{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16608466",
  "communityStandardTitle": [
    "NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=378307[alleleid]",
        "alleleId": 378307,
        "preferredName": "NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/381747",
        "RCV": [
          "RCV000443560",
          "RCV001225295",
          "RCV002225613"
        ],
        "variationId": 381747
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42451838C>T?assembly=hg19",
        "id": "chr17:g.42451838C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44374470C>T?assembly=hg38",
        "id": "chr17:g.44374470C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/78657866",
        "rs": 78657866
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42451838-C-T?dataset=gnomad_r2_1",
        "id": "17-42451838-C-T",
        "variant": "17:42451838 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44374470-C-T?dataset=gnomad_r3",
        "id": "17-44374470-C-T",
        "variant": "17:44374470 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44374470-C-T?dataset=gnomad_r4",
        "id": "17-44374470-C-T",
        "variant": "17:44374470 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44374470,
          "referenceAllele": "C",
          "start": 44374469
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44374470C>T",
        "CM000679.2:g.44374470C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42451838,
          "referenceAllele": "C",
          "start": 42451837
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42451838C>T",
        "CM000679.1:g.42451838C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39807364,
          "referenceAllele": "C",
          "start": 39807363
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39807364C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20036,
          "referenceAllele": "G",
          "start": 20035
        }
      ],
      "hgvs": [
        "NG_008331.1:g.20036G>A",
        "LRG_479:g.20036G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001032"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3120,
          "referenceAllele": "G",
          "start": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.6:c.2944G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Val982Met",
        "hgvsWellDefined": "ENSP00000262407.5:p.Val982Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.2944G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.2944G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Val982Met"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Val982Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2374,
          "endIntronDirection": "+",
          "endIntronOffset": 189,
          "referenceAllele": "G",
          "start": 2374,
          "startIntronDirection": "+",
          "startIntronOffset": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000648408.1:c.2374+189G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.5:c.2944G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Val982Met",
        "hgvsWellDefined": "ENSP00000262407.5:p.Val982Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 253,
          "endIntronDirection": "+",
          "endIntronOffset": 1363,
          "referenceAllele": "G",
          "start": 253,
          "startIntronDirection": "+",
          "startIntronOffset": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000587295.5:c.253+1363G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 37,
          "endIntronDirection": "+",
          "endIntronOffset": 189,
          "referenceAllele": "G",
          "start": 37,
          "startIntronDirection": "+",
          "startIntronOffset": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000588098.1:c.37+189G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390547"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2643,
          "referenceAllele": "G",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000592462.5:n.2643G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105753",
      "coordinates": [
        {
          "allele": "A",
          "end": 2976,
          "referenceAllele": "G",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.3:c.2944G>A",
        "LRG_479t1:c.2944G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Val982Met",
        "hgvsWellDefined": "NP_000410.2:p.Val982Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2874,
          "referenceAllele": "G",
          "start": 2873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524749.1:c.2842G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523051.1:p.Val948Met",
        "hgvsWellDefined": "XP_011523051.1:p.Val948Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2975,
          "endIntronDirection": "+",
          "endIntronOffset": 189,
          "referenceAllele": "G",
          "start": 2975,
          "startIntronDirection": "+",
          "startIntronOffset": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524750.1:c.2943+189G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523052.1:n.2943+189G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105753",
      "coordinates": [
        {
          "allele": "A",
          "end": 3072,
          "referenceAllele": "G",
          "start": 3071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.4:c.2944G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Val982Met",
        "hgvsWellDefined": "NP_000410.2:p.Val982Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105753",
      "coordinates": [
        {
          "allele": "A",
          "end": 3120,
          "referenceAllele": "G",
          "start": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.5:c.2944G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Val982Met",
        "hgvsWellDefined": "NP_000410.2:p.Val982Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.2944G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.2944G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Val982Met"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Val982Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}