{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA377481223",
  "communityStandardTitle": [
    "NM_000314.8(PTEN):c.210-2A>G"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=921075",
        "active": true,
        "id": "COSM921075"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=569845[alleleid]",
        "alleleId": 569845,
        "preferredName": "NM_000314.8(PTEN):c.210-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/576440",
        "RCV": [
          "RCV000698937",
          "RCV001542802",
          "RCV002422549",
          "RCV003229600"
        ],
        "variationId": 576440
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.89690801A>G?assembly=hg19",
        "id": "chr10:g.89690801A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.87931044A>G?assembly=hg38",
        "id": "chr10:g.87931044A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1564828914",
        "rs": 1564828914
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 87931044,
          "referenceAllele": "A",
          "start": 87931043
        }
      ],
      "hgvs": [
        "NC_000010.11:g.87931044A>G",
        "CM000672.2:g.87931044A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 89690801,
          "referenceAllele": "A",
          "start": 89690800
        }
      ],
      "hgvs": [
        "NC_000010.10:g.89690801A>G",
        "CM000672.1:g.89690801A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 89680781,
          "referenceAllele": "A",
          "start": 89680780
        }
      ],
      "hgvs": [
        "NC_000010.9:g.89680781A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 72606,
          "referenceAllele": "A",
          "start": 72605
        }
      ],
      "hgvs": [
        "NG_007466.2:g.72606A>G",
        "LRG_311:g.72606A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000591"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1054,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700029.2:c.210-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514759.2:n.210-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1054,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000710265.1:c.210-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518161.1:n.210-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 350,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 350,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000472832.3:c.210-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483066.2:n.210-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 944,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 944,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688158.2:n.945-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 402,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688922.2:c.*40-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508742.2:n.*40-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 839,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 839,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700021.1:c.165-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514757.1:n.165-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910887"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 600,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700022.1:c.210-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514758.1:n.210-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910888"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 43,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000700029.1:c.44-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 305,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 305,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000706954.1:c.210-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516674.1:n.210-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1224,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1224,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000706955.1:c.*245-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516675.1:n.*245-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 351,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 351,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000686459.1:c.210-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508909.1:n.210-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830588"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1300,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1300,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688158.1:c.*321-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509254.1:n.*321-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 701,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 701,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688308.1:c.210-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508752.1:n.210-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 130,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 130,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000688922.1:c.131-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1240,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1240,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000693560.1:c.729-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509861.1:n.729-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834309"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1054,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000371953.8:c.210-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361021.3:n.210-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750898",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.210-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.210-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:n.210-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:n.210-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1566,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1566,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000371953.7:c.210-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361021.3:n.210-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 35,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 35,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000498703.1:n.36-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1241,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1241,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "ENST00000610634.1:c.108-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477517.1:n.108-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS400508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1240,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1240,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.5:c.210-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:n.210-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006376"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1240,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1240,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.6:c.210-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:n.210-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006377"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1240,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1240,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.2:c.729-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.2:n.729-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025775"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1195,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.1:c.-541-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:n.-541-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025776"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 876,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_006717926.2:c.165-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717989.1:n.165-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 921,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_011539981.1:c.210-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538283.1:n.210-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3893,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 3893,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XM_011539982.1:c.114-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538284.1:n.114-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106932"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 921,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945789.1:n.922-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 921,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945790.1:n.922-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 921,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "XR_945791.1:n.922-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS139424"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1053,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.7:c.210-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:n.210-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1053,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304717.5:c.729-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291646.4:n.729-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664314"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1008,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_001304718.2:c.-541-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291647.1:n.-541-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1054,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1054,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009588",
      "geneNCBI_id": 5728,
      "geneSymbol": "PTEN",
      "hgvs": [
        "NM_000314.8:c.210-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000305.3:n.210-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371953.8:c.210-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000314.8:c.210-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361021.3:n.210-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000305.3:n.210-2A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}