{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8051522",
  "communityStandardTitle": [
    "NM_001370466.1(NOD2):c.1245C>T (p.Phe415=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=714960[alleleid]",
        "alleleId": 714960,
        "preferredName": "NM_001370466.1(NOD2):c.1245C>T (p.Phe415=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/786292",
        "RCV": [
          "RCV002547297",
          "RCV002264114",
          "RCV003424505"
        ],
        "variationId": 786292
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-50745148-C-T",
        "id": "16-50745148-C-T",
        "variant": "16:50745148 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.50745148C>T?assembly=hg19",
        "id": "chr16:g.50745148C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.50711237C>T?assembly=hg38",
        "id": "chr16:g.50711237C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151315883",
        "rs": 151315883
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50745148-C-T?dataset=gnomad_r2_1",
        "id": "16-50745148-C-T",
        "variant": "16:50745148 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50711237-C-T?dataset=gnomad_r3",
        "id": "16-50711237-C-T",
        "variant": "16:50711237 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50711237-C-T?dataset=gnomad_r4",
        "id": "16-50711237-C-T",
        "variant": "16:50711237 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 50711237,
          "referenceAllele": "C",
          "start": 50711236
        }
      ],
      "hgvs": [
        "NC_000016.10:g.50711237C>T",
        "CM000678.2:g.50711237C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 50745148,
          "referenceAllele": "C",
          "start": 50745147
        }
      ],
      "hgvs": [
        "NC_000016.9:g.50745148C>T",
        "CM000678.1:g.50745148C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 49302649,
          "referenceAllele": "C",
          "start": 49302648
        }
      ],
      "hgvs": [
        "NC_000016.8:g.49302649C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19099,
          "referenceAllele": "C",
          "start": 19098
        }
      ],
      "hgvs": [
        "NG_007508.1:g.19099C>T",
        "LRG_177:g.19099C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000628"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "referenceAllele": "C",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000641284.2:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493088.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1328,
          "referenceAllele": "C",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000646677.2:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496533.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "referenceAllele": "C",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000641284.1:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493088.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1328,
          "referenceAllele": "C",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000646677.1:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496533.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "referenceAllele": "C",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000647318.2:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495993.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769349",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647318.2:c.1245C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370466.1:c.1245C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495993.1:p.Phe415="
          },
          "RefSeq": {
            "hgvs": "NP_001357395.1:p.Phe415="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1431,
          "referenceAllele": "C",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000300589.6:c.1326C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300589.2:p.Phe442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254893"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826835514",
      "coordinates": [
        {
          "allele": "T",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001293557.1:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280486.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829979301",
      "coordinates": [
        {
          "allele": "T",
          "end": 1431,
          "referenceAllele": "C",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_022162.2:c.1326C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071445.1:p.Phe442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_005256084.2:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256141.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721242.2:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721305.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721243.2:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721306.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523257.1:c.822C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521559.1:p.Phe274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523258.1:c.822C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521560.1:p.Phe274="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1147,
          "referenceAllele": "C",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523259.1:c.660C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521561.1:p.Phe220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523260.1:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521562.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523261.1:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521563.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429725.2:n.1335C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429726.2:n.1335C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1335,
          "referenceAllele": "C",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_933387.1:n.1335C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_005256084.4:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256141.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721242.4:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721305.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721243.4:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721306.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1147,
          "referenceAllele": "C",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523259.2:c.660C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521561.1:p.Phe220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523260.3:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521562.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523261.2:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521563.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2705,
          "referenceAllele": "C",
          "start": 2704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023535.1:c.753C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879024.1:p.Phe251="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 862,
          "referenceAllele": "C",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023536.1:c.660C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879025.1:p.Phe220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023537.1:c.660C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879026.1:p.Phe220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 857,
          "referenceAllele": "C",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023538.1:c.660C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879027.1:p.Phe220="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429725.3:n.1288C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429726.3:n.1288C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_933387.2:n.1288C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610414"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826835514",
      "coordinates": [
        {
          "allele": "T",
          "end": 1361,
          "referenceAllele": "C",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001293557.2:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280486.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828432838",
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "referenceAllele": "C",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001370466.1:c.1245C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357395.1:p.Phe415="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647318.2:c.1245C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370466.1:c.1245C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495993.1:p.Phe415="
          },
          "RefSeq": {
            "hgvs": "NP_001357395.1:p.Phe415="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829979301",
      "coordinates": [
        {
          "allele": "T",
          "end": 1622,
          "referenceAllele": "C",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_022162.3:c.1326C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071445.1:p.Phe442="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "referenceAllele": "C",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NR_163434.1:n.1310C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705559"
    }
  ],
  "type": "nucleotide"
}