.1:c.*252A>G" ], "proteinEffect": { "hgvs": "ENSP00000514562.1:n.*252A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910626" }, { "coordinates": [ { "allele": "G", "end": 800, "referenceAllele": "A", "start": 799 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699754.1:c.755A>G" ], "proteinEffect": { "hgvs": "ENSP00000514563.1:p.Tyr252Cys", "hgvsWellDefined": "ENSP00000514563.1:p.Tyr252Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910627" }, { "coordinates": [ { "allele": "G", "end": 953, "referenceAllele": "A", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699755.1:c.*352A>G" ], "proteinEffect": { "hgvs": "ENSP00000514564.1:n.*352A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910628" }, { "coordinates": [ { "allele": "G", "end": 954, "referenceAllele": "A", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699756.1:c.*540A>G" ], "proteinEffect": { "hgvs": "ENSP00000514565.1:n.*540A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910629" }, { "coordinates": [ { "allele": "G", "end": 677, "referenceAllele": "A", "start": 676 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699757.1:c.*210A>G" ], "proteinEffect": { "hgvs": "ENSP00000514566.1:n.*210A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910630" }, { "coordinates": [ { "allele": "G", "end": 731, "referenceAllele": "A", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699758.1:c.*210A>G" ], "proteinEffect": { "hgvs": "ENSP00000514567.1:n.*210A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910631" }, { "coordinates": [ { "allele": "G", "end": 1807, "referenceAllele": "A", "start": 1806 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699759.1:n.1807A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910632" }, { "coordinates": [ { "allele": "G", "end": 787, "referenceAllele": "A", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699760.1:c.635A>G" ], "proteinEffect": { "hgvs": "ENSP00000514568.1:p.Tyr212Cys", "hgvsWellDefined": "ENSP00000514568.1:p.Tyr212Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910633" }, { "coordinates": [ { "allele": "G", "end": 973, "referenceAllele": "A", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699761.1:c.548A>G" ], "proteinEffect": { "hgvs": "ENSP00000514569.1:p.Tyr183Cys", "hgvsWellDefined": "ENSP00000514569.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910634" }, { "coordinates": [ { "allele": "G", "end": 860, "referenceAllele": "A", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699762.1:c.380A>G" ], "proteinEffect": { "hgvs": "ENSP00000514570.1:p.Tyr127Cys", "hgvsWellDefined": "ENSP00000514570.1:p.Tyr127Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910635" }, { "coordinates": [ { "allele": "G", "end": 1028, "referenceAllele": "A", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699763.1:c.548A>G" ], "proteinEffect": { "hgvs": "ENSP00000514571.1:p.Tyr183Cys", "hgvsWellDefined": "ENSP00000514571.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910636" }, { "coordinates": [ { "allele": "G", "end": 1007, "referenceAllele": "A", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699764.1:c.953A>G" ], "proteinEffect": { "hgvs": "ENSP00000514572.1:p.Tyr318Cys", "hgvsWellDefined": "ENSP00000514572.1:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910637" }, { "coordinates": [ { "allele": "G", "end": 810, "referenceAllele": "A", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699765.1:c.*49A>G" ], "proteinEffect": { "hgvs": "ENSP00000514573.1:n.*49A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910638" }, { "coordinates": [ { "allele": "G", "end": 1056, "referenceAllele": "A", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699766.1:c.953A>G" ], "proteinEffect": { "hgvs": "ENSP00000514574.1:p.Tyr318Cys", "hgvsWellDefined": "ENSP00000514574.1:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910639" }, { "coordinates": [ { "allele": "G", "end": 1056, "referenceAllele": "A", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699767.1:c.953A>G" ], "proteinEffect": { "hgvs": "ENSP00000514575.1:p.Tyr318Cys", "hgvsWellDefined": "ENSP00000514575.1:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910640" }, { "coordinates": [ { "allele": "G", "end": 1056, "referenceAllele": "A", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699768.1:c.953A>G" ], "proteinEffect": { "hgvs": "ENSP00000514576.1:p.Tyr318Cys", "hgvsWellDefined": "ENSP00000514576.1:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910641" }, { "coordinates": [ { "allele": "G", "end": 1153, "referenceAllele": "A", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699811.1:c.548A>G" ], "proteinEffect": { "hgvs": "ENSP00000514614.1:p.Tyr183Cys", "hgvsWellDefined": "ENSP00000514614.