{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA276414830",
  "communityStandardTitle": [
    "NM_000517.6(HBA2):c.215C>A (p.Ala72Glu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=799842[alleleid]",
        "alleleId": 799842,
        "preferredName": "NM_000517.6(HBA2):c.215C>A (p.Ala72Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/810995",
        "RCV": [
          "RCV001811570"
        ],
        "variationId": 810995
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.223243C>A?assembly=hg19",
        "id": "chr16:g.223243C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.173244C>A?assembly=hg38",
        "id": "chr16:g.173244C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281864853",
        "rs": 281864853
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-173244-C-A?dataset=gnomad_r4",
        "id": "16-173244-C-A",
        "variant": "16:173244 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 173244,
          "referenceAllele": "C",
          "start": 173243
        }
      ],
      "hgvs": [
        "NC_000016.10:g.173244C>A",
        "CM000678.2:g.173244C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 223243,
          "referenceAllele": "C",
          "start": 223242
        }
      ],
      "hgvs": [
        "NC_000016.9:g.223243C>A",
        "CM000678.1:g.223243C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 163243,
          "referenceAllele": "C",
          "start": 163242
        }
      ],
      "hgvs": [
        "NC_000016.8:g.163243C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34107,
          "referenceAllele": "C",
          "start": 34106
        }
      ],
      "hgvs": [
        "NG_000006.1:g.34107C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "hgvs": [
        "NG_059186.1:g.1594C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5398,
          "referenceAllele": "C",
          "start": 5397
        }
      ],
      "hgvs": [
        "NG_059271.1:g.5398C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 252,
          "referenceAllele": "C",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000251595.11:c.215C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251595.6:p.Ala72Glu",
        "hgvsWellDefined": "ENSP00000251595.6:p.Ala72Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251595.11:c.215C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000517.6:c.215C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251595.6:p.Ala72Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000508.1:p.Ala72Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 281,
          "referenceAllele": "C",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000251595.10:c.215C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251595.6:p.Ala72Glu",
        "hgvsWellDefined": "ENSP00000251595.6:p.Ala72Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 189,
          "referenceAllele": "C",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000397806.1:c.119C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380908.1:p.Ala40Glu",
        "hgvsWellDefined": "ENSP00000380908.1:p.Ala40Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "referenceAllele": "C",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000482565.1:n.351C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322226"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000484216.1:n.184C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323518"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957995",
      "coordinates": [
        {
          "allele": "A",
          "end": 281,
          "referenceAllele": "C",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NM_000517.4:c.215C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000508.1:p.Ala72Glu",
        "hgvsWellDefined": "NP_000508.1:p.Ala72Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006574"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915957995",
      "coordinates": [
        {
          "allele": "A",
          "end": 252,
          "referenceAllele": "C",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NM_000517.6:c.215C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000508.1:p.Ala72Glu",
        "hgvsWellDefined": "NP_000508.1:p.Ala72Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510807",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251595.11:c.215C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000517.6:c.215C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251595.6:p.Ala72Glu"
          },
          "RefSeq": {
            "hgvs": "NP_000508.1:p.Ala72Glu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}