{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA226057",
  "communityStandardTitle": [
    "NM_000180.4(GUCY2D):c.1956+2T>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104443[alleleid]",
        "alleleId": 104443,
        "preferredName": "NM_000180.4(GUCY2D):c.1956+2T>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98550",
        "RCV": [
          "RCV000084843",
          "RCV000761437"
        ],
        "variationId": 98550
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7915670T>A?assembly=hg19",
        "id": "chr17:g.7915670T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8012352T>A?assembly=hg38",
        "id": "chr17:g.8012352T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61749758",
        "rs": 61749758
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 8012352,
          "referenceAllele": "T",
          "start": 8012351
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8012352T>A",
        "CM000679.2:g.8012352T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7915670,
          "referenceAllele": "T",
          "start": 7915669
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7915670T>A",
        "CM000679.1:g.7915670T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 7856395,
          "referenceAllele": "T",
          "start": 7856394
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7856395T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14683,
          "referenceAllele": "T",
          "start": 14682
        }
      ],
      "hgvs": [
        "NG_009092.1:g.14683T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001425"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2085,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2085,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.5:c.1956+2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:n.1956+2T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741685",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.1956+2T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.1956+2T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:n.1956+2T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:n.1956+2T>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2106,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2106,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "ENST00000254854.4:c.1956+2T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:n.1956+2T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2030,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2030,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.3:c.1956+2T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:n.1956+2T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1956,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1956,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "XM_011523816.1:c.1956+2T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522118.1:n.1956+2T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2085,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2085,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.4:c.1956+2T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:n.1956+2T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254854.5:c.1956+2T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000180.4:c.1956+2T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:n.1956+2T>A"
          },
          "RefSeq": {
            "hgvs": "NP_000171.1:n.1956+2T>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}