{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA320624",
  "communityStandardTitle": [
    "NM_000393.5(COL5A2):c.322+1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209574[alleleid]",
        "alleleId": 209574,
        "preferredName": "NM_000393.5(COL5A2):c.322+1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213136",
        "RCV": [
          "RCV000196203",
          "RCV002444789",
          "RCV003758721"
        ],
        "variationId": 213136
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-189974950-C-G",
        "id": "2-189974950-C-G",
        "variant": "2:189974950 C / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189974950C>G?assembly=hg19",
        "id": "chr2:g.189974950C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189110224C>G?assembly=hg38",
        "id": "chr2:g.189110224C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770598613",
        "rs": 770598613
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-189974950-C-G?dataset=gnomad_r2_1",
        "id": "2-189974950-C-G",
        "variant": "2:189974950 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-189110224-C-G?dataset=gnomad_r3",
        "id": "2-189110224-C-G",
        "variant": "2:189110224 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-189110224-C-G?dataset=gnomad_r4",
        "id": "2-189110224-C-G",
        "variant": "2:189110224 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189110224,
          "referenceAllele": "C",
          "start": 189110223
        }
      ],
      "hgvs": [
        "NC_000002.12:g.189110224C>G",
        "CM000664.2:g.189110224C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189974950,
          "referenceAllele": "C",
          "start": 189974949
        }
      ],
      "hgvs": [
        "NC_000002.11:g.189974950C>G",
        "CM000664.1:g.189974950C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189683195,
          "referenceAllele": "C",
          "start": 189683194
        }
      ],
      "hgvs": [
        "NC_000002.10:g.189683195C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 74656,
          "referenceAllele": "G",
          "start": 74655
        }
      ],
      "hgvs": [
        "NG_011799.1:g.74656G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 74656,
          "referenceAllele": "G",
          "start": 74655
        }
      ],
      "hgvs": [
        "NG_011799.2:g.74656G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 120078,
          "referenceAllele": "G",
          "start": 120077
        }
      ],
      "hgvs": [
        "NG_011799.3:g.120078G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706104"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 479,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 479,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000374866.9:c.322+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364000.3:n.322+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751513",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374866.9:c.322+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000393.5:c.322+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364000.3:n.322+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000384.2:n.322+1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 390,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 390,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000649966.1:c.184+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496785.1:n.184+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770868"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 597,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 597,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000374866.7:c.322+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364000.3:n.322+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270455"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 597,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 597,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000618828.1:c.-309+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482184.1:n.-309+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 597,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 597,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.3:c.322+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000384.2:n.322+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 392,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 392,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "XM_011510573.1:c.184+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508875.1:n.184+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 597,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 597,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.4:c.322+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000384.2:n.322+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 379,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "XM_011510573.3:c.184+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508875.1:n.184+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 479,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 479,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.5:c.322+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000384.2:n.322+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374866.9:c.322+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000393.5:c.322+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364000.3:n.322+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000384.2:n.322+1G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}