{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4347649",
  "communityStandardTitle": [
    "NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265335[alleleid]",
        "alleleId": 265335,
        "preferredName": "NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281098",
        "RCV": [
          "RCV000723559",
          "RCV000764736",
          "RCV001162767",
          "RCV001162768",
          "RCV002229738",
          "RCV002278258",
          "RCV002446511"
        ],
        "variationId": 281098
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-94055784-C-A",
        "id": "7-94055784-C-A",
        "variant": "7:94055784 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94055784C>A?assembly=hg19",
        "id": "chr7:g.94055784C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94426472C>A?assembly=hg38",
        "id": "chr7:g.94426472C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/377278762",
        "rs": 377278762
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94055784-C-A?dataset=gnomad_r2_1",
        "id": "7-94055784-C-A",
        "variant": "7:94055784 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94426472-C-A?dataset=gnomad_r3",
        "id": "7-94426472-C-A",
        "variant": "7:94426472 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-94426472-C-A?dataset=gnomad_r4",
        "id": "7-94426472-C-A",
        "variant": "7:94426472 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 94426472,
          "referenceAllele": "C",
          "start": 94426471
        }
      ],
      "hgvs": [
        "NC_000007.14:g.94426472C>A",
        "CM000669.2:g.94426472C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 94055784,
          "referenceAllele": "C",
          "start": 94055783
        }
      ],
      "hgvs": [
        "NC_000007.13:g.94055784C>A",
        "CM000669.1:g.94055784C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 93893720,
          "referenceAllele": "C",
          "start": 93893719
        }
      ],
      "hgvs": [
        "NC_000007.12:g.93893720C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36912,
          "referenceAllele": "C",
          "start": 36911
        }
      ],
      "hgvs": [
        "NG_007405.1:g.36912C>A",
        "LRG_2:g.36912C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3184,
          "referenceAllele": "C",
          "start": 3183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.11:c.3047C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Pro1016His",
        "hgvsWellDefined": "ENSP00000297268.6:p.Pro1016His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744510",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.3047C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.3047C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Pro1016His"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Pro1016His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3518,
          "referenceAllele": "C",
          "start": 3517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.10:c.3047C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:p.Pro1016His",
        "hgvsWellDefined": "ENSP00000297268.6:p.Pro1016His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 606,
          "referenceAllele": "C",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000478215.1:n.606C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3020,
          "referenceAllele": "C",
          "start": 3019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000481570.5:n.3020C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3159,
          "referenceAllele": "C",
          "start": 3158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000620463.1:c.3041C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477719.1:p.Pro1014His",
        "hgvsWellDefined": "ENSP00000477719.1:p.Pro1014His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645454110",
      "coordinates": [
        {
          "allele": "A",
          "end": 3518,
          "referenceAllele": "C",
          "start": 3517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.3:c.3047C>A",
        "LRG_2t1:c.3047C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Pro1016His",
        "hgvsWellDefined": "NP_000080.2:p.Pro1016His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645454110",
      "coordinates": [
        {
          "allele": "A",
          "end": 3184,
          "referenceAllele": "C",
          "start": 3183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.4:c.3047C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:p.Pro1016His",
        "hgvsWellDefined": "NP_000080.2:p.Pro1016His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674696",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.3047C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.3047C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:p.Pro1016His"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:p.Pro1016His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}