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910684" }, { "coordinates": [ { "allele": "G", "end": 1066, "referenceAllele": "A", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699813.1:n.1066A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910685" }, { "coordinates": [ { "allele": "G", "end": 576, "referenceAllele": "A", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699814.1:c.576A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910686" }, { "coordinates": [ { "allele": "G", "end": 1082, "referenceAllele": "A", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699815.1:c.*445A>G" ], "proteinEffect": { "hgvs": "ENSP00000514616.1:n.*445A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910687" }, { "coordinates": [ { "allele": "G", "end": 1281, "referenceAllele": "A", "start": 1280 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699816.1:c.548A>G" ], "proteinEffect": { "hgvs": "ENSP00000514617.1:p.Tyr183Cys", "hgvsWellDefined": "ENSP00000514617.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910688" }, { "coordinates": [ { "allele": "G", "end": 793, "referenceAllele": "A", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699817.1:c.*547A>G" ], "proteinEffect": { "hgvs": "ENSP00000514618.1:n.*547A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910689" }, { "coordinates": [ { "allele": "G", "end": 1173, "referenceAllele": "A", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699818.1:c.548A>G" ], "proteinEffect": { "hgvs": "ENSP00000514619.1:p.Tyr183Cys", "hgvsWellDefined": "ENSP00000514619.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910690" }, { "coordinates": [ { "allele": "G", "end": 1024, "referenceAllele": "A", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699819.1:c.*110A>G" ], "proteinEffect": { "hgvs": "ENSP00000514620.1:n.*110A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910691" }, { "coordinates": [ { "allele": "G", "end": 1064, "referenceAllele": "A", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699820.1:c.953A>G" ], "proteinEffect": { "hgvs": "ENSP00000514621.1:p.Tyr318Cys", "hgvsWellDefined": "ENSP00000514621.1:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910692" }, { "coordinates": [ { "allele": "G", "end": 1034, "referenceAllele": "A", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699821.1:c.548A>G" ], "proteinEffect": { "hgvs": "ENSP00000514622.1:p.Tyr183Cys", "hgvsWellDefined": "ENSP00000514622.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910693" }, { "coordinates": [ { "allele": "G", "end": 1036, "referenceAllele": "A", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699822.1:c.*405A>G" ], "proteinEffect": { "hgvs": "ENSP00000514623.1:n.*405A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910694" }, { "coordinates": [ { "allele": "G", "end": 805, "referenceAllele": "A", "start": 804 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699823.1:c.548A>G" ], "proteinEffect": { "hgvs": "ENSP00000514624.1:p.Tyr183Cys", "hgvsWellDefined": "ENSP00000514624.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910695" }, { "coordinates": [ { "allele": "G", "end": 1125, "referenceAllele": "A", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699824.1:c.*456A>G" ], "proteinEffect": { "hgvs": "ENSP00000514625.1:n.*456A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910696" }, { "coordinates": [ { "allele": "G", "end": 1004, "referenceAllele": "A", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699825.1:c.548A>G" ], "proteinEffect": { "hgvs": "ENSP00000514626.1:p.Tyr183Cys", "hgvsWellDefined": "ENSP00000514626.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910697" }, { "coordinates": [ { "allele": "G", "end": 829, "referenceAllele": "A", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699826.1:c.*352A>G" ], "proteinEffect": { "hgvs": "ENSP00000514627.1:n.*352A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910698" }, { "coordinates": [ { "allele": "G", "end": 865, "referenceAllele": "A", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699827.1:c.785A>G" ], "proteinEffect": { "hgvs": "ENSP00000514628.1:p.Tyr262Cys", "hgvsWellDefined": "ENSP00000514628.1:p.Tyr262Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910699" }, { "coordinates": [ { "allele": "G", "end": 1058, "referenceAllele": "A", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699828.1:c.953A>G" ], "proteinEffect": { "hgvs": "ENSP00000514629.1:p.Tyr318Cys", "hgvsWellDefined": "ENSP00000514629.1:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910700" }, { "coordinates": [ { "allele": "G", "end": 1043, "referenceAllele": "A", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699829.1:c.