{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA495778873",
  "communityStandardTitle": [
    "NM_001370466.1(NOD2):c.1462C>T (p.Leu488=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1125279[alleleid]",
        "alleleId": 1125279,
        "preferredName": "NM_001370466.1(NOD2):c.1462C>T (p.Leu488=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1134828",
        "RCV": [
          "RCV002261366",
          "RCV002561306"
        ],
        "variationId": 1134828
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.50745365C>T?assembly=hg19",
        "id": "chr16:g.50745365C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.50711454C>T?assembly=hg38",
        "id": "chr16:g.50711454C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1318205250",
        "rs": 1318205250
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50745365-C-T?dataset=gnomad_r2_1",
        "id": "16-50745365-C-T",
        "variant": "16:50745365 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50711454-C-T?dataset=gnomad_r4",
        "id": "16-50711454-C-T",
        "variant": "16:50711454 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 50711454,
          "referenceAllele": "C",
          "start": 50711453
        }
      ],
      "hgvs": [
        "NC_000016.10:g.50711454C>T",
        "CM000678.2:g.50711454C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 50745365,
          "referenceAllele": "C",
          "start": 50745364
        }
      ],
      "hgvs": [
        "NC_000016.9:g.50745365C>T",
        "CM000678.1:g.50745365C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 49302866,
          "referenceAllele": "C",
          "start": 49302865
        }
      ],
      "hgvs": [
        "NC_000016.8:g.49302866C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19316,
          "referenceAllele": "C",
          "start": 19315
        }
      ],
      "hgvs": [
        "NG_007508.1:g.19316C>T",
        "LRG_177:g.19316C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000628"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1521,
          "referenceAllele": "C",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000641284.2:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493088.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000646677.2:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496533.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1521,
          "referenceAllele": "C",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000641284.1:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493088.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000646677.1:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496533.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000647318.2:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495993.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769349",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647318.2:c.1462C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370466.1:c.1462C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495993.1:p.Leu488="
          },
          "RefSeq": {
            "hgvs": "NP_001357395.1:p.Leu488="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "C",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000300589.6:c.1543C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300589.2:p.Leu515="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254893"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826835585",
      "coordinates": [
        {
          "allele": "T",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001293557.1:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280486.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829979422",
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "C",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_022162.2:c.1543C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071445.1:p.Leu515="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_005256084.2:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256141.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721242.2:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721305.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721243.2:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721306.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523257.1:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521559.1:p.Leu347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "C",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523258.1:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521560.1:p.Leu347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1364,
          "referenceAllele": "C",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523259.1:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521561.1:p.Leu293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523260.1:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521562.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523261.1:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521563.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429725.2:n.1552C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429726.2:n.1552C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_933387.1:n.1552C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_005256084.4:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256141.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721242.4:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721305.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721243.4:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721306.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1364,
          "referenceAllele": "C",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523259.2:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521561.1:p.Leu293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523260.3:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521562.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523261.2:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521563.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546960"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2922,
          "referenceAllele": "C",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023535.1:c.970C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879024.1:p.Leu324="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1079,
          "referenceAllele": "C",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023536.1:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879025.1:p.Leu293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023537.1:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879026.1:p.Leu293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023538.1:c.877C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879027.1:p.Leu293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429725.3:n.1505C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_429726.3:n.1505C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1505,
          "referenceAllele": "C",
          "start": 1504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XR_933387.2:n.1505C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610414"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826835585",
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "C",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001293557.2:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280486.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828432908",
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001370466.1:c.1462C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357395.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647318.2:c.1462C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370466.1:c.1462C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495993.1:p.Leu488="
          },
          "RefSeq": {
            "hgvs": "NP_001357395.1:p.Leu488="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829979422",
      "coordinates": [
        {
          "allele": "T",
          "end": 1839,
          "referenceAllele": "C",
          "start": 1838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_022162.3:c.1543C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071445.1:p.Leu515="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NR_163434.1:n.1527C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705559"
    }
  ],
  "type": "nucleotide"
}