{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10643727",
  "communityStandardTitle": [
    "NM_001370466.1(NOD2):c.*89C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=335194[alleleid]",
        "alleleId": 335194,
        "preferredName": "NM_001370466.1(NOD2):c.*89C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/319476",
        "RCV": [
          "RCV000392805",
          "RCV001782837",
          "RCV003418000"
        ],
        "variationId": 319476
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.50765819C>T?assembly=hg19",
        "id": "chr16:g.50765819C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.50731908C>T?assembly=hg38",
        "id": "chr16:g.50731908C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/184545855",
        "rs": 184545855
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50765819-C-T?dataset=gnomad_r2_1",
        "id": "16-50765819-C-T",
        "variant": "16:50765819 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50731908-C-T?dataset=gnomad_r3",
        "id": "16-50731908-C-T",
        "variant": "16:50731908 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50731908-C-T?dataset=gnomad_r4",
        "id": "16-50731908-C-T",
        "variant": "16:50731908 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 50731908,
          "referenceAllele": "C",
          "start": 50731907
        }
      ],
      "hgvs": [
        "NC_000016.10:g.50731908C>T",
        "CM000678.2:g.50731908C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 50765819,
          "referenceAllele": "C",
          "start": 50765818
        }
      ],
      "hgvs": [
        "NC_000016.9:g.50765819C>T",
        "CM000678.1:g.50765819C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 49323320,
          "referenceAllele": "C",
          "start": 49323319
        }
      ],
      "hgvs": [
        "NC_000016.8:g.49323320C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39770,
          "referenceAllele": "C",
          "start": 39769
        }
      ],
      "hgvs": [
        "NG_007508.1:g.39770C>T",
        "LRG_177:g.39770C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000628"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2686,
          "referenceAllele": "C",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000641284.2:c.*245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493088.1:n.*245C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3361,
          "referenceAllele": "C",
          "start": 3360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000646677.2:c.*896C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496533.1:n.*896C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2609,
          "referenceAllele": "C",
          "start": 2608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000697428.1:n.2609C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2686,
          "referenceAllele": "C",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000641284.1:c.*245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493088.1:n.*245C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3361,
          "referenceAllele": "C",
          "start": 3360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000646677.1:c.*896C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496533.1:n.*896C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3196,
          "referenceAllele": "C",
          "start": 3195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000647318.2:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495993.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769349",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647318.2:c.*89C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370466.1:c.*89C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495993.1:n.*89C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001357395.1:n.*89C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3317,
          "referenceAllele": "C",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000300589.6:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300589.2:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3277,
          "referenceAllele": "C",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001293557.1:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280486.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3317,
          "referenceAllele": "C",
          "start": 3316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_022162.2:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071445.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3221,
          "referenceAllele": "C",
          "start": 3220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_005256084.2:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256141.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3137,
          "referenceAllele": "C",
          "start": 3136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721242.2:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721305.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2834,
          "referenceAllele": "C",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523257.1:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521559.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090396"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2815,
          "referenceAllele": "C",
          "start": 2814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523258.1:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521560.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3033,
          "referenceAllele": "C",
          "start": 3032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523259.1:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521561.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3174,
          "referenceAllele": "C",
          "start": 3173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_005256084.4:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256141.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3090,
          "referenceAllele": "C",
          "start": 3089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721242.4:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721305.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3033,
          "referenceAllele": "C",
          "start": 3032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523259.2:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521561.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4591,
          "referenceAllele": "C",
          "start": 4590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023535.1:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879024.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2748,
          "referenceAllele": "C",
          "start": 2747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023536.1:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879025.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574280"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2642,
          "referenceAllele": "C",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023537.1:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879026.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2743,
          "referenceAllele": "C",
          "start": 2742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023538.1:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879027.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574282"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3247,
          "referenceAllele": "C",
          "start": 3246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001293557.2:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280486.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3196,
          "referenceAllele": "C",
          "start": 3195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001370466.1:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357395.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647318.2:c.*89C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001370466.1:c.*89C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495993.1:n.*89C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001357395.1:n.*89C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3508,
          "referenceAllele": "C",
          "start": 3507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_022162.3:c.*89C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071445.1:n.*89C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3343,
          "referenceAllele": "C",
          "start": 3342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NR_163434.1:n.3343C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705559"
    }
  ],
  "type": "nucleotide"
}