{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA015138",
  "communityStandardTitle": [
    "NM_000179.3(MSH6):c.4001+2T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=94975[alleleid]",
        "alleleId": 94975,
        "preferredName": "NM_000179.3(MSH6):c.4001+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89501",
        "RCV": [
          "RCV000074969",
          "RCV000491060",
          "RCV000812440",
          "RCV002267832",
          "RCV003450986"
        ],
        "variationId": 89501
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.48033792T>C?assembly=hg19",
        "id": "chr2:g.48033792T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47806653T>C?assembly=hg38",
        "id": "chr2:g.47806653T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267608131",
        "rs": 267608131
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-47806653-T-C?dataset=gnomad_r4",
        "id": "2-47806653-T-C",
        "variant": "2:47806653 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 47806653,
          "referenceAllele": "T",
          "start": 47806652
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47806653T>C",
        "CM000664.2:g.47806653T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 48033792,
          "referenceAllele": "T",
          "start": 48033791
        }
      ],
      "hgvs": [
        "NC_000002.11:g.48033792T>C",
        "CM000664.1:g.48033792T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 47887296,
          "referenceAllele": "T",
          "start": 47887295
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47887296T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 28507,
          "referenceAllele": "T",
          "start": 28506
        }
      ],
      "hgvs": [
        "NG_007111.1:g.28507T>C",
        "LRG_219:g.28507T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000487"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 104023,
          "referenceAllele": "A",
          "start": 104022
        }
      ],
      "hgvs": [
        "NG_008397.1:g.104023A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001078"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3799,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3799,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000411819.2:c.3704+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406248.2:n.3704+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3931,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3931,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000420813.6:c.3704+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390382.2:n.3704+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3935,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3935,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000455383.6:c.3704+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000397484.2:n.3704+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914094"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3701,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3701,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.2:c.3617+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.2:n.3617+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914477"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4675,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4675,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000699999.1:n.4675+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2518,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2518,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700000.1:c.2435+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514749.1:n.2435+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4079,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4079,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700002.1:c.4007+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514750.1:n.4007+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1456,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1456,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700003.1:c.1456+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514751.1:n.1456+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2774,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2774,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700004.1:c.2774+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514752.1:n.2774+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910875"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2854,
          "referenceAllele": "T",
          "start": 2853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700005.1:n.2854T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910876"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5161,
          "referenceAllele": "T",
          "start": 5160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700006.1:n.5161T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2596,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2596,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700007.1:n.2596+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2263,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2263,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700008.1:n.2263+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910879"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2665,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2665,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700009.1:n.2665+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910880"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1410,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1410,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700010.1:n.1410+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3295,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3295,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000700011.1:n.3295+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910882"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4095,
          "referenceAllele": "A",
          "start": 4094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000682451.1:n.4095A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4357,
          "referenceAllele": "A",
          "start": 4356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000684712.1:n.4357A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829663"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4090,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4090,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.11:c.4001+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.5:n.4001+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.4001+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.4001+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:n.4001+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:n.4001+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3662,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3662,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.6:c.3611+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:n.3611+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759617"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4384,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4384,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000652107.1:c.3704+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498629.1:n.3704+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3822,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3822,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000673637.1:c.3704+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501310.1:n.3704+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4153,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4153,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000234420.9:c.4001+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000234420.4:n.4001+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247309"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 1542,
          "referenceAllele": "A",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000405808.5:c.169+1542A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385127.1:n.169+1542A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 1341,
          "referenceAllele": "A",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013590",
      "geneNCBI_id": 80204,
      "geneSymbol": "FBXO11",
      "hgvs": [
        "ENST00000434234.5:c.*124+1341A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402692.1:n.*124+1341A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292930"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3983,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3983,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000445503.5:c.*3348+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405294.1:n.*3348+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3888,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3888,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000538136.1:c.3095+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438580.1:n.3095+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3763,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3763,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000540021.5:c.3611+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446475.1:n.3611+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247186"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3983,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3983,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000614496.4:c.3095+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477844.1:n.3095+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402225"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4150,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4150,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "ENST00000622629.4:c.902+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482078.1:n.902+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405814"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4153,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4153,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.2:c.4001+2T>C",
        "LRG_219t1:c.4001+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:n.4001+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006241"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3763,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3763,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.1:c.3611+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:n.3611+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021654"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3983,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3983,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.1:c.3095+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:n.3095+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021655"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3888,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3888,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.1:c.3095+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:n.3095+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021656"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3799,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3799,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_005264271.1:c.3704+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264328.1:n.3704+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3860,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3860,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532798.1:c.3818+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531100.1:n.3818+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099824"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3935,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3935,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532799.1:c.3704+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531101.1:n.3704+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3816,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3816,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_011532800.1:c.3704+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531102.1:n.3704+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099826"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4183,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4183,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452819.1:c.4094+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308587.1:n.4094+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3953,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3953,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452820.1:c.3911+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308588.1:n.3911+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586210"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4028,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4028,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452821.1:c.3797+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308589.1:n.3797+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586211"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3980,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3980,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "XM_024452822.1:c.3188+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308590.1:n.3188+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4090,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4090,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_000179.3:c.4001+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000170.1:n.4001+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234420.11:c.4001+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000179.3:c.4001+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234420.5:n.4001+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000170.1:n.4001+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3700,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3700,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281492.2:c.3611+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268421.1:n.3611+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3920,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3920,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281493.2:c.3095+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268422.1:n.3095+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3888,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3888,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007329",
      "geneNCBI_id": 2956,
      "geneSymbol": "MSH6",
      "hgvs": [
        "NM_001281494.2:c.3095+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268423.1:n.3095+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715704"
    }
  ],
  "type": "nucleotide"
}