{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1139908968",
  "communityStandardTitle": [
    "NM_001460.5(FMO2):c.1239T= (p.Asn413=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2020865",
        "rs": 2020865
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 171207773,
          "referenceAllele": "T",
          "start": 171207772
        }
      ],
      "hgvs": [
        "NC_000001.11:g.171207773T=",
        "CM000663.2:g.171207773T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 171176912,
          "referenceAllele": "T",
          "start": 171176911
        }
      ],
      "hgvs": [
        "NC_000001.10:g.171176912T=",
        "CM000663.1:g.171176912T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 169443536,
          "referenceAllele": "T",
          "start": 169443535
        }
      ],
      "hgvs": [
        "NC_000001.9:g.169443536T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1305,
          "referenceAllele": "T",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "ENST00000209929.10:c.1239T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000209929.8:p.Asn413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740197",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000209929.10:c.1239T="
          },
          "RefSeq": {
            "hgvs": "NM_001460.5:c.1239T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000209929.8:p.Asn413="
          },
          "RefSeq": {
            "hgvs": "NP_001451.2:p.Asn413="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "T",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "ENST00000209929.9:c.1239T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000209929.8:p.Asn413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "referenceAllele": "T",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "ENST00000488431.1:n.231T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1024,
          "referenceAllele": "T",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "ENST00000529935.5:c.1024T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487002.1:n.1024T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1116,
          "referenceAllele": "T",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "NM_001301347.1:c.579T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288276.1:p.Asn193="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025191"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063876463",
      "coordinates": [
        {
          "allele": "T",
          "end": 1397,
          "referenceAllele": "T",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "NM_001460.4:c.1239T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001451.2:p.Asn413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1356,
          "referenceAllele": "T",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "XR_426768.2:n.1356T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1356,
          "referenceAllele": "T",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "XR_921761.1:n.1356T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 507,
          "endIntronDirection": "-",
          "endIntronOffset": 39584,
          "referenceAllele": "A",
          "start": 507,
          "startIntronDirection": "-",
          "startIntronOffset": 39585
        }
      ],
      "hgvs": [
        "XR_922278.1:n.508-39585A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS119340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "T",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "NM_001365900.1:c.1044T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352829.1:p.Asn348="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "T",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "NR_158622.1:n.1259T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS532143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "T",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "XR_001737072.2:n.1306T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "endIntronDirection": "-",
          "endIntronOffset": 39584,
          "referenceAllele": "A",
          "start": 1306,
          "startIntronDirection": "-",
          "startIntronOffset": 39585
        }
      ],
      "hgvs": [
        "XR_001738291.2:n.1307-39585A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "T",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "XR_921761.3:n.1306T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1306,
          "endIntronDirection": "-",
          "endIntronOffset": 39584,
          "referenceAllele": "A",
          "start": 1306,
          "startIntronDirection": "-",
          "startIntronOffset": 39585
        }
      ],
      "hgvs": [
        "XR_922278.3:n.1307-39585A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606988"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063876463",
      "coordinates": [
        {
          "allele": "T",
          "end": 1305,
          "referenceAllele": "T",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "NM_001460.5:c.1239T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001451.2:p.Asn413="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665001",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000209929.10:c.1239T="
          },
          "RefSeq": {
            "hgvs": "NM_001460.5:c.1239T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000209929.8:p.Asn413="
          },
          "RefSeq": {
            "hgvs": "NP_001451.2:p.Asn413="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1167,
          "referenceAllele": "T",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "NR_160266.1:n.1167T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1024,
          "referenceAllele": "T",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003770",
      "geneNCBI_id": 2327,
      "geneSymbol": "FMO2",
      "hgvs": [
        "NM_001301347.2:c.579T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001288276.1:p.Asn193="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683404"
    }
  ],
  "type": "nucleotide"
}