{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399805612",
  "communityStandardTitle": [
    "NM_000419.5(ITGA2B):c.601G>A (p.Gly201Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=983897[alleleid]",
        "alleleId": 983897,
        "preferredName": "NM_000419.5(ITGA2B):c.601G>A (p.Gly201Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996156",
        "RCV": [
          "RCV001290450"
        ],
        "variationId": 996156
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42462677C>T?assembly=hg19",
        "id": "chr17:g.42462677C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44385309C>T?assembly=hg38",
        "id": "chr17:g.44385309C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2048635741",
        "rs": 2048635741
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44385309,
          "referenceAllele": "C",
          "start": 44385308
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44385309C>T",
        "CM000679.2:g.44385309C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42462677,
          "referenceAllele": "C",
          "start": 42462676
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42462677C>T",
        "CM000679.1:g.42462677C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39818203,
          "referenceAllele": "C",
          "start": 39818202
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39818203C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9197,
          "referenceAllele": "G",
          "start": 9196
        }
      ],
      "hgvs": [
        "NG_008331.1:g.9197G>A",
        "LRG_479:g.9197G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001032"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 777,
          "referenceAllele": "G",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.6:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Gly201Ser",
        "hgvsWellDefined": "ENSP00000262407.5:p.Gly201Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.601G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.601G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Gly201Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Gly201Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 32,
          "referenceAllele": "G",
          "start": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000648408.1:c.32G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.5:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Gly201Ser",
        "hgvsWellDefined": "ENSP00000262407.5:p.Gly201Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 55,
          "referenceAllele": "G",
          "start": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000589645.5:n.55G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33,
          "referenceAllele": "G",
          "start": 32
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000592253.5:n.33G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "referenceAllele": "G",
          "start": 285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000592944.1:n.286G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232257",
      "coordinates": [
        {
          "allele": "A",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.3:c.601G>A",
        "LRG_479t1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Gly201Ser",
        "hgvsWellDefined": "NP_000410.2:p.Gly201Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524749.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523051.1:p.Gly201Ser",
        "hgvsWellDefined": "XP_011523051.1:p.Gly201Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 633,
          "referenceAllele": "G",
          "start": 632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524750.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523052.1:p.Gly201Ser",
        "hgvsWellDefined": "XP_011523052.1:p.Gly201Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232257",
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.4:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Gly201Ser",
        "hgvsWellDefined": "NP_000410.2:p.Gly201Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232257",
      "coordinates": [
        {
          "allele": "A",
          "end": 777,
          "referenceAllele": "G",
          "start": 776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.5:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Gly201Ser",
        "hgvsWellDefined": "NP_000410.2:p.Gly201Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.601G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.601G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Gly201Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Gly201Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}