{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA130825", "communityStandardTitle": [ "NM_001318789.2(TLR2):c.2258G>A (p.Arg753Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49355[alleleid]", "alleleId": 49355, "preferredName": "NM_001318789.2(TLR2):c.2258G>A (p.Arg753Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40869", "RCV": [ "RCV000033853" ], "variationId": 40869 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/4-154626317-G-A", "id": "4-154626317-G-A", "variant": "4:154626317 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.154626317G>A?assembly=hg19", "id": "chr4:g.154626317G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.153705165G>A?assembly=hg38", "id": "chr4:g.153705165G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/5743708", "rs": 5743708 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-154626317-G-A?dataset=gnomad_r2_1", "id": "4-154626317-G-A", "variant": "4:154626317 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-153705165-G-A?dataset=gnomad_r3", "id": "4-153705165-G-A", "variant": "4:153705165 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-153705165-G-A?dataset=gnomad_r4", "id": "4-153705165-G-A", "variant": "4:153705165 G / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 153705165, "referenceAllele": "G", "start": 153705164 } ], "hgvs": [ "NC_000004.12:g.153705165G>A", "CM000666.2:g.153705165G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 154626317, "referenceAllele": "G", "start": 154626316 } ], "hgvs": [ "NC_000004.11:g.154626317G>A", "CM000666.1:g.154626317G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 154845767, "referenceAllele": "G", "start": 154845766 } ], "hgvs": [ "NC_000004.10:g.154845767G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 25877, "referenceAllele": "G", "start": 25876 } ], "hgvs": [ "NG_016229.1:g.25877G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003033" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2711, "referenceAllele": "G", "start": 2710 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "ENST00000643501.2:c.2258G>A" ], "proteinEffect": { "hgvs": "ENSP00000496208.2:p.Arg753Gln", "hgvsWellDefined": "ENSP00000496208.2:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914409" }, { "coordinates": [ { "allele": "A", "end": 2804, "referenceAllele": "G", "start": 2803 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "ENST00000646219.2:c.2258G>A" ], "proteinEffect": { "hgvs": "ENSP00000496676.2:p.Arg753Gln", "hgvsWellDefined": "ENSP00000496676.2:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914419" }, { "coordinates": [ { "allele": "A", "end": 2696, "referenceAllele": "G", "start": 2695 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "ENST00000646900.2:c.2258G>A" ], "proteinEffect": { "hgvs": "ENSP00000493968.2:p.Arg753Gln", "hgvsWellDefined": "ENSP00000493968.2:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS914424" }, { "coordinates": [ { "allele": "A", "end": 2442, "referenceAllele": "G", "start": 2441 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "ENST00000642580.1:c.2258G>A" ], "proteinEffect": { "hgvs": "ENSP00000495339.1:p.Arg753Gln", "hgvsWellDefined": "ENSP00000495339.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS766822" }, { "coordinates": [ { "allele": "A", "end": 2501, "referenceAllele": "G", "start": 2500 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "ENST00000642700.2:c.2258G>A" ], "proteinEffect": { "hgvs": "ENSP00000494425.1:p.Arg753Gln", "hgvsWellDefined": "ENSP00000494425.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS766884", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642700.2:c.2258G>A" }, "RefSeq": { "hgvs": "NM_001318789.2:c.2258G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494425.1:p.Arg753Gln" }, "RefSeq": { "hgvs": "NP_001305718.1:p.Arg753Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 536, "referenceAllele": "G", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "ENST00000643087.1:c.536G>A" ], "proteinEffect": { "hgvs": "ENSP00000494668.1:p.Arg179Gln", "hgvsWellDefined": "ENSP00000494668.1:p.Arg179Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS767082" }, { "coordinates": [ { "allele": "A", "end": 3666, "referenceAllele": "G", "start": 3665 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "ENST00000260010.6:c.2258G>A" ], "proteinEffect": { "hgvs": "ENSP00000260010.6:p.Arg753Gln", "hgvsWellDefined": "ENSP00000260010.6:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS250542" }, { "@id": "http://reg.genome.network/allele/PA130826", "coordinates": [ { "allele": "A", "end": 2477, "referenceAllele": "G", "start": 2476 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_003264.3:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_003255.2:p.Arg753Gln", "hgvsWellDefined": "NP_003255.2:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS028517" }, { "coordinates": [ { "allele": "A", "end": 2558, "referenceAllele": "G", "start": 2557 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "XM_005263193.2:c.2258G>A" ], "proteinEffect": { "hgvs": "XP_005263250.1:p.Arg753Gln", "hgvsWellDefined": "XP_005263250.