*454A>G" ], "proteinEffect": { "hgvs": "ENSP00000514630.1:n.*454A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910701" }, { "coordinates": [ { "allele": "G", "end": 1007, "referenceAllele": "A", "start": 1006 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699830.1:c.*352A>G" ], "proteinEffect": { "hgvs": "ENSP00000514631.1:n.*352A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910702" }, { "coordinates": [ { "allele": "G", "end": 2725, "referenceAllele": "A", "start": 2724 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699833.1:n.2725A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910705" }, { "coordinates": [ { "allele": "G", "end": 890, "referenceAllele": "A", "start": 889 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699837.1:c.548A>G" ], "proteinEffect": { "hgvs": "ENSP00000514635.1:p.Tyr183Cys", "hgvsWellDefined": "ENSP00000514635.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910709" }, { "coordinates": [ { "allele": "G", "end": 1149, "referenceAllele": "A", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699838.1:c.*853A>G" ], "proteinEffect": { "hgvs": "ENSP00000514636.1:n.*853A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910710" }, { "coordinates": [ { "allele": "G", "end": 1204, "referenceAllele": "A", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699839.1:c.1139A>G" ], "proteinEffect": { "hgvs": "ENSP00000514637.1:p.Tyr380Cys", "hgvsWellDefined": "ENSP00000514637.1:p.Tyr380Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910711" }, { "coordinates": [ { "allele": "G", "end": 1018, "referenceAllele": "A", "start": 1017 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699840.1:c.950A>G" ], "proteinEffect": { "hgvs": "ENSP00000514638.1:p.Tyr317Cys", "hgvsWellDefined": "ENSP00000514638.1:p.Tyr317Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910712" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "A", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699916.1:c.*210A>G" ], "proteinEffect": { "hgvs": "ENSP00000514684.1:n.*210A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910788" }, { "coordinates": [ { "allele": "G", "end": 1106, "referenceAllele": "A", "start": 1105 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699917.1:c.*402A>G" ], "proteinEffect": { "hgvs": "ENSP00000514685.1:n.*402A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910789" }, { "coordinates": [ { "allele": "G", "end": 1158, "referenceAllele": "A", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699918.1:c.*454A>G" ], "proteinEffect": { "hgvs": "ENSP00000514686.1:n.*454A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910790" }, { "coordinates": [ { "allele": "G", "end": 1244, "referenceAllele": "A", "start": 1243 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699919.1:c.*540A>G" ], "proteinEffect": { "hgvs": "ENSP00000514687.1:n.*540A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910791" }, { "coordinates": [ { "allele": "G", "end": 1293, "referenceAllele": "A", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699920.1:c.*589A>G" ], "proteinEffect": { "hgvs": "ENSP00000514688.1:n.*589A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910792" }, { "coordinates": [ { "allele": "G", "end": 1064, "referenceAllele": "A", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699928.1:c.953A>G" ], "proteinEffect": { "hgvs": "ENSP00000514693.1:p.Tyr318Cys", "hgvsWellDefined": "ENSP00000514693.1:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910800" }, { "coordinates": [ { "allele": "G", "end": 886, "referenceAllele": "A", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699929.1:c.*254A>G" ], "proteinEffect": { "hgvs": "ENSP00000514694.1:n.*254A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910801" }, { "coordinates": [ { "allele": "G", "end": 925, "referenceAllele": "A", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699930.1:c.845A>G" ], "proteinEffect": { "hgvs": "ENSP00000514695.1:p.Tyr282Cys", "hgvsWellDefined": "ENSP00000514695.1:p.Tyr282Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS910802" }, { "coordinates": [ { "allele": "G", "end": 2381, "referenceAllele": "A", "start": 2380 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699931.1:n.2381A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910803" }, { "coordinates": [ { "allele": "G", "end": 933, "referenceAllele": "A", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699932.1:c.*49A>G" ], "proteinEffect": { "hgvs": "ENSP00000514696.1:n.