{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399806056",
  "communityStandardTitle": [
    "NM_000419.5(ITGA2B):c.409-1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=615753[alleleid]",
        "alleleId": 615753,
        "preferredName": "NM_000419.5(ITGA2B):c.409-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/627063",
        "RCV": [
          "RCV000851783"
        ],
        "variationId": 627063
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42463085C>T?assembly=hg19",
        "id": "chr17:g.42463085C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44385717C>T?assembly=hg38",
        "id": "chr17:g.44385717C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1393747638",
        "rs": 1393747638
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44385717-C-T?dataset=gnomad_r3",
        "id": "17-44385717-C-T",
        "variant": "17:44385717 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44385717-C-T?dataset=gnomad_r4",
        "id": "17-44385717-C-T",
        "variant": "17:44385717 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44385717,
          "referenceAllele": "C",
          "start": 44385716
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44385717C>T",
        "CM000679.2:g.44385717C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42463085,
          "referenceAllele": "C",
          "start": 42463084
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42463085C>T",
        "CM000679.1:g.42463085C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39818611,
          "referenceAllele": "C",
          "start": 39818610
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39818611C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8789,
          "referenceAllele": "G",
          "start": 8788
        }
      ],
      "hgvs": [
        "NG_008331.1:g.8789G>A",
        "LRG_479:g.8789G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001032"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 584,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 584,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.6:c.409-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:n.409-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.409-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.409-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:n.409-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:n.409-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 440,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 440,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.5:c.409-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:n.409-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93,
          "referenceAllele": "G",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000592944.1:n.93G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 440,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 440,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.3:c.409-1G>A",
        "LRG_479t1:c.409-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:n.409-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 440,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 440,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524749.1:c.409-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523051.1:n.409-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 440,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 440,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524750.1:c.409-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523052.1:n.409-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091871"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 536,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 536,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.4:c.409-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:n.409-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510793"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 584,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 584,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.5:c.409-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:n.409-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.409-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.409-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:n.409-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:n.409-1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}