{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14613629",
  "communityStandardTitle": [
    "NM_001792.5(CDH2):c.60+5261C>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.25751666G>A?assembly=hg19",
        "id": "chr18:g.25751666G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.28171702G>A?assembly=hg38",
        "id": "chr18:g.28171702G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12605662",
        "rs": 12605662
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-25751666-G-A?dataset=gnomad_r2_1",
        "id": "18-25751666-G-A",
        "variant": "18:25751666 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-28171702-G-A?dataset=gnomad_r3",
        "id": "18-28171702-G-A",
        "variant": "18:28171702 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-28171702-G-A?dataset=gnomad_r4",
        "id": "18-28171702-G-A",
        "variant": "18:28171702 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 28171702,
          "referenceAllele": "G",
          "start": 28171701
        }
      ],
      "hgvs": [
        "NC_000018.10:g.28171702G>A",
        "CM000680.2:g.28171702G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 25751666,
          "referenceAllele": "G",
          "start": 25751665
        }
      ],
      "hgvs": [
        "NC_000018.9:g.25751666G>A",
        "CM000680.1:g.25751666G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 24005664,
          "referenceAllele": "G",
          "start": 24005663
        }
      ],
      "hgvs": [
        "NC_000018.8:g.24005664G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10780,
          "referenceAllele": "C",
          "start": 10779
        }
      ],
      "hgvs": [
        "NG_011959.1:g.10780C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002071"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "+",
          "endIntronOffset": 5261,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "+",
          "startIntronOffset": 5260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "ENST00000269141.8:c.60+5261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269141.3:n.60+5261C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743088",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269141.8:c.60+5261C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001792.5:c.60+5261C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269141.3:n.60+5261C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001783.2:n.60+5261C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 157,
          "endIntronDirection": "+",
          "endIntronOffset": 5261,
          "referenceAllele": "C",
          "start": 157,
          "startIntronDirection": "+",
          "startIntronOffset": 5260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "ENST00000413878.2:c.-343+5261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414269.2:n.-343+5261C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 58,
          "endIntronDirection": "+",
          "endIntronOffset": 5261,
          "referenceAllele": "C",
          "start": 58,
          "startIntronDirection": "+",
          "startIntronOffset": 5260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "ENST00000430882.6:c.-388+5261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412120.2:n.-388+5261C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38,
          "endIntronDirection": "+",
          "endIntronOffset": 5261,
          "referenceAllele": "C",
          "start": 38,
          "startIntronDirection": "+",
          "startIntronOffset": 5260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "ENST00000675708.1:c.-196+5261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501654.1:n.-196+5261C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84,
          "endIntronDirection": "+",
          "endIntronOffset": 6161,
          "referenceAllele": "C",
          "start": 84,
          "startIntronDirection": "+",
          "startIntronOffset": 6160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "ENST00000676445.1:c.-196+6161C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502206.1:n.-196+6161C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484,
          "endIntronDirection": "+",
          "endIntronOffset": 5261,
          "referenceAllele": "C",
          "start": 484,
          "startIntronDirection": "+",
          "startIntronOffset": 5260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "ENST00000269141.7:c.60+5261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269141.3:n.60+5261C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "endIntronDirection": "+",
          "endIntronOffset": 5261,
          "referenceAllele": "C",
          "start": 519,
          "startIntronDirection": "+",
          "startIntronOffset": 5260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "NM_001792.3:c.60+5261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001783.2:n.60+5261C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 484,
          "endIntronDirection": "+",
          "endIntronOffset": 5261,
          "referenceAllele": "C",
          "start": 484,
          "startIntronDirection": "+",
          "startIntronOffset": 5260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "NM_001792.4:c.60+5261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001783.2:n.60+5261C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "endIntronDirection": "+",
          "endIntronOffset": 5261,
          "referenceAllele": "C",
          "start": 61,
          "startIntronDirection": "+",
          "startIntronOffset": 5260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "XM_017025514.2:c.60+5261C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881003.1:n.60+5261C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "endIntronDirection": "+",
          "endIntronOffset": 5261,
          "referenceAllele": "C",
          "start": 168,
          "startIntronDirection": "+",
          "startIntronOffset": 5260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "NM_001792.5:c.60+5261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001783.2:n.60+5261C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665173",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269141.8:c.60+5261C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001792.5:c.60+5261C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269141.3:n.60+5261C>T"
          },
          "RefSeq": {
            "hgvs": "NP_001783.2:n.60+5261C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}