{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA411316407", "communityStandardTitle": [ "NM_001394555.1(RFPL2):c.784G>T (p.Val262Phe)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.32587112C>A?assembly=hg19", "id": "chr22:g.32587112C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr22:g.32191125C>A?assembly=hg38", "id": "chr22:g.32191125C>A" } ] }, "genomicAlleles": [ { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 32191125, "referenceAllele": "C", "start": 32191124 } ], "hgvs": [ "NC_000022.11:g.32191125C>A", "CM000684.2:g.32191125C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000070" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 32587112, "referenceAllele": "C", "start": 32587111 } ], "hgvs": [ "NC_000022.10:g.32587112C>A", "CM000684.1:g.32587112C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000046" }, { "chromosome": "22", "coordinates": [ { "allele": "A", "end": 30917112, "referenceAllele": "C", "start": 30917111 } ], "hgvs": [ "NC_000022.9:g.30917112C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000022" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "G", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "ENST00000652607.2:c.784G>T" ], "proteinEffect": { "hgvs": "ENSP00000498332.1:p.Val262Phe", "hgvsWellDefined": "ENSP00000498332.1:p.Val262Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS826827", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000652607.2:c.784G>T" }, "RefSeq": { "hgvs": "NM_001394555.1:c.784G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498332.1:p.Val262Phe" }, "RefSeq": { "hgvs": "NP_001381484.1:p.Val262Phe" } } } }, { "coordinates": [ { "allele": "T", "end": 1178, "referenceAllele": "G", "start": 1177 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "ENST00000652607.1:c.784G>T" ], "proteinEffect": { "hgvs": "ENSP00000498332.1:p.Val262Phe", "hgvsWellDefined": "ENSP00000498332.1:p.Val262Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS772309" }, { "coordinates": [ { "allele": "T", "end": 806, "referenceAllele": "G", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "ENST00000248980.8:c.601G>T" ], "proteinEffect": { "hgvs": "ENSP00000248980.4:p.Val201Phe", "hgvsWellDefined": "ENSP00000248980.4:p.Val201Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS249589" }, { "coordinates": [ { "allele": "T", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "ENST00000248983.8:c.784G>T" ], "proteinEffect": { "hgvs": "ENSP00000248983.5:p.Val262Phe", "hgvsWellDefined": "ENSP00000248983.5:p.Val262Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS249590" }, { "coordinates": [ { "allele": "T", "end": 1720, "referenceAllele": "G", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "ENST00000400237.2:c.784G>T" ], "proteinEffect": { "hgvs": "ENSP00000383096.1:p.Val262Phe", "hgvsWellDefined": "ENSP00000383096.1:p.Val262Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS278959" }, { "coordinates": [ { "allele": "T", "end": 728, "referenceAllele": "G", "start": 727 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "ENST00000489846.1:n.728G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS327817" }, { "coordinates": [ { "allele": "A", "end": 32, "referenceAllele": "C", "start": 31 } ], "hgvs": [ "ENST00000623133.1:c.24C>A" ], "proteinEffect": { "hgvs": "ENSP00000485273.1:p.Asn8Lys", "hgvsWellDefined": "ENSP00000485273.1:p.Asn8Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS406001" }, { "coordinates": [ { "allele": "T", "end": 758, "referenceAllele": "G", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "ENST00000626996.2:c.*407G>T" ], "proteinEffect": { "hgvs": "ENSP00000486618.1:n.*407G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS406827" }, { "coordinates": [ { "allele": "T", "end": 752, "referenceAllele": "G", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "ENST00000628378.1:c.*407G>T" ], "proteinEffect": { "hgvs": "ENSP00000487290.1:n.*407G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS407033" }, { "coordinates": [ { "allele": "T", "end": 1720, "referenceAllele": "G", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001098527.2:c.784G>T" ], "proteinEffect": { "hgvs": "NP_001091997.2:p.Val262Phe", "hgvsWellDefined": "NP_001091997.2:p.Val262Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS010623" }, { "coordinates": [ { "allele": "T", "end": 762, "referenceAllele": "G", "start": 761 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001159545.1:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001153017.1:p.Val172Phe", "hgvsWellDefined": "NP_001153017.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS014040" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "G", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001159546.1:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001153018.1:p.Val172Phe", "hgvsWellDefined": "NP_001153018.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS014041" }, { "coordinates": [ { "allele": "T", "end": 806, "referenceAllele": "G", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_006605.3:c.601G>T" ], "proteinEffect": { "hgvs": "NP_006596.2:p.Val201Phe", "hgvsWellDefined": "NP_006596.2:p.Val201Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS031606" }, { "coordinates": [ { "allele": "T", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "XM_005261310.1:c.514G>T" ], "proteinEffect": { "hgvs": "XP_005261367.1:p.Val172Phe", "hgvsWellDefined": "XP_005261367.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS063086" }, { "coordinates": [ { "allele": "T", "end": 1924, "referenceAllele": "G", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "XM_011529826.1:c.898G>T" ], "proteinEffect": { "hgvs": "XP_011528128.1:p.Val300Phe", "hgvsWellDefined": "XP_011528128.