{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4035091",
  "communityStandardTitle": [
    "NM_005670.4(EPM2A):c.743C>T (p.Ala248Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=395686[alleleid]",
        "alleleId": 395686,
        "preferredName": "NM_005670.4(EPM2A):c.743C>T (p.Ala248Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/411297",
        "RCV": [
          "RCV000518301",
          "RCV000781972",
          "RCV000473835",
          "RCV000727516",
          "RCV002383827"
        ],
        "variationId": 411297
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/6-145948805-G-A",
        "id": "6-145948805-G-A",
        "variant": "6:145948805 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.145948805G>A?assembly=hg19",
        "id": "chr6:g.145948805G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.145627669G>A?assembly=hg38",
        "id": "chr6:g.145627669G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374043005",
        "rs": 374043005
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-145948805-G-A?dataset=gnomad_r2_1",
        "id": "6-145948805-G-A",
        "variant": "6:145948805 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-145627669-G-A?dataset=gnomad_r3",
        "id": "6-145627669-G-A",
        "variant": "6:145627669 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-145627669-G-A?dataset=gnomad_r4",
        "id": "6-145627669-G-A",
        "variant": "6:145627669 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 145627669,
          "referenceAllele": "G",
          "start": 145627668
        }
      ],
      "hgvs": [
        "NC_000006.12:g.145627669G>A",
        "CM000668.2:g.145627669G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 145948805,
          "referenceAllele": "G",
          "start": 145948804
        }
      ],
      "hgvs": [
        "NC_000006.11:g.145948805G>A",
        "CM000668.1:g.145948805G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 145990498,
          "referenceAllele": "G",
          "start": 145990497
        }
      ],
      "hgvs": [
        "NC_000006.10:g.145990498G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113187,
          "referenceAllele": "C",
          "start": 113186
        }
      ],
      "hgvs": [
        "NG_012832.1:g.113187C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113187,
          "referenceAllele": "C",
          "start": 113186
        }
      ],
      "hgvs": [
        "NG_012832.2:g.113187C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673615"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000367519.9:c.743C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356489.3:p.Ala248Val",
        "hgvsWellDefined": "ENSP00000356489.3:p.Ala248Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750031",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367519.9:c.743C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005670.4:c.743C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356489.3:p.Ala248Val"
          },
          "RefSeq": {
            "hgvs": "NP_005661.1:p.Ala248Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000435470.2:c.743C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405913.2:p.Ala248Val",
        "hgvsWellDefined": "ENSP00000405913.2:p.Ala248Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 340,
          "endIntronDirection": "+",
          "endIntronOffset": 7576,
          "referenceAllele": "C",
          "start": 340,
          "startIntronDirection": "+",
          "startIntronOffset": 7575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000450221.6:c.340+7576C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414900.2:n.340+7576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756277"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 470,
          "referenceAllele": "C",
          "start": 469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000611340.5:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480268.1:p.Ala110Val",
        "hgvsWellDefined": "ENSP00000480268.1:p.Ala110Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "referenceAllele": "C",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000638262.1:c.501C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492876.1:p.Gly167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 682,
          "referenceAllele": "C",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000638554.1:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492823.1:n.682C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "referenceAllele": "C",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000638597.1:n.200C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "endIntronDirection": "+",
          "endIntronOffset": 7576,
          "referenceAllele": "C",
          "start": 501,
          "startIntronDirection": "+",
          "startIntronOffset": 7575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000638717.1:c.501+7576C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 530,
          "referenceAllele": "C",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000638778.1:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491353.1:p.Ala110Val",
        "hgvsWellDefined": "ENSP00000491353.1:p.Ala110Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000638783.1:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491338.1:p.Ala110Val",
        "hgvsWellDefined": "ENSP00000491338.1:p.Ala110Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000639049.1:c.970C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4655,
          "referenceAllele": "C",
          "start": 4654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000639106.1:n.4655C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 521,
          "referenceAllele": "C",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000639423.1:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492701.1:p.Ala110Val",
        "hgvsWellDefined": "ENSP00000492701.1:p.Ala110Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000639465.1:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491180.1:p.Ala110Val",
        "hgvsWellDefined": "ENSP00000491180.1:p.Ala110Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "C",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000639648.1:n.324C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1284,
          "referenceAllele": "C",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000639799.1:n.1284C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6067,
          "referenceAllele": "C",
          "start": 6066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000639859.1:n.6067C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000640225.1:c.*277C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492179.1:n.*277C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "C",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000640351.1:c.479C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 257,
          "referenceAllele": "C",
          "start": 256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000640980.1:c.87C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491191.1:p.Gly29="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1269,
          "referenceAllele": "C",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000367519.7:c.743C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356489.3:p.Ala248Val",
        "hgvsWellDefined": "ENSP00000356489.3:p.Ala248Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000435470.1:c.502C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS293537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 417,
          "endIntronDirection": "+",
          "endIntronOffset": 7576,
          "referenceAllele": "C",
          "start": 417,
          "startIntronDirection": "+",
          "startIntronOffset": 7575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000450221.5:c.417+7576C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS300603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1284,
          "referenceAllele": "C",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000611340.4:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480268.1:p.Ala110Val",
