{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12827536",
  "communityStandardTitle": [
    "NM_001118887.2(ANGPT2):c.444+1213G>A",
    "NM_024596.5(MCPH1):c.2214+31190C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.6388640C>T?assembly=hg19",
        "id": "chr8:g.6388640C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.6531119C>T?assembly=hg38",
        "id": "chr8:g.6531119C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2515477",
        "rs": 2515477
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-6388640-C-T?dataset=gnomad_r2_1",
        "id": "8-6388640-C-T",
        "variant": "8:6388640 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-6531119-C-T?dataset=gnomad_r3",
        "id": "8-6531119-C-T",
        "variant": "8:6531119 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-6531119-C-T?dataset=gnomad_r4",
        "id": "8-6531119-C-T",
        "variant": "8:6531119 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 6531119,
          "referenceAllele": "C",
          "start": 6531118
        }
      ],
      "hgvs": [
        "NC_000008.11:g.6531119C>T",
        "CM000670.2:g.6531119C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 6388640,
          "referenceAllele": "C",
          "start": 6388639
        }
      ],
      "hgvs": [
        "NC_000008.10:g.6388640C>T",
        "CM000670.1:g.6388640C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 6376048,
          "referenceAllele": "C",
          "start": 6376047
        }
      ],
      "hgvs": [
        "NC_000008.9:g.6376048C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 129528,
          "referenceAllele": "C",
          "start": 129527
        }
      ],
      "hgvs": [
        "NG_016619.1:g.129528C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37145,
          "referenceAllele": "G",
          "start": 37144
        }
      ],
      "hgvs": [
        "NG_029483.1:g.37145G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 129528,
          "referenceAllele": "C",
          "start": 129527
        }
      ],
      "hgvs": [
        "NG_016619.2:g.129528C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616234"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 440,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000519221.6:n.440+31190C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 474,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 474,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000521129.2:c.261+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509664.1:n.261+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 937,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 937,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000521175.2:n.937+31190C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825668"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 1152,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000687324.1:n.1152+31190C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 321,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000687413.1:c.303+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510583.1:n.303+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2345,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2345,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000687720.1:c.*2162+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510728.1:n.*2162+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2371,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2371,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000688101.1:c.2371+31190C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2253,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2253,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000688388.1:c.*203+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510092.1:n.*203+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1174,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 1174,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000689148.1:n.1174+31190C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2255,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2255,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000689348.1:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509554.1:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1956,
          "endIntronDirection": "+",
          "endIntronOffset": 75867,
          "referenceAllele": "C",
          "start": 1956,
          "startIntronDirection": "+",
          "startIntronOffset": 75866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000689633.1:c.1935+75867C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509054.1:n.1935+75867C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 899,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 899,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000689736.1:c.858+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509722.1:n.858+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2876,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2876,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000690159.1:c.*2493+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510482.1:n.*2493+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1100,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 1100,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000690708.1:c.1059+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510400.1:n.1059+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2286,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2286,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000690826.1:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510536.1:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2235,
          "endIntronDirection": "-",
          "endIntronOffset": 14342,
          "referenceAllele": "C",
          "start": 2235,
          "startIntronDirection": "-",
          "startIntronOffset": 14343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000691435.1:c.2215-14343C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510652.1:n.2215-14343C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2228,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2228,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000692836.1:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509971.1:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2273,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2273,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000692938.1:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509072.1:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1871,
          "endIntronDirection": "+",
          "endIntronOffset": 75867,
          "referenceAllele": "C",
          "start": 1871,
          "startIntronDirection": "+",
          "startIntronOffset": 75866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000693231.1:c.*1675+75867C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510764.1:n.*1675+75867C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2255,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2255,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000344683.10:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342924.5:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748239",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344683.10:c.2214+31190C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024596.5:c.2214+31190C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342924.5:n.2214+31190C>T"
          },
          "RefSeq": {
            "hgvs": "NP_078872.3:n.2214+31190C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 755,
