{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA150280",
  "communityStandardTitle": [
    "NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103748[alleleid]",
        "alleleId": 103748,
        "preferredName": "NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97856",
        "RCV": [
          "RCV000280478",
          "RCV000336827",
          "RCV001781424",
          "RCV002260984",
          "RCV002513883"
        ],
        "variationId": 97856
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-50750810-A-G",
        "id": "16-50750810-A-G",
        "variant": "16:50750810 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.50750810A>G?assembly=hg19",
        "id": "chr16:g.50750810A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.50716899A>G?assembly=hg38",
        "id": "chr16:g.50716899A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104895467",
        "rs": 104895467
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50750810-A-G?dataset=gnomad_r2_1",
        "id": "16-50750810-A-G",
        "variant": "16:50750810 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50716899-A-G?dataset=gnomad_r3",
        "id": "16-50716899-A-G",
        "variant": "16:50716899 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50716899-A-G?dataset=gnomad_r4",
        "id": "16-50716899-A-G",
        "variant": "16:50716899 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 50716899,
          "referenceAllele": "A",
          "start": 50716898
        }
      ],
      "hgvs": [
        "NC_000016.10:g.50716899A>G",
        "CM000678.2:g.50716899A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 50750810,
          "referenceAllele": "A",
          "start": 50750809
        }
      ],
      "hgvs": [
        "NC_000016.9:g.50750810A>G",
        "CM000678.1:g.50750810A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 49308311,
          "referenceAllele": "A",
          "start": 49308310
        }
      ],
      "hgvs": [
        "NC_000016.8:g.49308311A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 24761,
          "referenceAllele": "A",
          "start": 24760
        }
      ],
      "hgvs": [
        "NG_007508.1:g.24761A>G",
        "LRG_177:g.24761A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000628"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2440,
          "endIntronDirection": "+",
          "endIntronOffset": 4526,
          "referenceAllele": "A",
          "start": 2440,
          "startIntronDirection": "+",
          "startIntronOffset": 4525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000641284.2:c.2381+4526A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493088.1:n.2381+4526A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2704,
          "referenceAllele": "A",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000646677.2:c.*239A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496533.1:n.*239A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 301,
          "referenceAllele": "A",
          "start": 300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000697425.1:c.301A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 273,
          "referenceAllele": "A",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000697426.1:c.273A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908779"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 180,
          "endIntronDirection": "-",
          "endIntronOffset": 3025,
          "referenceAllele": "A",
          "start": 180,
          "startIntronDirection": "-",
          "startIntronOffset": 3026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000697427.1:c.181-3026A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908780"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1952,
          "referenceAllele": "A",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000697428.1:n.1952A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2440,
          "endIntronDirection": "+",
          "endIntronOffset": 4526,
          "referenceAllele": "A",
          "start": 2440,
          "startIntronDirection": "+",
          "startIntronOffset": 4525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000641284.1:c.2381+4526A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493088.1:n.2381+4526A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765979"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2704,
          "referenceAllele": "A",
          "start": 2703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000646677.1:c.*239A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496533.1:n.*239A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2539,
          "referenceAllele": "A",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000647318.2:c.2474A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495993.1:p.Asn825Ser",
        "hgvsWellDefined": "ENSP00000495993.1:p.Asn825Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769349",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647318.2:c.2474A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001370466.1:c.2474A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495993.1:p.Asn825Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001357395.1:p.Asn825Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2660,
          "referenceAllele": "A",
          "start": 2659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000300589.6:c.2555A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300589.2:p.Asn852Ser",
        "hgvsWellDefined": "ENSP00000300589.2:p.Asn852Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 208,
          "endIntronDirection": "+",
          "endIntronOffset": 4498,
          "referenceAllele": "A",
          "start": 208,
          "startIntronDirection": "+",
          "startIntronOffset": 4497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000524712.5:c.208+4498A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 4526,
          "referenceAllele": "A",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 4525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000527052.5:c.180+4526A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 208,
          "endIntronDirection": "-",
          "endIntronOffset": 3025,
          "referenceAllele": "A",
          "start": 208,
          "startIntronDirection": "-",
          "startIntronOffset": 3026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000529633.5:c.209-3026A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 264,
          "endIntronDirection": "+",
          "endIntronOffset": 229,
          "referenceAllele": "A",
          "start": 264,
          "startIntronDirection": "+",
          "startIntronOffset": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000534057.1:c.264+229A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 444,
          "endIntronDirection": "+",
          "endIntronOffset": 4262,
          "referenceAllele": "A",
          "start": 444,
          "startIntronDirection": "+",
          "startIntronOffset": 4261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000534067.5:c.444+4262A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358737"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826835845",
      "coordinates": [
        {
          "allele": "G",
          "end": 2620,
          "referenceAllele": "A",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001293557.1:c.2474A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280486.1:p.Asn825Ser",
        "hgvsWellDefined": "NP_001280486.1:p.Asn825Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA150282",
      "coordinates": [
