{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA216939698",
  "communityStandardTitle": [
    "NM_022772.4(EPS8L2):c.769-2A>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1695378[alleleid]",
        "alleleId": 1695378,
        "preferredName": "NM_022772.4(EPS8L2):c.769-2A>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1702986",
        "RCV": [
          "RCV002279897"
        ],
        "variationId": 1702986
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.721563A>T?assembly=hg19",
        "id": "chr11:g.721563A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.721563A>T?assembly=hg38",
        "id": "chr11:g.721563A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/111293076",
        "rs": 111293076
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 721563,
          "referenceAllele": "A",
          "start": 721562
        }
      ],
      "hgvs": [
        "NC_000011.10:g.721563A>T",
        "CM000673.2:g.721563A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 721563,
          "referenceAllele": "A",
          "start": 721562
        }
      ],
      "hgvs": [
        "NC_000011.9:g.721563A>T",
        "CM000673.1:g.721563A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 711563,
          "referenceAllele": "A",
          "start": 711562
        }
      ],
      "hgvs": [
        "NC_000011.8:g.711563A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21347,
          "referenceAllele": "A",
          "start": 21346
        }
      ],
      "hgvs": [
        "NG_051601.1:g.21347A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617015"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 904,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000318562.13:c.769-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320828.8:n.769-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746228",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318562.13:c.769-2A>T"
          },
          "RefSeq": {
            "hgvs": "NM_022772.4:c.769-2A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320828.8:n.769-2A>T"
          },
          "RefSeq": {
            "hgvs": "NP_073609.2:n.769-2A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 919,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 919,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000650127.1:c.769-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497389.1:n.769-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770953"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1022,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1022,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000318562.12:c.769-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000320828.8:n.769-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 432,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000524474.5:n.433-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS350628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 856,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000526198.5:c.817-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436230.1:n.817-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 256,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000526651.5:n.257-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1724,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1724,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000526909.5:c.*1474-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433173.1:n.*1474-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 200,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 200,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000528770.5:c.201-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 980,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 980,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000529346.5:n.981-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 190,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000530452.6:c.191-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS355705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1019,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000530636.5:c.769-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436035.1:n.769-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 381,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000531471.1:n.382-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 183,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 183,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000532545.1:n.184-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1143,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000533256.5:c.769-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435585.1:n.769-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 71,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 71,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000533816.1:n.72-2A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1063,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "ENST00000614442.4:c.817-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480201.1:n.817-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1015,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "NM_022772.3:c.769-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_073609.2:n.769-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1103,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1103,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "XM_017018131.1:c.769-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873620.1:n.769-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1073,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1073,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "XM_017018132.1:c.769-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873621.1:n.769-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 904,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021296",
      "geneNCBI_id": 64787,
      "geneSymbol": "EPS8L2",
      "hgvs": [
        "NM_022772.4:c.769-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_073609.2:n.769-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670498",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318562.13:c.769-2A>T"
          },
          "RefSeq": {
            "hgvs": "NM_022772.4:c.769-2A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000320828.8:n.769-2A>T"
          },
          "RefSeq": {
            "hgvs": "NP_073609.2:n.769-2A>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}