          "endIntronDirection": "+",
          "endIntronOffset": 1213,
          "referenceAllele": "G",
          "start": 755,
          "startIntronDirection": "+",
          "startIntronOffset": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "ENST00000629816.3:c.444+1213G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486858.2:n.444+1213G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762528",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000629816.3:c.444+1213G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001118887.2:c.444+1213G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486858.2:n.444+1213G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001112359.1:n.444+1213G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 919,
          "endIntronDirection": "+",
          "endIntronOffset": 1213,
          "referenceAllele": "G",
          "start": 919,
          "startIntronDirection": "+",
          "startIntronOffset": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "ENST00000325203.9:c.444+1213G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314897.5:n.444+1213G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258454"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "endIntronDirection": "-",
          "endIntronOffset": 3442,
          "referenceAllele": "G",
          "start": 398,
          "startIntronDirection": "-",
          "startIntronOffset": 3443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "ENST00000338312.10:c.289-3443G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343517.6:n.289-3443G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2290,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2290,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000344683.9:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342924.5:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 321,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 321,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000519221.5:n.321+31190C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000521129.1:n.372+31190C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348024"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 755,
          "endIntronDirection": "+",
          "endIntronOffset": 1213,
          "referenceAllele": "G",
          "start": 755,
          "startIntronDirection": "+",
          "startIntronOffset": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "ENST00000523120.2:c.444+1213G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428023.1:n.444+1213G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 755,
          "endIntronDirection": "+",
          "endIntronOffset": 1213,
          "referenceAllele": "G",
          "start": 755,
          "startIntronDirection": "+",
          "startIntronOffset": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "ENST00000629816.2:c.444+1213G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486858.1:n.444+1213G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 773,
          "endIntronDirection": "+",
          "endIntronOffset": 1213,
          "referenceAllele": "G",
          "start": 773,
          "startIntronDirection": "+",
          "startIntronOffset": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "NM_001118887.1:c.444+1213G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001112359.1:n.444+1213G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011370"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 617,
          "endIntronDirection": "-",
          "endIntronOffset": 3442,
          "referenceAllele": "G",
          "start": 617,
          "startIntronDirection": "-",
          "startIntronOffset": 3443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "NM_001118888.1:c.289-3443G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001112360.1:n.289-3443G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 773,
          "endIntronDirection": "+",
          "endIntronOffset": 1213,
          "referenceAllele": "G",
          "start": 773,
          "startIntronDirection": "+",
          "startIntronOffset": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "NM_001147.2:c.444+1213G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138.1:n.444+1213G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2290,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2290,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_024596.3:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078872.2:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2285,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2285,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_011534755.1:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533057.1:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2285,
          "endIntronDirection": "-",
          "endIntronOffset": 24146,
          "referenceAllele": "C",
          "start": 2285,
          "startIntronDirection": "-",
          "startIntronOffset": 24147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_011534756.1:c.2215-24147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533058.1:n.2215-24147C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2285,
          "endIntronDirection": "-",
          "endIntronOffset": 30736,
          "referenceAllele": "C",
          "start": 2285,
          "startIntronDirection": "-",
          "startIntronOffset": 30737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_011534757.1:c.2215-30737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533059.1:n.2215-30737C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2285,
          "endIntronDirection": "-",
          "endIntronOffset": 14342,
          "referenceAllele": "C",
          "start": 2285,
          "startIntronDirection": "-",
          "startIntronOffset": 14343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_011534759.1:c.2215-14343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533061.1:n.2215-14343C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1863,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 1863,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_011534760.1:c.1689+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533062.1:n.1689+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2290,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2290,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_001322042.1:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308971.1:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2255,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2255,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_001363979.1:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350908.1:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1976,
          "endIntronDirection": "+",
          "endIntronOffset": 75867,
          "referenceAllele": "C",
          "start": 1976,
          "startIntronDirection": "+",
          "startIntronOffset": 75866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_001363980.1:c.1935+75867C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350909.1:n.1935+75867C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2290,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2290,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_024596.4:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078872.2:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2262,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2262,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_011534755.3:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533057.1:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2267,