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS096885" }, { "coordinates": [ { "allele": "T", "end": 1530, "referenceAllele": "G", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "XM_011529827.1:c.898G>T" ], "proteinEffect": { "hgvs": "XP_011528129.1:p.Val300Phe", "hgvsWellDefined": "XP_011528129.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS096886" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "G", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "XM_011529828.1:c.898G>T" ], "proteinEffect": { "hgvs": "XP_011528130.1:p.Val300Phe", "hgvsWellDefined": "XP_011528130.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS096887" }, { "coordinates": [ { "allele": "T", "end": 1828, "referenceAllele": "G", "start": 1827 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "XM_011529829.1:c.898G>T" ], "proteinEffect": { "hgvs": "XP_011528131.1:p.Val300Phe", "hgvsWellDefined": "XP_011528131.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS096888" }, { "coordinates": [ { "allele": "T", "end": 1164, "referenceAllele": "G", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "XM_011529830.1:c.898G>T" ], "proteinEffect": { "hgvs": "XP_011528132.1:p.Val300Phe", "hgvsWellDefined": "XP_011528132.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS096889" }, { "coordinates": [ { "allele": "T", "end": 1609, "referenceAllele": "G", "start": 1608 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "XM_011529831.1:c.898G>T" ], "proteinEffect": { "hgvs": "XP_011528133.1:p.Val300Phe", "hgvsWellDefined": "XP_011528133.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS096890" }, { "coordinates": [ { "allele": "T", "end": 1810, "referenceAllele": "G", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "XM_011529832.1:c.784G>T" ], "proteinEffect": { "hgvs": "XP_011528134.1:p.Val262Phe", "hgvsWellDefined": "XP_011528134.1:p.Val262Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS096891" }, { "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "G", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001159545.2:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001153017.1:p.Val172Phe", "hgvsWellDefined": "NP_001153017.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS511629" }, { "coordinates": [ { "allele": "T", "end": 934, "referenceAllele": "G", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001159546.2:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001153018.1:p.Val172Phe", "hgvsWellDefined": "NP_001153018.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS511630" }, { "coordinates": [ { "allele": "T", "end": 1048, "referenceAllele": "G", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001364982.1:c.580G>T" ], "proteinEffect": { "hgvs": "NP_001351911.1:p.Val194Phe", "hgvsWellDefined": "NP_001351911.1:p.Val194Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS523986" }, { "coordinates": [ { "allele": "T", "end": 1040, "referenceAllele": "G", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001364983.1:c.898G>T" ], "proteinEffect": { "hgvs": "NP_001351912.1:p.Val300Phe", "hgvsWellDefined": "NP_001351912.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS523987" }, { "coordinates": [ { "allele": "T", "end": 834, "referenceAllele": "G", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001364984.1:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001351913.1:p.Val172Phe", "hgvsWellDefined": "NP_001351913.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS523988" }, { "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "G", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001364985.1:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001351914.1:p.Val172Phe", "hgvsWellDefined": "NP_001351914.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS523989" }, { "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "G", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001364986.1:c.898G>T" ], "proteinEffect": { "hgvs": "NP_001351915.1:p.Val300Phe", "hgvsWellDefined": "NP_001351915.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS523990" }, { "coordinates": [ { "allele": "T", "end": 2208, "referenceAllele": "G", "start": 2207 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "XM_011529826.2:c.898G>T" ], "proteinEffect": { "hgvs": "XP_011528128.1:p.Val300Phe", "hgvsWellDefined": "XP_011528128.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS549674" }, { "coordinates": [ { "allele": "T", "end": 1098, "referenceAllele": "G", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "XM_011529827.3:c.898G>T" ], "proteinEffect": { "hgvs": "XP_011528129.1:p.Val300Phe", "hgvsWellDefined": "XP_011528129.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS549675" }, { "coordinates": [ { "allele": "T", "end": 2118, "referenceAllele": "G", "start": 2117 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "XM_011529828.2:c.898G>T" ], "proteinEffect": { "hgvs": "XP_011528130.1:p.Val300Phe", "hgvsWellDefined": "XP_011528130.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS549676" }, { "coordinates": [ { "allele": "T", "end": 2097, "referenceAllele": "G", "start": 2096 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "XM_011529832.2:c.784G>T" ], "proteinEffect": { "hgvs": "XP_011528134.1:p.Val262Phe", "hgvsWellDefined": "XP_011528134.1:p.Val262Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS549677" }, { "coordinates": [ { "allele": "T", "end": 1720, "referenceAllele": "G", "start": 1719 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001098527.3:c.784G>T" ], "proteinEffect": { "hgvs": "NP_001091997.2:p.Val262Phe", "hgvsWellDefined": "NP_001091997.2:p.Val262Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS676453" }, { "coordinates": [ { "allele": "T", "end": 1040, "referenceAllele": "G", "start": 1039 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001364983.2:c.898G>T" ], "proteinEffect": { "hgvs": "NP_001351912.1:p.Val300Phe", "hgvsWellDefined": "NP_001351912.