{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA290399",
  "communityStandardTitle": [
    "NM_000393.5(COL5A2):c.4114-11T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=140659[alleleid]",
        "alleleId": 140659,
        "preferredName": "NM_000393.5(COL5A2):c.4114-11T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/136956",
        "RCV": [
          "RCV000124515",
          "RCV001139302",
          "RCV002055504"
        ],
        "variationId": 136956
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-189899892-A-G",
        "id": "2-189899892-A-G",
        "variant": "2:189899892 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189899892A>G?assembly=hg19",
        "id": "chr2:g.189899892A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.189035166A>G?assembly=hg38",
        "id": "chr2:g.189035166A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587780908",
        "rs": 587780908
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-189899892-A-G?dataset=gnomad_r2_1",
        "id": "2-189899892-A-G",
        "variant": "2:189899892 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-189035166-A-G?dataset=gnomad_r3",
        "id": "2-189035166-A-G",
        "variant": "2:189035166 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-189035166-A-G?dataset=gnomad_r4",
        "id": "2-189035166-A-G",
        "variant": "2:189035166 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189035166,
          "referenceAllele": "A",
          "start": 189035165
        }
      ],
      "hgvs": [
        "NC_000002.12:g.189035166A>G",
        "CM000664.2:g.189035166A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189899892,
          "referenceAllele": "A",
          "start": 189899891
        }
      ],
      "hgvs": [
        "NC_000002.11:g.189899892A>G",
        "CM000664.1:g.189899892A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 189608137,
          "referenceAllele": "A",
          "start": 189608136
        }
      ],
      "hgvs": [
        "NC_000002.10:g.189608137A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 149714,
          "referenceAllele": "T",
          "start": 149713
        }
      ],
      "hgvs": [
        "NG_011799.1:g.149714T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 149714,
          "referenceAllele": "T",
          "start": 149713
        }
      ],
      "hgvs": [
        "NG_011799.2:g.149714T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 195136,
          "referenceAllele": "T",
          "start": 195135
        }
      ],
      "hgvs": [
        "NG_011799.3:g.195136T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706104"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4270,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 4270,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000374866.9:c.4114-11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364000.3:n.4114-11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751513",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374866.9:c.4114-11T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000393.5:c.4114-11T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364000.3:n.4114-11T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000384.2:n.4114-11T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4388,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 4388,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000374866.7:c.4114-11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364000.3:n.4114-11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270455"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3857,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 3857,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "ENST00000618828.1:c.2953-11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482184.1:n.2953-11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4388,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 4388,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.3:c.4114-11T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000384.2:n.4114-11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4183,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 4183,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "XM_011510573.1:c.3976-11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508875.1:n.3976-11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4388,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 4388,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.4:c.4114-11T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000384.2:n.4114-11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4170,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 4170,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "XM_011510573.3:c.3976-11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508875.1:n.3976-11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541779"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4270,
          "endIntronDirection": "-",
          "endIntronOffset": 10,
          "referenceAllele": "T",
          "start": 4270,
          "startIntronDirection": "-",
          "startIntronOffset": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NM_000393.5:c.4114-11T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000384.2:n.4114-11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662424",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374866.9:c.4114-11T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000393.5:c.4114-11T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364000.3:n.4114-11T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000384.2:n.4114-11T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}