{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6254496",
  "communityStandardTitle": [
    "NM_001377.3(DYNC2H1):c.8661A>G (p.Lys2887=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1533588[alleleid]",
        "alleleId": 1533588,
        "preferredName": "NM_001377.3(DYNC2H1):c.8661A>G (p.Lys2887=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1579630",
        "RCV": [
          "RCV002094609",
          "RCV003951008"
        ],
        "variationId": 1579630
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-103082639-A-G",
        "id": "11-103082639-A-G",
        "variant": "11:103082639 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.103082639A>G?assembly=hg19",
        "id": "chr11:g.103082639A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.103211910A>G?assembly=hg38",
        "id": "chr11:g.103211910A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376184114",
        "rs": 376184114
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-103082639-A-G?dataset=gnomad_r2_1",
        "id": "11-103082639-A-G",
        "variant": "11:103082639 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-103211910-A-G?dataset=gnomad_r3",
        "id": "11-103211910-A-G",
        "variant": "11:103211910 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-103211910-A-G?dataset=gnomad_r4",
        "id": "11-103211910-A-G",
        "variant": "11:103211910 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 103211910,
          "referenceAllele": "A",
          "start": 103211909
        }
      ],
      "hgvs": [
        "NC_000011.10:g.103211910A>G",
        "CM000673.2:g.103211910A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 103082639,
          "referenceAllele": "A",
          "start": 103082638
        }
      ],
      "hgvs": [
        "NC_000011.9:g.103082639A>G",
        "CM000673.1:g.103082639A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "G",
          "end": 102587849,
          "referenceAllele": "A",
          "start": 102587848
        }
      ],
      "hgvs": [
        "NC_000011.8:g.102587849A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107480,
          "referenceAllele": "A",
          "start": 107479
        }
      ],
      "hgvs": [
        "NG_016423.1:g.107480A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 107480,
          "referenceAllele": "A",
          "start": 107479
        }
      ],
      "hgvs": [
        "NG_016423.2:g.107480A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673679"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8810,
          "referenceAllele": "A",
          "start": 8809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "ENST00000650373.2:c.8661A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497174.1:p.Lys2887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650373.2:c.8661A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001080463.2:c.8661A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497174.1:p.Lys2887="
          },
          "RefSeq": {
            "hgvs": "NP_001073932.1:p.Lys2887="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8810,
          "referenceAllele": "A",
          "start": 8809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "ENST00000375735.7:c.8661A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364887.2:p.Lys2887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751657",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375735.7:c.8661A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001377.3:c.8661A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364887.2:p.Lys2887="
          },
          "RefSeq": {
            "hgvs": "NP_001368.2:p.Lys2887="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8674,
          "referenceAllele": "A",
          "start": 8673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "ENST00000650373.1:c.8661A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497174.1:p.Lys2887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2258,
          "endIntronDirection": "+",
          "endIntronOffset": 77491,
          "referenceAllele": "A",
          "start": 2258,
          "startIntronDirection": "+",
          "startIntronOffset": 77490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "ENST00000334267.11:c.2205+77491A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334021.7:n.2205+77491A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259871"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8805,
          "referenceAllele": "A",
          "start": 8804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "ENST00000375735.6:c.8661A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364887.2:p.Lys2887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8661,
          "referenceAllele": "A",
          "start": 8660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "ENST00000398093.7:c.8661A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381167.3:p.Lys2887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 261,
          "referenceAllele": "A",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "ENST00000533027.1:n.261A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357856"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825469379",
      "coordinates": [
        {
          "allele": "G",
          "end": 8805,
          "referenceAllele": "A",
          "start": 8804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "NM_001080463.1:c.8661A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073932.1:p.Lys2887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828846009",
      "coordinates": [
        {
          "allele": "G",
          "end": 8805,
          "referenceAllele": "A",
          "start": 8804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "NM_001377.2:c.8661A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001368.2:p.Lys2887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8784,
          "referenceAllele": "A",
          "start": 8783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "XM_006718903.2:c.8640A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718966.1:p.Lys2880="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8805,
          "referenceAllele": "A",
          "start": 8804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "XM_017018291.1:c.8661A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873780.1:p.Lys2887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8059,
          "referenceAllele": "A",
          "start": 8058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "XM_017018292.1:c.8043A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873781.1:p.Lys2681="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828846009",
      "coordinates": [
        {
          "allele": "G",
          "end": 8810,
          "referenceAllele": "A",
          "start": 8809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "NM_001377.3:c.8661A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001368.2:p.Lys2887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664959",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375735.7:c.8661A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001377.3:c.8661A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364887.2:p.Lys2887="
          },
          "RefSeq": {
            "hgvs": "NP_001368.2:p.Lys2887="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825469379",
      "coordinates": [
        {
          "allele": "G",
          "end": 8810,
          "referenceAllele": "A",
          "start": 8809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002962",
      "geneNCBI_id": 79659,
      "geneSymbol": "DYNC2H1",
      "hgvs": [
        "NM_001080463.2:c.8661A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073932.1:p.Lys2887="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676262",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650373.2:c.8661A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001080463.2:c.8661A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497174.1:p.Lys2887="
          },
          "RefSeq": {
            "hgvs": "NP_001073932.1:p.Lys2887="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}