        "hgvsWellDefined": "ENSP00000480268.1:p.Ala110Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "ENST00000618445.4:c.743C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480339.1:p.Ala248Val",
        "hgvsWellDefined": "ENSP00000480339.1:p.Ala248Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825325496",
      "coordinates": [
        {
          "allele": "T",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NM_001018041.1:c.743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018051.1:p.Ala248Val",
        "hgvsWellDefined": "NP_001018051.1:p.Ala248Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008660"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645463473",
      "coordinates": [
        {
          "allele": "T",
          "end": 1100,
          "referenceAllele": "C",
          "start": 1099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NM_005670.3:c.743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005661.1:p.Ala248Val",
        "hgvsWellDefined": "NP_005661.1:p.Ala248Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "XM_006715564.2:c.501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715627.1:p.Gly167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "endIntronDirection": "+",
          "endIntronOffset": 7576,
          "referenceAllele": "C",
          "start": 1514,
          "startIntronDirection": "+",
          "startIntronOffset": 7575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "XM_011536113.1:c.718+7576C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534415.1:n.718+7576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "endIntronDirection": "+",
          "endIntronOffset": 7576,
          "referenceAllele": "C",
          "start": 1514,
          "startIntronDirection": "+",
          "startIntronOffset": 7575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "XM_011536114.1:c.718+7576C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534416.1:n.718+7576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103116"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "referenceAllele": "C",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "XM_011536116.1:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534418.1:p.Ala110Val",
        "hgvsWellDefined": "XP_011534418.1:p.Ala110Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828058461",
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NM_001360057.1:c.501C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001346986.1:p.Gly167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828058582",
      "coordinates": [
        {
          "allele": "T",
          "end": 556,
          "referenceAllele": "C",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NM_001360064.1:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001346993.1:p.Ala110Val",
        "hgvsWellDefined": "NP_001346993.1:p.Ala110Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522991"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828058735",
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NM_001360071.1:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001347000.1:p.Ala110Val",
        "hgvsWellDefined": "NP_001347000.1:p.Ala110Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 926,
          "referenceAllele": "C",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NR_153397.1:n.926C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 314,
          "referenceAllele": "C",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NR_153398.1:n.314C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1238,
          "endIntronDirection": "+",
          "endIntronOffset": 7576,
          "referenceAllele": "C",
          "start": 1238,
          "startIntronDirection": "+",
          "startIntronOffset": 7575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "XM_011536113.2:c.718+7576C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534415.1:n.718+7576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "C",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "XM_017011301.1:c.281C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866790.1:p.Ala94Val",
        "hgvsWellDefined": "XP_016866790.1:p.Ala94Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "C",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "XM_017011302.1:c.281C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866791.1:p.Ala94Val",
        "hgvsWellDefined": "XP_016866791.1:p.Ala94Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1238,
          "endIntronDirection": "+",
          "endIntronOffset": 7576,
          "referenceAllele": "C",
          "start": 1238,
          "startIntronDirection": "+",
          "startIntronOffset": 7575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "XM_024446550.1:c.718+7576C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302318.1:n.718+7576C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580210"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 659,
          "referenceAllele": "C",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "XM_024446551.1:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302319.1:p.Ala110Val",
        "hgvsWellDefined": "XP_024302319.1:p.Ala110Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645463473",
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NM_005670.4:c.743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005661.1:p.Ala248Val",
        "hgvsWellDefined": "NP_005661.1:p.Ala248Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667085",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367519.9:c.743C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005670.4:c.743C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356489.3:p.Ala248Val"
          },
          "RefSeq": {
            "hgvs": "NP_005661.1:p.Ala248Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825325496",
      "coordinates": [
        {
          "allele": "T",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NM_001018041.2:c.743C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018051.1:p.Ala248Val",
        "hgvsWellDefined": "NP_001018051.1:p.Ala248Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828058461",
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NM_001360057.2:c.501C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001346986.1:p.Gly167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690493"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828058582",
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NM_001360064.2:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001346993.1:p.Ala110Val",
        "hgvsWellDefined": "NP_001346993.1:p.Ala110Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690494"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828058735",
      "coordinates": [
        {
          "allele": "T",
          "end": 1020,
          "referenceAllele": "C",
          "start": 1019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NM_001360071.2:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001347000.1:p.Ala110Val",
        "hgvsWellDefined": "NP_001347000.1:p.Ala110Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690495"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828284053",
      "coordinates": [
        {
          "allele": "T",
          "end": 926,
          "referenceAllele": "C",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NM_001368129.2:c.281C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355058.1:p.Ala94Val",
        "hgvsWellDefined": "NP_001355058.1:p.Ala94Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828284407",
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NM_001368131.1:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355060.1:p.Ala110Val",
        "hgvsWellDefined": "NP_001355060.1:p.Ala110Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691362"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828284538",
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NM_001368132.1:c.281C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355061.1:p.Ala94Val",
        "hgvsWellDefined": "NP_001355061.1:p.Ala94Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "referenceAllele": "C",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NR_153398.2:n.316C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704950"
    }
  ],
  "type": "nucleotide"
}