        {
          "allele": "G",
          "end": 2660,
          "referenceAllele": "A",
          "start": 2659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_022162.2:c.2555A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071445.1:p.Asn852Ser",
        "hgvsWellDefined": "NP_071445.1:p.Asn852Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2564,
          "referenceAllele": "A",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_005256084.2:c.2474A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256141.1:p.Asn825Ser",
        "hgvsWellDefined": "XP_005256141.1:p.Asn825Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2564,
          "referenceAllele": "A",
          "start": 2563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721242.2:c.2474A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721305.1:p.Asn825Ser",
        "hgvsWellDefined": "XP_006721305.1:p.Asn825Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2177,
          "referenceAllele": "A",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523257.1:c.2051A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521559.1:p.Asn684Ser",
        "hgvsWellDefined": "XP_011521559.1:p.Asn684Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2158,
          "referenceAllele": "A",
          "start": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523258.1:c.2051A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521560.1:p.Asn684Ser",
        "hgvsWellDefined": "XP_011521560.1:p.Asn684Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2376,
          "referenceAllele": "A",
          "start": 2375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523259.1:c.1889A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521561.1:p.Asn630Ser",
        "hgvsWellDefined": "XP_011521561.1:p.Asn630Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2471,
          "endIntronDirection": "-",
          "endIntronOffset": 3025,
          "referenceAllele": "A",
          "start": 2471,
          "startIntronDirection": "-",
          "startIntronOffset": 3026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429725.2:n.2472-3026A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2471,
          "endIntronDirection": "+",
          "endIntronOffset": 4526,
          "referenceAllele": "A",
          "start": 2471,
          "startIntronDirection": "+",
          "startIntronOffset": 4525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429726.2:n.2471+4526A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118469"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2592,
          "referenceAllele": "A",
          "start": 2591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_933387.1:n.2592A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128979"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2517,
          "referenceAllele": "A",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_005256084.4:c.2474A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256141.1:p.Asn825Ser",
        "hgvsWellDefined": "XP_005256141.1:p.Asn825Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2517,
          "referenceAllele": "A",
          "start": 2516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721242.4:c.2474A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721305.1:p.Asn825Ser",
        "hgvsWellDefined": "XP_006721305.1:p.Asn825Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2376,
          "referenceAllele": "A",
          "start": 2375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523259.2:c.1889A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521561.1:p.Asn630Ser",
        "hgvsWellDefined": "XP_011521561.1:p.Asn630Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3934,
          "referenceAllele": "A",
          "start": 3933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023535.1:c.1982A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879024.1:p.Asn661Ser",
        "hgvsWellDefined": "XP_016879024.1:p.Asn661Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574279"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2091,
          "referenceAllele": "A",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023536.1:c.1889A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879025.1:p.Asn630Ser",
        "hgvsWellDefined": "XP_016879025.1:p.Asn630Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1985,
          "referenceAllele": "A",
          "start": 1984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023537.1:c.1889A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879026.1:p.Asn630Ser",
        "hgvsWellDefined": "XP_016879026.1:p.Asn630Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574281"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2086,
          "referenceAllele": "A",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023538.1:c.1889A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879027.1:p.Asn630Ser",
        "hgvsWellDefined": "XP_016879027.1:p.Asn630Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574282"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2424,
          "endIntronDirection": "-",
          "endIntronOffset": 3025,
          "referenceAllele": "A",
          "start": 2424,
          "startIntronDirection": "-",
          "startIntronOffset": 3026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429725.3:n.2425-3026A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2424,
          "endIntronDirection": "+",
          "endIntronOffset": 4526,
          "referenceAllele": "A",
          "start": 2424,
          "startIntronDirection": "+",
          "startIntronOffset": 4525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429726.3:n.2424+4526A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2545,
          "referenceAllele": "A",
          "start": 2544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_933387.2:n.2545A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610414"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826835845",
      "coordinates": [
        {
          "allele": "G",
          "end": 2590,
          "referenceAllele": "A",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001293557.2:c.2474A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280486.1:p.Asn825Ser",
        "hgvsWellDefined": "NP_001280486.1:p.Asn825Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828433168",
      "coordinates": [
        {
          "allele": "G",
          "end": 2539,
          "referenceAllele": "A",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001370466.1:c.2474A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357395.1:p.Asn825Ser",
        "hgvsWellDefined": "NP_001357395.1:p.Asn825Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647318.2:c.2474A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001370466.1:c.2474A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495993.1:p.Asn825Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001357395.1:p.Asn825Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA150282",
      "coordinates": [
        {
          "allele": "G",
          "end": 2851,
          "referenceAllele": "A",
          "start": 2850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_022162.3:c.2555A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071445.1:p.Asn852Ser",
        "hgvsWellDefined": "NP_071445.1:p.Asn852Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2686,
          "referenceAllele": "A",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NR_163434.1:n.2686A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705559"
    }
  ],
  "type": "nucleotide"
}