{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2135804822",
  "communityStandardTitle": [
    "NM_002408.4(MGAT2):c.869C= (p.Ser290=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894446",
        "rs": 104894446
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 49622137,
          "referenceAllele": "C",
          "start": 49622136
        }
      ],
      "hgvs": [
        "NC_000014.9:g.49622137C=",
        "CM000676.2:g.49622137C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 50088855,
          "referenceAllele": "C",
          "start": 50088854
        }
      ],
      "hgvs": [
        "NC_000014.8:g.50088855C=",
        "CM000676.1:g.50088855C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 49158605,
          "referenceAllele": "C",
          "start": 49158604
        }
      ],
      "hgvs": [
        "NC_000014.7:g.49158605C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6367,
          "referenceAllele": "C",
          "start": 6366
        }
      ],
      "hgvs": [
        "NG_008920.1:g.6367C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001298"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3495,
          "referenceAllele": "G",
          "start": 3494
        }
      ],
      "hgvs": [
        "NG_033054.1:g.3495G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005386"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1339,
          "referenceAllele": "C",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007045",
      "geneNCBI_id": 4247,
      "geneSymbol": "MGAT2",
      "hgvs": [
        "ENST00000305386.4:c.869C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307423.2:p.Ser290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745194",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305386.4:c.869C="
          },
          "RefSeq": {
            "hgvs": "NM_002408.4:c.869C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307423.2:p.Ser290="
          },
          "RefSeq": {
            "hgvs": "NP_002399.1:p.Ser290="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007045",
      "geneNCBI_id": 4247,
      "geneSymbol": "MGAT2",
      "hgvs": [
        "ENST00000305386.3:c.869C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307423.2:p.Ser290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081107953",
      "coordinates": [
        {
          "allele": "C",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007045",
      "geneNCBI_id": 4247,
      "geneSymbol": "MGAT2",
      "hgvs": [
        "NM_002408.3:c.869C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002399.1:p.Ser290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027713"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3081107953",
      "coordinates": [
        {
          "allele": "C",
          "end": 1339,
          "referenceAllele": "C",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007045",
      "geneNCBI_id": 4247,
      "geneSymbol": "MGAT2",
      "hgvs": [
        "NM_002408.4:c.869C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002399.1:p.Ser290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305386.4:c.869C="
          },
          "RefSeq": {
            "hgvs": "NM_002408.4:c.869C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307423.2:p.Ser290="
          },
          "RefSeq": {
            "hgvs": "NP_002399.1:p.Ser290="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}