{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA214753",
  "communityStandardTitle": [
    "NM_000517.6(HBA2):c.122A>T (p.Lys41Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30883[alleleid]",
        "alleleId": 30883,
        "preferredName": "NM_000517.6(HBA2):c.122A>T (p.Lys41Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15844",
        "RCV": [
          "RCV000017189",
          "RCV000641239"
        ],
        "variationId": 15844
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.223150A>T?assembly=hg19",
        "id": "chr16:g.223150A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.173151A>T?assembly=hg38",
        "id": "chr16:g.173151A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/281864828",
        "rs": 281864828
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 173151,
          "referenceAllele": "A",
          "start": 173150
        }
      ],
      "hgvs": [
        "NC_000016.10:g.173151A>T",
        "CM000678.2:g.173151A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 223150,
          "referenceAllele": "A",
          "start": 223149
        }
      ],
      "hgvs": [
        "NC_000016.9:g.223150A>T",
        "CM000678.1:g.223150A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 163150,
          "referenceAllele": "A",
          "start": 163149
        }
      ],
      "hgvs": [
        "NC_000016.8:g.163150A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34014,
          "referenceAllele": "A",
          "start": 34013
        }
      ],
      "hgvs": [
        "NG_000006.1:g.34014A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1501,
          "referenceAllele": "A",
          "start": 1500
        }
      ],
      "hgvs": [
        "NG_059186.1:g.1501A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617596"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5305,
          "referenceAllele": "A",
          "start": 5304
        }
      ],
      "hgvs": [
        "NG_059271.1:g.5305A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 159,
          "referenceAllele": "A",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000251595.11:c.122A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251595.6:p.Lys41Met",
        "hgvsWellDefined": "ENSP00000251595.6:p.Lys41Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741486",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251595.11:c.122A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000517.6:c.122A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251595.6:p.Lys41Met"
          },
          "RefSeq": {
            "hgvs": "NP_000508.1:p.Lys41Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 188,
          "referenceAllele": "A",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000251595.10:c.122A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000251595.6:p.Lys41Met",
        "hgvsWellDefined": "ENSP00000251595.6:p.Lys41Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 96,
          "referenceAllele": "A",
          "start": 95
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000397806.1:c.26A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380908.1:p.Lys9Met",
        "hgvsWellDefined": "ENSP00000380908.1:p.Lys9Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277990"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 258,
          "referenceAllele": "A",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000482565.1:n.258A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 91,
          "referenceAllele": "A",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "ENST00000484216.1:n.91A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323518"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214754",
      "coordinates": [
        {
          "allele": "T",
          "end": 188,
          "referenceAllele": "A",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NM_000517.4:c.122A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000508.1:p.Lys41Met",
        "hgvsWellDefined": "NP_000508.1:p.Lys41Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006574"
    },
    {
      "@id": "http://reg.genome.network/allele/PA214754",
      "coordinates": [
        {
          "allele": "T",
          "end": 159,
          "referenceAllele": "A",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004824",
      "geneNCBI_id": 3040,
      "geneSymbol": "HBA2",
      "hgvs": [
        "NM_000517.6:c.122A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000508.1:p.Lys41Met",
        "hgvsWellDefined": "NP_000508.1:p.Lys41Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510807",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251595.11:c.122A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000517.6:c.122A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251595.6:p.Lys41Met"
          },
          "RefSeq": {
            "hgvs": "NP_000508.1:p.Lys41Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}