{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA162939788",
  "communityStandardTitle": [
    "NM_000089.4(COL1A2):c.2835+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=413963[alleleid]",
        "alleleId": 413963,
        "preferredName": "NM_000089.4(COL1A2):c.2835+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425653",
        "RCV": [
          "RCV000490660",
          "RCV000490726",
          "RCV002231121",
          "RCV003155210"
        ],
        "variationId": 425653
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94054976G>A?assembly=hg19",
        "id": "chr7:g.94054976G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.94425664G>A?assembly=hg38",
        "id": "chr7:g.94425664G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72659310",
        "rs": 72659310
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 94425664,
          "referenceAllele": "G",
          "start": 94425663
        }
      ],
      "hgvs": [
        "NC_000007.14:g.94425664G>A",
        "CM000669.2:g.94425664G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 94054976,
          "referenceAllele": "G",
          "start": 94054975
        }
      ],
      "hgvs": [
        "NC_000007.13:g.94054976G>A",
        "CM000669.1:g.94054976G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 93892912,
          "referenceAllele": "G",
          "start": 93892911
        }
      ],
      "hgvs": [
        "NC_000007.12:g.93892912G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36104,
          "referenceAllele": "G",
          "start": 36103
        }
      ],
      "hgvs": [
        "NG_007405.1:g.36104G>A",
        "LRG_2:g.36104G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000570"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2972,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2972,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.11:c.2835+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:n.2835+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744510",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.2835+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.2835+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:n.2835+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:n.2835+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3306,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3306,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000297268.10:c.2835+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000297268.6:n.2835+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254445"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 618,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 618,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000469732.1:n.618+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 394,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 394,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000478215.1:n.394+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2808,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2808,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000481570.5:n.2808+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2947,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2947,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "ENST00000620463.1:c.2829+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477719.1:n.2829+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404843"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3306,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3306,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.3:c.2835+1G>A",
        "LRG_2t1:c.2835+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:n.2835+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006153"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2972,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2972,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NM_000089.4:c.2835+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000080.2:n.2835+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674696",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000297268.11:c.2835+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000089.4:c.2835+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000297268.6:n.2835+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000080.2:n.2835+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}