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS063706" }, { "coordinates": [ { "allele": "A", "end": 2503, "referenceAllele": "G", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "XM_005263194.2:c.2258G>A" ], "proteinEffect": { "hgvs": "XP_005263251.1:p.Arg753Gln", "hgvsWellDefined": "XP_005263251.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS063707" }, { "coordinates": [ { "allele": "A", "end": 2448, "referenceAllele": "G", "start": 2447 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "XM_005263195.2:c.2258G>A" ], "proteinEffect": { "hgvs": "XP_005263252.1:p.Arg753Gln", "hgvsWellDefined": "XP_005263252.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS063708" }, { "coordinates": [ { "allele": "A", "end": 2490, "referenceAllele": "G", "start": 2489 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "XM_005263196.2:c.2258G>A" ], "proteinEffect": { "hgvs": "XP_005263253.1:p.Arg753Gln", "hgvsWellDefined": "XP_005263253.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS063709" }, { "coordinates": [ { "allele": "A", "end": 2466, "referenceAllele": "G", "start": 2465 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "XM_005263197.2:c.2258G>A" ], "proteinEffect": { "hgvs": "XP_005263254.1:p.Arg753Gln", "hgvsWellDefined": "XP_005263254.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS063710" }, { "coordinates": [ { "allele": "A", "end": 2425, "referenceAllele": "G", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "XM_011532215.1:c.2258G>A" ], "proteinEffect": { "hgvs": "XP_011530517.1:p.Arg753Gln", "hgvsWellDefined": "XP_011530517.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS099243" }, { "coordinates": [ { "allele": "A", "end": 2373, "referenceAllele": "G", "start": 2372 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "XM_011532216.1:c.2258G>A" ], "proteinEffect": { "hgvs": "XP_011530518.1:p.Arg753Gln", "hgvsWellDefined": "XP_011530518.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS099244" }, { "@id": "http://reg.genome.network/allele/PA2826998470", "coordinates": [ { "allele": "A", "end": 2739, "referenceAllele": "G", "start": 2738 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_001318787.1:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_001305716.1:p.Arg753Gln", "hgvsWellDefined": "NP_001305716.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS513023" }, { "@id": "http://reg.genome.network/allele/PA2826998549", "coordinates": [ { "allele": "A", "end": 2529, "referenceAllele": "G", "start": 2528 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_001318789.1:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_001305718.1:p.Arg753Gln", "hgvsWellDefined": "NP_001305718.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS513025" }, { "@id": "http://reg.genome.network/allele/PA2826998613", "coordinates": [ { "allele": "A", "end": 2506, "referenceAllele": "G", "start": 2505 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_001318790.1:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_001305719.1:p.Arg753Gln", "hgvsWellDefined": "NP_001305719.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS513026" }, { "@id": "http://reg.genome.network/allele/PA2826998677", "coordinates": [ { "allele": "A", "end": 2495, "referenceAllele": "G", "start": 2494 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_001318791.1:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_001305720.1:p.Arg753Gln", "hgvsWellDefined": "NP_001305720.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS513027" }, { "@id": "http://reg.genome.network/allele/PA2826998778", "coordinates": [ { "allele": "A", "end": 2491, "referenceAllele": "G", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_001318793.1:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_001305722.1:p.Arg753Gln", "hgvsWellDefined": "NP_001305722.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS513029" }, { "@id": "http://reg.genome.network/allele/PA2826998856", "coordinates": [ { "allele": "A", "end": 2470, "referenceAllele": "G", "start": 2469 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_001318795.1:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_001305724.1:p.Arg753Gln", "hgvsWellDefined": "NP_001305724.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS513031" }, { "@id": "http://reg.genome.network/allele/PA2826998920", "coordinates": [ { "allele": "A", "end": 2455, "referenceAllele": "G", "start": 2454 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_001318796.1:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_001305725.1:p.Arg753Gln", "hgvsWellDefined": "NP_001305725.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS513032" }, { "@id": "http://reg.genome.network/allele/PA130826", "coordinates": [ { "allele": "A", "end": 2514, "referenceAllele": "G", "start": 2513 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_003264.4:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_003255.2:p.Arg753Gln", "hgvsWellDefined": "NP_003255.2:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS525080" }, { "coordinates": [ { "allele": "A", "end": 2439, "referenceAllele": "G", "start": 2438 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "XM_011532215.2:c.2258G>A" ], "proteinEffect": { "hgvs": "XP_011530517.1:p.Arg753Gln", "hgvsWellDefined": "XP_011530517.