{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4347093",
  "communityStandardTitle": [
    "NM_000089.4(COL1A2):c.1522G>A (p.Gly508Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=636460[alleleid]",
        "alleleId": 636460,
        "preferredName": "NM_000089.4(COL1A2):c.1522G>A (p.Gly508Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/661936",
        "RCV": [
          "RCV002235123",
          "RCV002275144"
        ],
        "variationId": 661936
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-94042413-G-A",
        "id": "7-94042413-G-A",
        "variant": "7:94042413 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94042413G>A?assembly=hg19",
        "id": "chr7:g.94042413G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94413101G>A?assembly=hg38",
        "id": "chr7:g.94413101G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769600024",
        "rs": 769600024
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94042413-G-A?dataset=gnomad_r2_1",
        "id": "7-94042413-G-A",
        "variant": "7:94042413 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94413101-G-A?dataset=gnomad_r3",
        "id": "7-94413101-G-A",
        "variant": "7:94413101 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94413101-G-A?dataset=gnomad_r4",
        "id": "7-94413101-G-A",
        "variant": "7:94413101 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 94413101,
          "referenceAllele": "G",
          "start": 94413100
        }
      ],
      "hgvs": [
        "NC_000007.14:g.94413101G>A",
        "CM000669.2:g.94413101G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 94042413,
          "referenceAllele": "G",
          "start": 94042412
        }
      ],
      "hgvs": [
        "NC_000007.13:g.94042413G>A",
        "CM000669.1:g.94042413G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 93880349,
          "referenceAllele": "G",
          "start": 93880348
        }
      ],
      "hgvs": [
        "NC_000007.12:g.93880349G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23541,
          "referenceAllele": "G",
          "start": 23540
        }
      ],
      "hgvs": [
        "NG_007405.1:g.23541G>A",
        "LRG_2:g.23541G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.11:c.1522G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Gly508Ser",
        "hgvsWellDefined": "ENSP00000297268.6:p.Gly508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744510",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.1522G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.1522G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Gly508Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Gly508Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1993,
          "referenceAllele": "G",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.10:c.1522G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Gly508Ser",
        "hgvsWellDefined": "ENSP00000297268.6:p.Gly508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1634,
          "referenceAllele": "G",
          "start": 1633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000620463.1:c.1516G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477719.1:p.Gly506Ser",
        "hgvsWellDefined": "ENSP00000477719.1:p.Gly506Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915955084",
      "coordinates": [
        {
          "allele": "A",
          "end": 1993,
          "referenceAllele": "G",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.3:c.1522G>A",
        "LRG_2t1:c.1522G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Gly508Ser",
        "hgvsWellDefined": "NP_000080.2:p.Gly508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915955084",
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.4:c.1522G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Gly508Ser",
        "hgvsWellDefined": "NP_000080.2:p.Gly508Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674696",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.1522G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.1522G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Gly508Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Gly508Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}