{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1635825",
  "communityStandardTitle": [
    "NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=440070[alleleid]",
        "alleleId": 440070,
        "preferredName": "NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/446696",
        "RCV": [
          "RCV000516090"
        ],
        "variationId": 446696
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-44021669-C-A",
        "id": "2-44021669-C-A",
        "variant": "2:44021669 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.44021669C>A?assembly=hg19",
        "id": "chr2:g.44021669C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.43794530C>A?assembly=hg38",
        "id": "chr2:g.43794530C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/76483206",
        "rs": 76483206
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-44021669-C-A?dataset=gnomad_r2_1",
        "id": "2-44021669-C-A",
        "variant": "2:44021669 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43794530-C-A?dataset=gnomad_r4",
        "id": "2-43794530-C-A",
        "variant": "2:43794530 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 43794530,
          "referenceAllele": "C",
          "start": 43794529
        }
      ],
      "hgvs": [
        "NC_000002.12:g.43794530C>A",
        "CM000664.2:g.43794530C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 44021669,
          "referenceAllele": "C",
          "start": 44021668
        }
      ],
      "hgvs": [
        "NC_000002.11:g.44021669C>A",
        "CM000664.1:g.44021669C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 43875173,
          "referenceAllele": "C",
          "start": 43875172
        }
      ],
      "hgvs": [
        "NC_000002.10:g.43875173C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25492,
          "referenceAllele": "C",
          "start": 25491
        }
      ],
      "hgvs": [
        "NG_053008.1:g.25492C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617315"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "ENST00000260605.12:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000260605.8:p.Gln132Lys",
        "hgvsWellDefined": "ENSP00000260605.8:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250615",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260605.12:c.394C>A"
          },
          "RefSeq": {
            "hgvs": "NM_016008.4:c.394C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260605.8:p.Gln132Lys"
          },
          "RefSeq": {
            "hgvs": "NP_057092.2:p.Gln132Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 345,
          "referenceAllele": "C",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "ENST00000378587.3:c.345C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS272100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2250,
          "referenceAllele": "C",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "ENST00000398823.6:c.*1740C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381804.2:n.*1740C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "ENST00000406852.7:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385738.3:p.Gln132Lys",
        "hgvsWellDefined": "ENSP00000385738.3:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "ENST00000462426.1:c.*246C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428082.1:n.*246C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306687"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "ENST00000479242.5:c.*105C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430525.1:n.*105C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319669"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "ENST00000489222.6:n.350C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 451,
          "referenceAllele": "C",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "ENST00000605786.5:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474032.1:p.Gln132Lys",
        "hgvsWellDefined": "ENSP00000474032.1:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399575"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826184772",
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001193464.1:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180393.1:p.Gln132Lys",
        "hgvsWellDefined": "NP_001180393.1:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829830096",
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_015522.3:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056337.1:p.Gln132Lys",
        "hgvsWellDefined": "NP_056337.1:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034081"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658679159",
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_016008.3:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057092.2:p.Gln132Lys",
        "hgvsWellDefined": "NP_057092.2:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "XM_005264364.3:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264421.1:p.Gln132Lys",
        "hgvsWellDefined": "XP_005264421.1:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "C",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "XM_005264365.3:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264422.1:p.Gln132Lys",
        "hgvsWellDefined": "XP_005264422.1:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064185"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827458333",
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348912.1:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335841.1:p.Gln132Lys",
        "hgvsWellDefined": "NP_001335841.1:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518358"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827458423",
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348913.1:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335842.1:p.Gln132Lys",
        "hgvsWellDefined": "NP_001335842.1:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658679159",
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_016008.4:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057092.2:p.Gln132Lys",
        "hgvsWellDefined": "NP_057092.2:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668937",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000260605.12:c.394C>A"
          },
          "RefSeq": {
            "hgvs": "NM_016008.4:c.394C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000260605.8:p.Gln132Lys"
          },
          "RefSeq": {
            "hgvs": "NP_057092.2:p.Gln132Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826184772",
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001193464.2:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180393.1:p.Gln132Lys",
        "hgvsWellDefined": "NP_001180393.1:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827458333",
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348912.2:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335841.1:p.Gln132Lys",
        "hgvsWellDefined": "NP_001335841.1:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719198"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827458423",
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_001348913.2:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001335842.1:p.Gln132Lys",
        "hgvsWellDefined": "NP_001335842.1:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719199"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829830096",
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "C",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024595",
      "geneNCBI_id": 51626,
      "geneSymbol": "DYNC2LI1",
      "hgvs": [
        "NM_015522.4:c.394C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056337.1:p.Gln132Lys",
        "hgvsWellDefined": "NP_056337.1:p.Gln132Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728086"
    }
  ],
  "type": "nucleotide"
}