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS550734" }, { "coordinates": [ { "allele": "A", "end": 2386, "referenceAllele": "G", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "XM_011532216.2:c.2258G>A" ], "proteinEffect": { "hgvs": "XP_011530518.1:p.Arg753Gln", "hgvsWellDefined": "XP_011530518.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS550735" }, { "coordinates": [ { "allele": "A", "end": 2985, "referenceAllele": "G", "start": 2984 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "XM_017008573.1:c.2258G>A" ], "proteinEffect": { "hgvs": "XP_016864062.1:p.Arg753Gln", "hgvsWellDefined": "XP_016864062.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS563055" }, { "coordinates": [ { "allele": "A", "end": 2667, "referenceAllele": "G", "start": 2666 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "XM_017008574.1:c.2258G>A" ], "proteinEffect": { "hgvs": "XP_016864063.1:p.Arg753Gln", "hgvsWellDefined": "XP_016864063.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS563056" }, { "coordinates": [ { "allele": "A", "end": 2711, "referenceAllele": "G", "start": 2710 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "XM_017008575.1:c.2258G>A" ], "proteinEffect": { "hgvs": "XP_016864064.1:p.Arg753Gln", "hgvsWellDefined": "XP_016864064.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS563057" }, { "coordinates": [ { "allele": "A", "end": 3285, "referenceAllele": "G", "start": 3284 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "XM_017008576.1:c.2258G>A" ], "proteinEffect": { "hgvs": "XP_016864065.1:p.Arg753Gln", "hgvsWellDefined": "XP_016864065.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS563058" }, { "@id": "http://reg.genome.network/allele/PA2826998470", "coordinates": [ { "allele": "A", "end": 2711, "referenceAllele": "G", "start": 2710 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_001318787.2:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_001305716.1:p.Arg753Gln", "hgvsWellDefined": "NP_001305716.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS684600" }, { "@id": "http://reg.genome.network/allele/PA2826998549", "coordinates": [ { "allele": "A", "end": 2501, "referenceAllele": "G", "start": 2500 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_001318789.2:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_001305718.1:p.Arg753Gln", "hgvsWellDefined": "NP_001305718.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS684602", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642700.2:c.2258G>A" }, "RefSeq": { "hgvs": "NM_001318789.2:c.2258G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000494425.1:p.Arg753Gln" }, "RefSeq": { "hgvs": "NP_001305718.1:p.Arg753Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2826998613", "coordinates": [ { "allele": "A", "end": 2478, "referenceAllele": "G", "start": 2477 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_001318790.2:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_001305719.1:p.Arg753Gln", "hgvsWellDefined": "NP_001305719.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS684603" }, { "@id": "http://reg.genome.network/allele/PA2826998677", "coordinates": [ { "allele": "A", "end": 2467, "referenceAllele": "G", "start": 2466 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_001318791.2:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_001305720.1:p.Arg753Gln", "hgvsWellDefined": "NP_001305720.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS684604" }, { "@id": "http://reg.genome.network/allele/PA2826998778", "coordinates": [ { "allele": "A", "end": 2463, "referenceAllele": "G", "start": 2462 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_001318793.2:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_001305722.1:p.Arg753Gln", "hgvsWellDefined": "NP_001305722.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS684605" }, { "@id": "http://reg.genome.network/allele/PA2826998856", "coordinates": [ { "allele": "A", "end": 2442, "referenceAllele": "G", "start": 2441 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_001318795.2:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_001305724.1:p.Arg753Gln", "hgvsWellDefined": "NP_001305724.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS684607" }, { "@id": "http://reg.genome.network/allele/PA2826998920", "coordinates": [ { "allele": "A", "end": 2427, "referenceAllele": "G", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_001318796.2:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_001305725.1:p.Arg753Gln", "hgvsWellDefined": "NP_001305725.1:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS684608" }, { "@id": "http://reg.genome.network/allele/PA130826", "coordinates": [ { "allele": "A", "end": 2486, "referenceAllele": "G", "start": 2485 } ], "gene": "http://reg.genome.network/gene/GN011848", "geneNCBI_id": 7097, "geneSymbol": "TLR2", "hgvs": [ "NM_003264.5:c.2258G>A" ], "proteinEffect": { "hgvs": "NP_003255.2:p.Arg753Gln", "hgvsWellDefined": "NP_003255.2:p.Arg753Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS695770" } ], "type": "nucleotide" }