{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA500624244",
  "communityStandardTitle": [
    "NM_000419.5(ITGA2B):c.408G>C (p.Val136=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1683957[alleleid]",
        "alleleId": 1683957,
        "preferredName": "NM_000419.5(ITGA2B):c.408G>C (p.Val136=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1691478",
        "RCV": [
          "RCV002254813"
        ],
        "variationId": 1691478
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42463192C>G?assembly=hg19",
        "id": "chr17:g.42463192C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44385824C>G?assembly=hg38",
        "id": "chr17:g.44385824C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1400938437",
        "rs": 1400938437
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42463192-C-G?dataset=gnomad_r2_1",
        "id": "17-42463192-C-G",
        "variant": "17:42463192 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44385824-C-G?dataset=gnomad_r3",
        "id": "17-44385824-C-G",
        "variant": "17:44385824 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44385824-C-G?dataset=gnomad_r4",
        "id": "17-44385824-C-G",
        "variant": "17:44385824 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 44385824,
          "referenceAllele": "C",
          "start": 44385823
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44385824C>G",
        "CM000679.2:g.44385824C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 42463192,
          "referenceAllele": "C",
          "start": 42463191
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42463192C>G",
        "CM000679.1:g.42463192C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 39818718,
          "referenceAllele": "C",
          "start": 39818717
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39818718C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8682,
          "referenceAllele": "G",
          "start": 8681
        }
      ],
      "hgvs": [
        "NG_008331.1:g.8682G>C",
        "LRG_479:g.8682G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001032"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.6:c.408G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Val136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.408G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.408G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Val136="
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Val136="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "G",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.5:c.408G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Val136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251009"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825165410",
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "G",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.3:c.408G>C",
        "LRG_479t1:c.408G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Val136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "G",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524749.1:c.408G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523051.1:p.Val136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 440,
          "referenceAllele": "G",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524750.1:c.408G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523052.1:p.Val136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825165410",
      "coordinates": [
        {
          "allele": "C",
          "end": 536,
          "referenceAllele": "G",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.4:c.408G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Val136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825165410",
      "coordinates": [
        {
          "allele": "C",
          "end": 584,
          "referenceAllele": "G",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.5:c.408G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Val136="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.408G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.408G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Val136="
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Val136="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}