{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA364052939",
  "communityStandardTitle": [
    "NM_024807.4(TREML2):c.430A>T (p.Ser144Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4446113[alleleid]",
        "alleleId": 4446113,
        "preferredName": "NM_024807.4(TREML2):c.430A>T (p.Ser144Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4327993",
        "RCV": [
          "RCV005984321"
        ],
        "variationId": 4327993
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.41162518T>A?assembly=hg19",
        "id": "chr6:g.41162518T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.41194780T>A?assembly=hg38",
        "id": "chr6:g.41194780T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3747742",
        "rs": 3747742
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 41194780,
          "referenceAllele": "T",
          "start": 41194779
        }
      ],
      "hgvs": [
        "NC_000006.12:g.41194780T>A",
        "CM000668.2:g.41194780T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 41162518,
          "referenceAllele": "T",
          "start": 41162517
        }
      ],
      "hgvs": [
        "NC_000006.11:g.41162518T>A",
        "CM000668.1:g.41162518T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 41270496,
          "referenceAllele": "T",
          "start": 41270495
        }
      ],
      "hgvs": [
        "NC_000006.10:g.41270496T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "A",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021092",
      "geneNCBI_id": 79865,
      "geneSymbol": "TREML2",
      "hgvs": [
        "ENST00000483722.2:c.430A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418767.1:p.Ser144Cys",
        "hgvsWellDefined": "ENSP00000418767.1:p.Ser144Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000483722.2:c.430A>T"
          },
          "RefSeq": {
            "hgvs": "NM_024807.4:c.430A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418767.1:p.Ser144Cys"
          },
          "RefSeq": {
            "hgvs": "NP_079083.2:p.Ser144Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 616,
          "referenceAllele": "A",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021092",
      "geneNCBI_id": 79865,
      "geneSymbol": "TREML2",
      "hgvs": [
        "ENST00000483722.1:c.430A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418767.1:p.Ser144Cys",
        "hgvsWellDefined": "ENSP00000418767.1:p.Ser144Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323128"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072129051",
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "A",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021092",
      "geneNCBI_id": 79865,
      "geneSymbol": "TREML2",
      "hgvs": [
        "NM_024807.3:c.430A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079083.2:p.Ser144Cys",
        "hgvsWellDefined": "NP_079083.2:p.Ser144Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021092",
      "geneNCBI_id": 79865,
      "geneSymbol": "TREML2",
      "hgvs": [
        "XM_011514917.1:c.286A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513219.1:p.Ser96Cys",
        "hgvsWellDefined": "XP_011513219.1:p.Ser96Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 334,
          "referenceAllele": "A",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021092",
      "geneNCBI_id": 79865,
      "geneSymbol": "TREML2",
      "hgvs": [
        "XM_011514917.2:c.286A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513219.1:p.Ser96Cys",
        "hgvsWellDefined": "XP_011513219.1:p.Ser96Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543520"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3072129051",
      "coordinates": [
        {
          "allele": "T",
          "end": 571,
          "referenceAllele": "A",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021092",
      "geneNCBI_id": 79865,
      "geneSymbol": "TREML2",
      "hgvs": [
        "NM_024807.4:c.430A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079083.2:p.Ser144Cys",
        "hgvsWellDefined": "NP_079083.2:p.Ser144Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000483722.2:c.430A>T"
          },
          "RefSeq": {
            "hgvs": "NM_024807.4:c.430A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000418767.1:p.Ser144Cys"
          },
          "RefSeq": {
            "hgvs": "NP_079083.2:p.Ser144Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}