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS720883" }, { "coordinates": [ { "allele": "T", "end": 834, "referenceAllele": "G", "start": 833 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001364984.2:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001351913.1:p.Val172Phe", "hgvsWellDefined": "NP_001351913.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS720884" }, { "coordinates": [ { "allele": "T", "end": 808, "referenceAllele": "G", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001364985.2:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001351914.1:p.Val172Phe", "hgvsWellDefined": "NP_001351914.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS720885" }, { "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "G", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001364986.2:c.898G>T" ], "proteinEffect": { "hgvs": "NP_001351915.1:p.Val300Phe", "hgvsWellDefined": "NP_001351915.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS720886" }, { "coordinates": [ { "allele": "T", "end": 1104, "referenceAllele": "G", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001159545.3:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001153017.1:p.Val172Phe", "hgvsWellDefined": "NP_001153017.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS781675" }, { "coordinates": [ { "allele": "T", "end": 1158, "referenceAllele": "G", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001159546.3:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001153018.1:p.Val172Phe", "hgvsWellDefined": "NP_001153018.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS781676" }, { "coordinates": [ { "allele": "T", "end": 1272, "referenceAllele": "G", "start": 1271 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001364982.2:c.580G>T" ], "proteinEffect": { "hgvs": "NP_001351911.1:p.Val194Phe", "hgvsWellDefined": "NP_001351911.1:p.Val194Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS781960" }, { "coordinates": [ { "allele": "T", "end": 1578, "referenceAllele": "G", "start": 1577 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001364983.3:c.898G>T" ], "proteinEffect": { "hgvs": "NP_001351912.1:p.Val300Phe", "hgvsWellDefined": "NP_001351912.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS781961" }, { "coordinates": [ { "allele": "T", "end": 1372, "referenceAllele": "G", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001364984.3:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001351913.1:p.Val172Phe", "hgvsWellDefined": "NP_001351913.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS781962" }, { "coordinates": [ { "allele": "T", "end": 1508, "referenceAllele": "G", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001364985.3:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001351914.1:p.Val172Phe", "hgvsWellDefined": "NP_001351914.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS781963" }, { "coordinates": [ { "allele": "T", "end": 1768, "referenceAllele": "G", "start": 1767 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001364986.3:c.898G>T" ], "proteinEffect": { "hgvs": "NP_001351915.1:p.Val300Phe", "hgvsWellDefined": "NP_001351915.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS781964" }, { "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "G", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001394554.1:c.898G>T" ], "proteinEffect": { "hgvs": "NP_001381483.1:p.Val300Phe", "hgvsWellDefined": "NP_001381483.1:p.Val300Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS782227" }, { "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "G", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001394555.1:c.784G>T" ], "proteinEffect": { "hgvs": "NP_001381484.1:p.Val262Phe", "hgvsWellDefined": "NP_001381484.1:p.Val262Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS782228", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000652607.2:c.784G>T" }, "RefSeq": { "hgvs": "NM_001394555.1:c.784G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000498332.1:p.Val262Phe" }, "RefSeq": { "hgvs": "NP_001381484.1:p.Val262Phe" } } } }, { "coordinates": [ { "allele": "T", "end": 1432, "referenceAllele": "G", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001394556.1:c.526G>T" ], "proteinEffect": { "hgvs": "NP_001381485.1:p.Val176Phe", "hgvsWellDefined": "NP_001381485.1:p.Val176Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS782229" }, { "coordinates": [ { "allele": "T", "end": 1318, "referenceAllele": "G", "start": 1317 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001394557.1:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001381486.1:p.Val172Phe", "hgvsWellDefined": "NP_001381486.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS782230" }, { "coordinates": [ { "allele": "T", "end": 1562, "referenceAllele": "G", "start": 1561 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001394558.1:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001381487.1:p.Val172Phe", "hgvsWellDefined": "NP_001381487.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS782231" }, { "coordinates": [ { "allele": "T", "end": 1628, "referenceAllele": "G", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN009979", "geneNCBI_id": 10739, "geneSymbol": "RFPL2", "hgvs": [ "NM_001394559.1:c.514G>T" ], "proteinEffect": { "hgvs": "NP_001381488.1:p.Val172Phe", "hgvsWellDefined": "NP_001381488.1:p.Val172Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS782232" } ], "type": "nucleotide" }