{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8052021",
  "communityStandardTitle": [
    "NM_001370466.1(NOD2):c.2828A>G (p.Glu943Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1479084[alleleid]",
        "alleleId": 1479084,
        "preferredName": "NM_001370466.1(NOD2):c.2828A>G (p.Glu943Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1349073",
        "RCV": [
          "RCV002545368",
          "RCV003426217"
        ],
        "variationId": 1349073
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-50759426-A-G",
        "id": "16-50759426-A-G",
        "variant": "16:50759426 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.50759426A>G?assembly=hg19",
        "id": "chr16:g.50759426A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.50725515A>G?assembly=hg38",
        "id": "chr16:g.50725515A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/371389581",
        "rs": 371389581
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50759426-A-G?dataset=gnomad_r2_1",
        "id": "16-50759426-A-G",
        "variant": "16:50759426 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50725515-A-G?dataset=gnomad_r3",
        "id": "16-50725515-A-G",
        "variant": "16:50725515 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-50725515-A-G?dataset=gnomad_r4",
        "id": "16-50725515-A-G",
        "variant": "16:50725515 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 50725515,
          "referenceAllele": "A",
          "start": 50725514
        }
      ],
      "hgvs": [
        "NC_000016.10:g.50725515A>G",
        "CM000678.2:g.50725515A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 50759426,
          "referenceAllele": "A",
          "start": 50759425
        }
      ],
      "hgvs": [
        "NC_000016.9:g.50759426A>G",
        "CM000678.1:g.50759426A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 49316927,
          "referenceAllele": "A",
          "start": 49316926
        }
      ],
      "hgvs": [
        "NC_000016.8:g.49316927A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33377,
          "referenceAllele": "A",
          "start": 33376
        }
      ],
      "hgvs": [
        "NG_007508.1:g.33377A>G",
        "LRG_177:g.33377A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000628"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2440,
          "endIntronDirection": "-",
          "endIntronOffset": 4302,
          "referenceAllele": "A",
          "start": 2440,
          "startIntronDirection": "-",
          "startIntronOffset": 4303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000641284.2:c.2382-4303A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493088.1:n.2382-4303A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906395"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3058,
          "referenceAllele": "A",
          "start": 3057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000646677.2:c.*593A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496533.1:n.*593A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2306,
          "referenceAllele": "A",
          "start": 2305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000697428.1:n.2306A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908781"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2440,
          "endIntronDirection": "-",
          "endIntronOffset": 4302,
          "referenceAllele": "A",
          "start": 2440,
          "startIntronDirection": "-",
          "startIntronOffset": 4303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000641284.1:c.2382-4303A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493088.1:n.2382-4303A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765979"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3058,
          "referenceAllele": "A",
          "start": 3057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000646677.1:c.*593A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496533.1:n.*593A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2893,
          "referenceAllele": "A",
          "start": 2892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000647318.2:c.2828A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495993.1:p.Glu943Gly",
        "hgvsWellDefined": "ENSP00000495993.1:p.Glu943Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769349",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647318.2:c.2828A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001370466.1:c.2828A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495993.1:p.Glu943Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001357395.1:p.Glu943Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3014,
          "referenceAllele": "A",
          "start": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "ENST00000300589.6:c.2909A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000300589.2:p.Glu970Gly",
        "hgvsWellDefined": "ENSP00000300589.2:p.Glu970Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254893"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826835929",
      "coordinates": [
        {
          "allele": "G",
          "end": 2974,
          "referenceAllele": "A",
          "start": 2973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001293557.1:c.2828A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280486.1:p.Glu943Gly",
        "hgvsWellDefined": "NP_001280486.1:p.Glu943Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024535"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573278807",
      "coordinates": [
        {
          "allele": "G",
          "end": 3014,
          "referenceAllele": "A",
          "start": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_022162.2:c.2909A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071445.1:p.Glu970Gly",
        "hgvsWellDefined": "NP_071445.1:p.Glu970Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2918,
          "referenceAllele": "A",
          "start": 2917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_005256084.2:c.2828A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256141.1:p.Glu943Gly",
        "hgvsWellDefined": "XP_005256141.1:p.Glu943Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2834,
          "referenceAllele": "A",
          "start": 2833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721242.2:c.2744A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721305.1:p.Glu915Gly",
        "hgvsWellDefined": "XP_006721305.1:p.Glu915Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2531,
          "referenceAllele": "A",
          "start": 2530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523257.1:c.2405A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521559.1:p.Glu802Gly",
        "hgvsWellDefined": "XP_011521559.1:p.Glu802Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090396"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2512,
          "referenceAllele": "A",
          "start": 2511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523258.1:c.2405A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521560.1:p.Glu802Gly",
        "hgvsWellDefined": "XP_011521560.1:p.Glu802Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2730,
          "referenceAllele": "A",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523259.1:c.2243A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521561.1:p.Glu748Gly",
        "hgvsWellDefined": "XP_011521561.1:p.Glu748Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090398"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2871,
          "referenceAllele": "A",
          "start": 2870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_005256084.4:c.2828A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256141.1:p.Glu943Gly",
        "hgvsWellDefined": "XP_005256141.1:p.Glu943Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534384"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2787,
          "referenceAllele": "A",
          "start": 2786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_006721242.4:c.2744A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721305.1:p.Glu915Gly",
        "hgvsWellDefined": "XP_006721305.1:p.Glu915Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2730,
          "referenceAllele": "A",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_011523259.2:c.2243A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521561.1:p.Glu748Gly",
        "hgvsWellDefined": "XP_011521561.1:p.Glu748Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4288,
          "referenceAllele": "A",
          "start": 4287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023535.1:c.2336A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879024.1:p.Glu779Gly",
        "hgvsWellDefined": "XP_016879024.1:p.Glu779Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574279"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2445,
          "referenceAllele": "A",
          "start": 2444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023536.1:c.2243A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879025.1:p.Glu748Gly",
        "hgvsWellDefined": "XP_016879025.1:p.Glu748Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574280"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2339,
          "referenceAllele": "A",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023537.1:c.2243A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879026.1:p.Glu748Gly",
        "hgvsWellDefined": "XP_016879026.1:p.Glu748Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574281"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2440,
          "referenceAllele": "A",
          "start": 2439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "XM_017023538.1:c.2243A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879027.1:p.Glu748Gly",
        "hgvsWellDefined": "XP_016879027.1:p.Glu748Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574282"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826835929",
      "coordinates": [
        {
          "allele": "G",
          "end": 2944,
          "referenceAllele": "A",
          "start": 2943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001293557.2:c.2828A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280486.1:p.Glu943Gly",
        "hgvsWellDefined": "NP_001280486.1:p.Glu943Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828433252",
      "coordinates": [
        {
          "allele": "G",
          "end": 2893,
          "referenceAllele": "A",
          "start": 2892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_001370466.1:c.2828A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357395.1:p.Glu943Gly",
        "hgvsWellDefined": "NP_001357395.1:p.Glu943Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647318.2:c.2828A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001370466.1:c.2828A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495993.1:p.Glu943Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001357395.1:p.Glu943Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573278807",
      "coordinates": [
        {
          "allele": "G",
          "end": 3205,
          "referenceAllele": "A",
          "start": 3204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NM_022162.3:c.2909A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071445.1:p.Glu970Gly",
        "hgvsWellDefined": "NP_071445.1:p.Glu970Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3040,
          "referenceAllele": "A",
          "start": 3039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005331",
      "geneNCBI_id": 64127,
      "geneSymbol": "NOD2",
      "hgvs": [
        "NR_163434.1:n.3040A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705559"
    }
  ],
  "type": "nucleotide"
}