{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10982331",
  "communityStandardTitle": [
    "NM_017449.5(EPHB2):c.811+22649G>A"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.23134218G>A?assembly=hg19",
        "id": "chr1:g.23134218G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22807725G>A?assembly=hg38",
        "id": "chr1:g.22807725G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10465543",
        "rs": 10465543
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-23134218-G-A?dataset=gnomad_r2_1",
        "id": "1-23134218-G-A",
        "variant": "1:23134218 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22807725-G-A?dataset=gnomad_r3",
        "id": "1-22807725-G-A",
        "variant": "1:22807725 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22807725-G-A?dataset=gnomad_r4",
        "id": "1-22807725-G-A",
        "variant": "1:22807725 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22807725,
          "referenceAllele": "G",
          "start": 22807724
        }
      ],
      "hgvs": [
        "NC_000001.11:g.22807725G>A",
        "CM000663.2:g.22807725G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 23134218,
          "referenceAllele": "G",
          "start": 23134217
        }
      ],
      "hgvs": [
        "NC_000001.10:g.23134218G>A",
        "CM000663.1:g.23134218G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 23006805,
          "referenceAllele": "G",
          "start": 23006804
        }
      ],
      "hgvs": [
        "NC_000001.9:g.23006805G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 101888,
          "referenceAllele": "G",
          "start": 101887
        }
      ],
      "hgvs": [
        "NG_011804.2:g.101888G>A",
        "LRG_780:g.101888G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001987"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 955,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 955,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "ENST00000374630.8:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363761.3:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751465",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374630.8:c.811+22649G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017449.5:c.811+22649G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363761.3:n.811+22649G>A"
          },
          "RefSeq": {
            "hgvs": "NP_059145.2:n.811+22649G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 817,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 817,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "ENST00000374627.1:c.793+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363758.1:n.793+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 829,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "ENST00000374630.7:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363761.3:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 824,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 824,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "ENST00000374632.7:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363763.3:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270334"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 829,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "ENST00000400191.7:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383053.3:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 52,
          "endIntronDirection": "+",
          "endIntronOffset": 7434,
          "referenceAllele": "G",
          "start": 52,
          "startIntronDirection": "+",
          "startIntronOffset": 7433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "ENST00000465676.1:n.52+7434G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 955,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 955,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "ENST00000544305.5:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444174.1:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364495"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 956,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 956,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "NM_001309192.1:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001296121.1:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 956,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 956,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "NM_001309193.1:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001296122.1:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026359"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 956,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 956,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "NM_004442.6:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004433.2:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 956,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 956,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "NM_004442.7:c.811+22649G>A",
        "LRG_780t1:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004433.2:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 956,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 956,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "NM_017449.3:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_059145.2:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 956,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 956,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "NM_017449.4:c.811+22649G>A",
        "LRG_780t2:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_059145.2:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 860,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 860,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "XM_006710441.2:c.790+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710504.1:n.790+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1024,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 1024,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "XM_006710442.2:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710505.1:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1049,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 1049,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "XM_006710441.4:c.790+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710504.1:n.790+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537781"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1024,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 1024,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "XM_006710442.4:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710505.1:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 955,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 955,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "NM_001309192.2:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001296121.1:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 955,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 955,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "NM_001309193.2:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001296122.1:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 955,
          "endIntronDirection": "+",
          "endIntronOffset": 22649,
          "referenceAllele": "G",
          "start": 955,
          "startIntronDirection": "+",
          "startIntronOffset": 22648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003393",
      "geneNCBI_id": 2048,
      "geneSymbol": "EPHB2",
      "hgvs": [
        "NM_017449.5:c.811+22649G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_059145.2:n.811+22649G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728225",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374630.8:c.811+22649G>A"
          },
          "RefSeq": {
            "hgvs": "NM_017449.5:c.811+22649G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363761.3:n.811+22649G>A"
          },
          "RefSeq": {
            "hgvs": "NP_059145.2:n.811+22649G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}