*49A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910804" }, { "coordinates": [ { "allele": "G", "end": 933, "referenceAllele": "A", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699933.1:n.933A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS910805" }, { "coordinates": [ { "allele": "G", "end": 933, "referenceAllele": "A", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699951.1:c.*49A>G" ], "proteinEffect": { "hgvs": "ENSP00000514706.1:n.*49A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910822" }, { "coordinates": [ { "allele": "G", "end": 883, "endIntronDirection": "+", "endIntronOffset": 5318, "referenceAllele": "A", "start": 883, "startIntronDirection": "+", "startIntronOffset": 5317 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699952.1:c.803+5318A>G" ], "proteinEffect": { "hgvs": "ENSP00000514707.1:n.803+5318A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910823" }, { "coordinates": [ { "allele": "G", "end": 935, "referenceAllele": "A", "start": 934 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699953.1:c.*60A>G" ], "proteinEffect": { "hgvs": "ENSP00000514708.1:n.*60A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910824" }, { "coordinates": [ { "allele": "G", "end": 883, "referenceAllele": "A", "start": 882 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000699954.1:c.*254A>G" ], "proteinEffect": { "hgvs": "ENSP00000514709.1:n.*254A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS910825" }, { "coordinates": [ { "allele": "G", "end": 983, "referenceAllele": "A", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000265849.12:c.953A>G" ], "proteinEffect": { "hgvs": "ENSP00000265849.7:p.Tyr318Cys", "hgvsWellDefined": "ENSP00000265849.7:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS742894", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265849.12:c.953A>G" }, "RefSeq": { "hgvs": "NM_000535.7:c.953A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265849.7:p.Tyr318Cys" }, "RefSeq": { "hgvs": "NP_000526.2:p.Tyr318Cys" } } } }, { "coordinates": [ { "allele": "G", "end": 891, "referenceAllele": "A", "start": 890 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000642292.1:c.548A>G" ], "proteinEffect": { "hgvs": "ENSP00000495524.1:p.Tyr183Cys", "hgvsWellDefined": "ENSP00000495524.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS766664" }, { "coordinates": [ { "allele": "G", "end": 1004, "referenceAllele": "A", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000642456.1:c.548A>G" ], "proteinEffect": { "hgvs": "ENSP00000493814.1:p.Tyr183Cys", "hgvsWellDefined": "ENSP00000493814.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS766755" }, { "coordinates": [ { "allele": "G", "end": 926, "referenceAllele": "A", "start": 925 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000643595.1:c.*352A>G" ], "proteinEffect": { "hgvs": "ENSP00000494497.1:n.*352A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767363" }, { "coordinates": [ { "allele": "G", "end": 635, "referenceAllele": "A", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000644110.1:c.635A>G" ], "proteinEffect": { "hgvs": "ENSP00000496392.1:p.Tyr212Cys", "hgvsWellDefined": "ENSP00000496392.1:p.Tyr212Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS767638" }, { "coordinates": [ { "allele": "G", "end": 1059, "referenceAllele": "A", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000265849.11:c.953A>G" ], "proteinEffect": { "hgvs": "ENSP00000265849.7:p.Tyr318Cys", "hgvsWellDefined": "ENSP00000265849.7:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS246729" }, { "coordinates": [ { "allele": "G", "end": 803, "endIntronDirection": "+", "endIntronOffset": 5318, "referenceAllele": "A", "start": 803, "startIntronDirection": "+", "startIntronOffset": 5317 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000382321.5:c.803+5318A>G" ], "proteinEffect": { "hgvs": "ENSP00000371758.4:n.803+5318A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247172" }, { "coordinates": [ { "allele": "G", "end": 953, "referenceAllele": "A", "start": 952 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000406569.7:n.953A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS280678" }, { "coordinates": [ { "allele": "G", "end": 937, "referenceAllele": "A", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000441476.6:c.635A>G" ], "proteinEffect": { "hgvs": "ENSP00000392843.2:p.Tyr212Cys", "hgvsWellDefined": "ENSP00000392843.2:p.Tyr212Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247356" }, { "coordinates": [ { "allele": "G", "end": 62, "endIntronDirection": "-", "endIntronOffset": 9102, "referenceAllele": "A", "start": 62, "startIntronDirection": "-", "startIntronOffset": 9103 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "ENST00000469652.1:n.63-9103A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS312285" }, { "@id": "http://reg.genome.network/allele/PA215792", "coordinates": [ { "allele": "G", "end": 1040, "referenceAllele": "A", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.5:c.953A>G", "LRG_161t1:c.953A>G" ], "proteinEffect": { "hgvs": "NP_000526.1:p.Tyr318Cys", "hgvsWellDefined": "NP_000526.1:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006593" }, { "coordinates": [ { "allele": "G", "end": 1035, "referenceAllele": "A", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NR_003085.2:n.1035A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS046147" }, { "coordinates": [ { "allele": "G", "end": 990, "referenceAllele": "A", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_006715742.2:c.947A>G" ], "proteinEffect": { "hgvs": "XP_006715805.1:p.Tyr316Cys", "hgvsWellDefined": "XP_006715805.1:p.Tyr316Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071329" }, { "coordinates": [ { "allele": "G", "end": 116, "referenceAllele": "A", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_006715744.2:c.20A>G" ], "proteinEffect": { "hgvs": "XP_006715807.1:p.Tyr7Cys", "hgvsWellDefined": "XP_006715807.1:p.Tyr7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS071330" }, { "coordinates": [ { "allele": "G", "end": 1013, "referenceAllele": "A", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515427.1:c.998A>G" ], "proteinEffect": { "hgvs": "XP_011513729.1:p.Tyr333Cys", "hgvsWellDefined": "XP_011513729.1:p.Tyr333Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS082647" }, { "coordinates": [ { "allele": "G", "end": 1013, "referenceAllele": "A", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515428.1:c.998A>G" ], "proteinEffect": { "hgvs": "XP_011513730.1:p.Tyr333Cys", "hgvsWellDefined": "XP_011513730.1:p.Tyr333Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS082648" }, { "coordinates": [ { "allele": "G", "end": 937, "referenceAllele": "A", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515429.1:c.635A>G" ], "proteinEffect": { "hgvs": "XP_011513731.1:p.Tyr212Cys", "hgvsWellDefined": "XP_011513731.1:p.Tyr212Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS082649" }, { "coordinates": [ { "allele": "G", "end": 911, "referenceAllele": "A", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_011515430.1:c.635A>G" ], "proteinEffect": { "hgvs": "XP_011513732.1:p.Tyr212Cys", "hgvsWellDefined": "XP_011513732.1:p.Tyr212Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS082650" }, { "@id": "http://reg.genome.network/allele/PA891864446", "coordinates": [ { "allele": "G", "end": 1040, "referenceAllele": "A", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.6:c.953A>G" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Tyr318Cys", "hgvsWellDefined": "NP_000526.2:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS510810" }, { "@id": "http://reg.genome.network/allele/PA2827098466", "coordinates": [ { "allele": "G", "end": 1035, "referenceAllele": "A", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.1:c.548A>G" ], "proteinEffect": { "hgvs": "NP_001308932.1:p.Tyr183Cys", "hgvsWellDefined": "NP_001308932.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514675" }, { "@id": "http://reg.genome.network/allele/PA2827104852", "coordinates": [ { "allele": "G", "end": 900, "referenceAllele": "A", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.1:c.548A>G" ], "proteinEffect": { "hgvs": "NP_001308933.1:p.Tyr183Cys", "hgvsWellDefined": "NP_001308933.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514676" }, { "@id": "http://reg.genome.network/allele/PA2827111804", "coordinates": [ { "allele": "G", "end": 1152, "referenceAllele": "A", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.1:c.548A>G" ], "proteinEffect": { "hgvs": "NP_001308934.1:p.Tyr183Cys", "hgvsWellDefined": "NP_001308934.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514677" }, { "@id": "http://reg.genome.network/allele/PA2827115173", "coordinates": [ { "allele": "G", "end": 1040, "referenceAllele": "A", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.1:c.953A>G" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Tyr318Cys", "hgvsWellDefined": "NP_001308935.1:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514678" }, { "@id": "http://reg.genome.network/allele/PA2827117909", "coordinates": [ { "allele": "G", "end": 937, "referenceAllele": "A", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.1:c.635A>G" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Tyr212Cys", "hgvsWellDefined": "NP_001308936.1:p.Tyr212Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514679" }, { "@id": "http://reg.genome.network/allele/PA2827122056", "coordinates": [ { "allele": "G", "end": 797, "referenceAllele": "A", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.1:c.635A>G" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Tyr212Cys", "hgvsWellDefined": "NP_001308937.1:p.Tyr212Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514680" }, { "@id": "http://reg.genome.network/allele/PA2827123012", "coordinates": [ { "allele": "G", "end": 1147, "referenceAllele": "A", "start": 1146 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.1:c.548A>G" ], "proteinEffect": { "hgvs": "NP_001308938.1:p.Tyr183Cys", "hgvsWellDefined": "NP_001308938.