{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA254038",
  "communityStandardTitle": [
    "NM_002408.4(MGAT2):c.952A>G (p.Asn318Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22030[alleleid]",
        "alleleId": 22030,
        "preferredName": "NM_002408.4(MGAT2):c.952A>G (p.Asn318Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6991",
        "RCV": [
          "RCV000007407"
        ],
        "variationId": 6991
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.50088938A>G?assembly=hg19",
        "id": "chr14:g.50088938A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.49622220A>G?assembly=hg38",
        "id": "chr14:g.49622220A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894448",
        "rs": 104894448
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 49622220,
          "referenceAllele": "A",
          "start": 49622219
        }
      ],
      "hgvs": [
        "NC_000014.9:g.49622220A>G",
        "CM000676.2:g.49622220A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 50088938,
          "referenceAllele": "A",
          "start": 50088937
        }
      ],
      "hgvs": [
        "NC_000014.8:g.50088938A>G",
        "CM000676.1:g.50088938A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "G",
          "end": 49158688,
          "referenceAllele": "A",
          "start": 49158687
        }
      ],
      "hgvs": [
        "NC_000014.7:g.49158688A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6450,
          "referenceAllele": "A",
          "start": 6449
        }
      ],
      "hgvs": [
        "NG_008920.1:g.6450A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3412,
          "referenceAllele": "T",
          "start": 3411
        }
      ],
      "hgvs": [
        "NG_033054.1:g.3412T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005386"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1422,
          "referenceAllele": "A",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007045",
      "geneNCBI_id": 4247,
      "geneSymbol": "MGAT2",
      "hgvs": [
        "ENST00000305386.4:c.952A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307423.2:p.Asn318Asp",
        "hgvsWellDefined": "ENSP00000307423.2:p.Asn318Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745194",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305386.4:c.952A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002408.4:c.952A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307423.2:p.Asn318Asp"
          },
          "RefSeq": {
            "hgvs": "NP_002399.1:p.Asn318Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1426,
          "referenceAllele": "A",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007045",
      "geneNCBI_id": 4247,
      "geneSymbol": "MGAT2",
      "hgvs": [
        "ENST00000305386.3:c.952A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307423.2:p.Asn318Asp",
        "hgvsWellDefined": "ENSP00000307423.2:p.Asn318Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255584"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105210",
      "coordinates": [
        {
          "allele": "G",
          "end": 1450,
          "referenceAllele": "A",
          "start": 1449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007045",
      "geneNCBI_id": 4247,
      "geneSymbol": "MGAT2",
      "hgvs": [
        "NM_002408.3:c.952A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002399.1:p.Asn318Asp",
        "hgvsWellDefined": "NP_002399.1:p.Asn318Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027713"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105210",
      "coordinates": [
        {
          "allele": "G",
          "end": 1422,
          "referenceAllele": "A",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007045",
      "geneNCBI_id": 4247,
      "geneSymbol": "MGAT2",
      "hgvs": [
        "NM_002408.4:c.952A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002399.1:p.Asn318Asp",
        "hgvsWellDefined": "NP_002399.1:p.Asn318Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695540",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305386.4:c.952A>G"
          },
          "RefSeq": {
            "hgvs": "NM_002408.4:c.952A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307423.2:p.Asn318Asp"
          },
          "RefSeq": {
            "hgvs": "NP_002399.1:p.Asn318Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}