{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA297924584",
  "communityStandardTitle": [
    "NM_001792.5(CDH2):c.173-56409A>T"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.25650282T>A?assembly=hg19",
        "id": "chr18:g.25650282T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.28070318T>A?assembly=hg38",
        "id": "chr18:g.28070318T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1148374",
        "rs": 1148374
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-25650282-T-A?dataset=gnomad_r2_1",
        "id": "18-25650282-T-A",
        "variant": "18:25650282 T / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-28070318-T-A?dataset=gnomad_r3",
        "id": "18-28070318-T-A",
        "variant": "18:28070318 T / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-28070318-T-A?dataset=gnomad_r4",
        "id": "18-28070318-T-A",
        "variant": "18:28070318 T / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 28070318,
          "referenceAllele": "T",
          "start": 28070317
        }
      ],
      "hgvs": [
        "NC_000018.10:g.28070318T>A",
        "CM000680.2:g.28070318T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 25650282,
          "referenceAllele": "T",
          "start": 25650281
        }
      ],
      "hgvs": [
        "NC_000018.9:g.25650282T>A",
        "CM000680.1:g.25650282T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 23904280,
          "referenceAllele": "T",
          "start": 23904279
        }
      ],
      "hgvs": [
        "NC_000018.8:g.23904280T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112164,
          "referenceAllele": "A",
          "start": 112163
        }
      ],
      "hgvs": [
        "NG_011959.1:g.112164A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002071"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "endIntronDirection": "-",
          "endIntronOffset": 56408,
          "referenceAllele": "A",
          "start": 280,
          "startIntronDirection": "-",
          "startIntronOffset": 56409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "ENST00000269141.8:c.173-56409A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269141.3:n.173-56409A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743088",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269141.8:c.173-56409A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001792.5:c.173-56409A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269141.3:n.173-56409A>T"
          },
          "RefSeq": {
            "hgvs": "NP_001783.2:n.173-56409A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "endIntronDirection": "-",
          "endIntronOffset": 56408,
          "referenceAllele": "A",
          "start": 416,
          "startIntronDirection": "-",
          "startIntronOffset": 56409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "ENST00000413878.2:c.-83-56409A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414269.2:n.-83-56409A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "endIntronDirection": "+",
          "endIntronOffset": 26745,
          "referenceAllele": "A",
          "start": 362,
          "startIntronDirection": "+",
          "startIntronOffset": 26744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "ENST00000430882.6:c.-84+26745A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412120.2:n.-84+26745A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150,
          "endIntronDirection": "-",
          "endIntronOffset": 56408,
          "referenceAllele": "A",
          "start": 150,
          "startIntronDirection": "-",
          "startIntronOffset": 56409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "ENST00000675708.1:c.-83-56409A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501654.1:n.-83-56409A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "endIntronDirection": "-",
          "endIntronOffset": 56408,
          "referenceAllele": "A",
          "start": 196,
          "startIntronDirection": "-",
          "startIntronOffset": 56409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "ENST00000676445.1:c.-83-56409A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502206.1:n.-83-56409A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 596,
          "endIntronDirection": "-",
          "endIntronOffset": 56408,
          "referenceAllele": "A",
          "start": 596,
          "startIntronDirection": "-",
          "startIntronOffset": 56409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "ENST00000269141.7:c.173-56409A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269141.3:n.173-56409A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 261,
          "endIntronDirection": "-",
          "endIntronOffset": 56408,
          "referenceAllele": "A",
          "start": 261,
          "startIntronDirection": "-",
          "startIntronOffset": 56409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "ENST00000413878.1:c.-83-56409A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414269.1:n.-83-56409A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283275"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167,
          "endIntronDirection": "+",
          "endIntronOffset": 26745,
          "referenceAllele": "A",
          "start": 167,
          "startIntronDirection": "+",
          "startIntronOffset": 26744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "ENST00000430882.5:c.-84+26745A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000412120.1:n.-84+26745A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 631,
          "endIntronDirection": "-",
          "endIntronOffset": 56408,
          "referenceAllele": "A",
          "start": 631,
          "startIntronDirection": "-",
          "startIntronOffset": 56409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "NM_001792.3:c.173-56409A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001783.2:n.173-56409A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 596,
          "endIntronDirection": "-",
          "endIntronOffset": 56408,
          "referenceAllele": "A",
          "start": 596,
          "startIntronDirection": "-",
          "startIntronOffset": 56409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "NM_001792.4:c.173-56409A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001783.2:n.173-56409A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 133,
          "endIntronDirection": "-",
          "endIntronOffset": 56408,
          "referenceAllele": "A",
          "start": 133,
          "startIntronDirection": "-",
          "startIntronOffset": 56409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "XM_005258181.2:c.119-56409A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258238.1:n.119-56409A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 133,
          "endIntronDirection": "-",
          "endIntronOffset": 56408,
          "referenceAllele": "A",
          "start": 133,
          "startIntronDirection": "-",
          "startIntronOffset": 56409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "XM_011525787.1:c.119-56409A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524089.1:n.119-56409A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092905"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 261,
          "endIntronDirection": "-",
          "endIntronOffset": 56408,
          "referenceAllele": "A",
          "start": 261,
          "startIntronDirection": "-",
          "startIntronOffset": 56409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "XM_011525788.1:c.-83-56409A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524090.1:n.-83-56409A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "endIntronDirection": "-",
          "endIntronOffset": 56408,
          "referenceAllele": "A",
          "start": 173,
          "startIntronDirection": "-",
          "startIntronOffset": 56409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "XM_017025514.2:c.173-56409A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881003.1:n.173-56409A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "endIntronDirection": "-",
          "endIntronOffset": 56408,
          "referenceAllele": "A",
          "start": 280,
          "startIntronDirection": "-",
          "startIntronOffset": 56409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001759",
      "geneNCBI_id": 1000,
      "geneSymbol": "CDH2",
      "hgvs": [
        "NM_001792.5:c.173-56409A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001783.2:n.173-56409A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665173",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269141.8:c.173-56409A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001792.5:c.173-56409A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269141.3:n.173-56409A>T"
          },
          "RefSeq": {
            "hgvs": "NP_001783.2:n.173-56409A>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}