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514681" }, { "@id": "http://reg.genome.network/allele/PA2827126414", "coordinates": [ { "allele": "G", "end": 900, "referenceAllele": "A", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.1:c.548A>G" ], "proteinEffect": { "hgvs": "NP_001308939.1:p.Tyr183Cys", "hgvsWellDefined": "NP_001308939.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514682" }, { "@id": "http://reg.genome.network/allele/PA2827128330", "coordinates": [ { "allele": "G", "end": 991, "referenceAllele": "A", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.1:c.20A>G" ], "proteinEffect": { "hgvs": "NP_001308940.1:p.Tyr7Cys", "hgvsWellDefined": "NP_001308940.1:p.Tyr7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514683" }, { "@id": "http://reg.genome.network/allele/PA916025246", "coordinates": [ { "allele": "G", "end": 986, "referenceAllele": "A", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.1:c.20A>G" ], "proteinEffect": { "hgvs": "NP_001308941.1:p.Tyr7Cys", "hgvsWellDefined": "NP_001308941.1:p.Tyr7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514684" }, { "@id": "http://reg.genome.network/allele/PA2827132669", "coordinates": [ { "allele": "G", "end": 867, "referenceAllele": "A", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.1:c.380A>G" ], "proteinEffect": { "hgvs": "NP_001308942.1:p.Tyr127Cys", "hgvsWellDefined": "NP_001308942.1:p.Tyr127Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514685" }, { "@id": "http://reg.genome.network/allele/PA2827135699", "coordinates": [ { "allele": "G", "end": 1040, "referenceAllele": "A", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.1:c.953A>G" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Tyr318Cys", "hgvsWellDefined": "NP_001308943.1:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514686" }, { "@id": "http://reg.genome.network/allele/PA2827137459", "coordinates": [ { "allele": "G", "end": 1210, "referenceAllele": "A", "start": 1209 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.1:c.644A>G" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Tyr215Cys", "hgvsWellDefined": "NP_001308944.1:p.Tyr215Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS514687" }, { "coordinates": [ { "allele": "G", "end": 1040, "referenceAllele": "A", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NR_136154.1:n.1040A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS528598" }, { "coordinates": [ { "allele": "G", "end": 116, "referenceAllele": "A", "start": 115 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_006715744.4:c.20A>G" ], "proteinEffect": { "hgvs": "XP_006715807.1:p.Tyr7Cys", "hgvsWellDefined": "XP_006715807.1:p.Tyr7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS539015" }, { "coordinates": [ { "allele": "G", "end": 865, "referenceAllele": "A", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_017012342.2:c.20A>G" ], "proteinEffect": { "hgvs": "XP_016867831.1:p.Tyr7Cys", "hgvsWellDefined": "XP_016867831.1:p.Tyr7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS565972" }, { "coordinates": [ { "allele": "G", "end": 1025, "referenceAllele": "A", "start": 1024 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "XM_024446800.1:c.548A>G" ], "proteinEffect": { "hgvs": "XP_024302568.1:p.Tyr183Cys", "hgvsWellDefined": "XP_024302568.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS580450" }, { "@id": "http://reg.genome.network/allele/PA891864446", "coordinates": [ { "allele": "G", "end": 983, "referenceAllele": "A", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_000535.7:c.953A>G" ], "proteinEffect": { "hgvs": "NP_000526.2:p.Tyr318Cys", "hgvsWellDefined": "NP_000526.2:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS662478", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000265849.12:c.953A>G" }, "RefSeq": { "hgvs": "NM_000535.7:c.953A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000265849.7:p.Tyr318Cys" }, "RefSeq": { "hgvs": "NP_000526.2:p.Tyr318Cys" } } } }, { "@id": "http://reg.genome.network/allele/PA2827098466", "coordinates": [ { "allele": "G", "end": 978, "referenceAllele": "A", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322003.2:c.548A>G" ], "proteinEffect": { "hgvs": "NP_001308932.1:p.Tyr183Cys", "hgvsWellDefined": "NP_001308932.