{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399791171",
  "communityStandardTitle": [
    "NM_000419.5(ITGA2B):c.2864T>A (p.Leu955Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=959442[alleleid]",
        "alleleId": 959442,
        "preferredName": "NM_000419.5(ITGA2B):c.2864T>A (p.Leu955Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/952997",
        "RCV": [
          "RCV001225228"
        ],
        "variationId": 952997
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42452106A>T?assembly=hg19",
        "id": "chr17:g.42452106A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44374738A>T?assembly=hg38",
        "id": "chr17:g.44374738A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2048524687",
        "rs": 2048524687
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44374738,
          "referenceAllele": "A",
          "start": 44374737
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44374738A>T",
        "CM000679.2:g.44374738A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42452106,
          "referenceAllele": "A",
          "start": 42452105
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42452106A>T",
        "CM000679.1:g.42452106A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39807632,
          "referenceAllele": "A",
          "start": 39807631
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39807632A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 19768,
          "referenceAllele": "T",
          "start": 19767
        }
      ],
      "hgvs": [
        "NG_008331.1:g.19768T>A",
        "LRG_479:g.19768T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001032"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3040,
          "referenceAllele": "T",
          "start": 3039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.6:c.2864T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Leu955Gln",
        "hgvsWellDefined": "ENSP00000262407.5:p.Leu955Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.2864T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.2864T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Leu955Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Leu955Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2295,
          "referenceAllele": "T",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000648408.1:c.2295T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2896,
          "referenceAllele": "T",
          "start": 2895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.5:c.2864T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Leu955Gln",
        "hgvsWellDefined": "ENSP00000262407.5:p.Leu955Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 253,
          "endIntronDirection": "+",
          "endIntronOffset": 1095,
          "referenceAllele": "T",
          "start": 253,
          "startIntronDirection": "+",
          "startIntronOffset": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000587295.5:c.253+1095T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2375,
          "referenceAllele": "T",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000592462.5:n.2375T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139688636",
      "coordinates": [
        {
          "allele": "A",
          "end": 2896,
          "referenceAllele": "T",
          "start": 2895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.3:c.2864T>A",
        "LRG_479t1:c.2864T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Leu955Gln",
        "hgvsWellDefined": "NP_000410.2:p.Leu955Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2873,
          "endIntronDirection": "+",
          "endIntronOffset": 260,
          "referenceAllele": "T",
          "start": 2873,
          "startIntronDirection": "+",
          "startIntronOffset": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524749.1:c.2841+260T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523051.1:n.2841+260T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2896,
          "referenceAllele": "T",
          "start": 2895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524750.1:c.2864T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523052.1:p.Leu955Gln",
        "hgvsWellDefined": "XP_011523052.1:p.Leu955Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139688636",
      "coordinates": [
        {
          "allele": "A",
          "end": 2992,
          "referenceAllele": "T",
          "start": 2991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.4:c.2864T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Leu955Gln",
        "hgvsWellDefined": "NP_000410.2:p.Leu955Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139688636",
      "coordinates": [
        {
          "allele": "A",
          "end": 3040,
          "referenceAllele": "T",
          "start": 3039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.5:c.2864T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Leu955Gln",
        "hgvsWellDefined": "NP_000410.2:p.Leu955Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.2864T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.2864T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Leu955Gln"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Leu955Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}