          "endIntronDirection": "-",
          "endIntronOffset": 24146,
          "referenceAllele": "C",
          "start": 2267,
          "startIntronDirection": "-",
          "startIntronOffset": 24147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_011534756.3:c.2215-24147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533058.1:n.2215-24147C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2267,
          "endIntronDirection": "-",
          "endIntronOffset": 30736,
          "referenceAllele": "C",
          "start": 2267,
          "startIntronDirection": "-",
          "startIntronOffset": 30737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_011534757.3:c.2215-30737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533059.1:n.2215-30737C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2267,
          "endIntronDirection": "-",
          "endIntronOffset": 14342,
          "referenceAllele": "C",
          "start": 2267,
          "startIntronDirection": "-",
          "startIntronOffset": 14343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_011534759.3:c.2215-14343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533061.1:n.2215-14343C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 1866,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_011534760.2:c.1689+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533062.1:n.1689+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 774,
          "endIntronDirection": "-",
          "endIntronOffset": 3442,
          "referenceAllele": "G",
          "start": 774,
          "startIntronDirection": "-",
          "startIntronOffset": 3443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "XM_017013318.1:c.289-3443G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868807.1:n.289-3443G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2262,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2262,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_017013829.2:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869318.1:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2061,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2061,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_017013831.2:c.2013+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869320.1:n.2013+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "endIntronDirection": "+",
          "endIntronOffset": 75867,
          "referenceAllele": "C",
          "start": 1983,
          "startIntronDirection": "+",
          "startIntronOffset": 75866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_017013832.2:c.1935+75867C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869321.1:n.1935+75867C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2267,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2267,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_017013833.2:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869322.1:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2267,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2267,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XR_001745596.2:n.2267+31190C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2255,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2255,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_024596.5:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078872.3:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670700",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344683.10:c.2214+31190C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024596.5:c.2214+31190C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342924.5:n.2214+31190C>T"
          },
          "RefSeq": {
            "hgvs": "NP_078872.3:n.2214+31190C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 755,
          "endIntronDirection": "+",
          "endIntronOffset": 1213,
          "referenceAllele": "G",
          "start": 755,
          "startIntronDirection": "+",
          "startIntronOffset": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "NM_001118887.2:c.444+1213G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001112359.1:n.444+1213G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676769",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000629816.3:c.444+1213G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001118887.2:c.444+1213G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000486858.2:n.444+1213G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001112359.1:n.444+1213G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 599,
          "endIntronDirection": "-",
          "endIntronOffset": 3442,
          "referenceAllele": "G",
          "start": 599,
          "startIntronDirection": "-",
          "startIntronOffset": 3443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "NM_001118888.2:c.289-3443G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001112360.1:n.289-3443G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 755,
          "endIntronDirection": "+",
          "endIntronOffset": 1213,
          "referenceAllele": "G",
          "start": 755,
          "startIntronDirection": "+",
          "startIntronOffset": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "NM_001147.3:c.444+1213G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138.1:n.444+1213G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2255,
          "endIntronDirection": "+",
          "endIntronOffset": 31190,
          "referenceAllele": "C",
          "start": 2255,
          "startIntronDirection": "+",
          "startIntronOffset": 31189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_001322042.2:c.2214+31190C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308971.2:n.2214+31190C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1976,
          "endIntronDirection": "+",
          "endIntronOffset": 75867,
          "referenceAllele": "C",
          "start": 1976,
          "startIntronDirection": "+",
          "startIntronOffset": 75866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_001363980.2:c.1935+75867C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350909.1:n.1935+75867C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690799"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 599,
          "endIntronDirection": "-",
          "endIntronOffset": 3442,
          "referenceAllele": "G",
          "start": 599,
          "startIntronDirection": "-",
          "startIntronOffset": 3443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "NM_001386335.1:c.289-3443G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373264.1:n.289-3443G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 755,
          "endIntronDirection": "+",
          "endIntronOffset": 1213,
          "referenceAllele": "G",
          "start": 755,
          "startIntronDirection": "+",
          "startIntronOffset": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "NM_001386336.1:c.444+1213G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373265.1:n.444+1213G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 755,
          "endIntronDirection": "+",
          "endIntronOffset": 1213,
          "referenceAllele": "G",
          "start": 755,
          "startIntronDirection": "+",
          "startIntronOffset": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000485",
      "geneNCBI_id": 285,
      "geneSymbol": "ANGPT2",
      "hgvs": [
        "NM_001386337.1:c.444+1213G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373266.1:n.444+1213G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724495"
    }
  ],
  "type": "nucleotide"
}