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685612" }, { "@id": "http://reg.genome.network/allele/PA2827104852", "coordinates": [ { "allele": "G", "end": 843, "referenceAllele": "A", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322004.2:c.548A>G" ], "proteinEffect": { "hgvs": "NP_001308933.1:p.Tyr183Cys", "hgvsWellDefined": "NP_001308933.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685613" }, { "@id": "http://reg.genome.network/allele/PA2827111804", "coordinates": [ { "allele": "G", "end": 1173, "referenceAllele": "A", "start": 1172 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322005.2:c.548A>G" ], "proteinEffect": { "hgvs": "NP_001308934.1:p.Tyr183Cys", "hgvsWellDefined": "NP_001308934.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685614" }, { "@id": "http://reg.genome.network/allele/PA2827115173", "coordinates": [ { "allele": "G", "end": 983, "referenceAllele": "A", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322006.2:c.953A>G" ], "proteinEffect": { "hgvs": "NP_001308935.1:p.Tyr318Cys", "hgvsWellDefined": "NP_001308935.1:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685615" }, { "@id": "http://reg.genome.network/allele/PA2827122056", "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "A", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322008.2:c.635A>G" ], "proteinEffect": { "hgvs": "NP_001308937.1:p.Tyr212Cys", "hgvsWellDefined": "NP_001308937.1:p.Tyr212Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685616" }, { "@id": "http://reg.genome.network/allele/PA2827123012", "coordinates": [ { "allele": "G", "end": 1168, "referenceAllele": "A", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322009.2:c.548A>G" ], "proteinEffect": { "hgvs": "NP_001308938.1:p.Tyr183Cys", "hgvsWellDefined": "NP_001308938.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685617" }, { "@id": "http://reg.genome.network/allele/PA2827126414", "coordinates": [ { "allele": "G", "end": 843, "referenceAllele": "A", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322010.2:c.548A>G" ], "proteinEffect": { "hgvs": "NP_001308939.1:p.Tyr183Cys", "hgvsWellDefined": "NP_001308939.1:p.Tyr183Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685618" }, { "@id": "http://reg.genome.network/allele/PA2827128330", "coordinates": [ { "allele": "G", "end": 934, "referenceAllele": "A", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322011.2:c.20A>G" ], "proteinEffect": { "hgvs": "NP_001308940.1:p.Tyr7Cys", "hgvsWellDefined": "NP_001308940.1:p.Tyr7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685619" }, { "@id": "http://reg.genome.network/allele/PA916025246", "coordinates": [ { "allele": "G", "end": 929, "referenceAllele": "A", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322012.2:c.20A>G" ], "proteinEffect": { "hgvs": "NP_001308941.1:p.Tyr7Cys", "hgvsWellDefined": "NP_001308941.1:p.Tyr7Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685620" }, { "@id": "http://reg.genome.network/allele/PA2827132669", "coordinates": [ { "allele": "G", "end": 810, "referenceAllele": "A", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322013.2:c.380A>G" ], "proteinEffect": { "hgvs": "NP_001308942.1:p.Tyr127Cys", "hgvsWellDefined": "NP_001308942.1:p.Tyr127Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685621" }, { "@id": "http://reg.genome.network/allele/PA2827135699", "coordinates": [ { "allele": "G", "end": 983, "referenceAllele": "A", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322014.2:c.953A>G" ], "proteinEffect": { "hgvs": "NP_001308943.1:p.Tyr318Cys", "hgvsWellDefined": "NP_001308943.1:p.Tyr318Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685622" }, { "@id": "http://reg.genome.network/allele/PA2827137459", "coordinates": [ { "allele": "G", "end": 1153, "referenceAllele": "A", "start": 1152 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322015.2:c.644A>G" ], "proteinEffect": { "hgvs": "NP_001308944.1:p.Tyr215Cys", "hgvsWellDefined": "NP_001308944.1:p.Tyr215Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS685623" }, { "@id": "http://reg.genome.network/allele/PA2827117909", "coordinates": [ { "allele": "G", "end": 880, "referenceAllele": "A", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN009122", "geneNCBI_id": 5395, "geneSymbol": "PMS2", "hgvs": [ "NM_001322007.2:c.635A>G" ], "proteinEffect": { "hgvs": "NP_001308936.1:p.Tyr212Cys", "hgvsWellDefined": "NP_001308936.1:p.Tyr212Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS718053" } ], "type": "nucleotide" }