{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA274547255", "communityStandardTitle": [ "NM_002693.3(POLG):c.2566G>A (p.Glu856Lys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1021381[alleleid]", "alleleId": 1021381, "preferredName": "NM_002693.3(POLG):c.2566G>A (p.Glu856Lys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1033944", "RCV": [ "RCV001336496", "RCV002466665" ], "variationId": 1033944 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89864999C>T?assembly=hg19", "id": "chr15:g.89864999C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89321768C>T?assembly=hg38", "id": "chr15:g.89321768C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1032930719", "rs": 1032930719 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89321768-C-T?dataset=gnomad_r3", "id": "15-89321768-C-T", "variant": "15:89321768 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89321768-C-T?dataset=gnomad_r4", "id": "15-89321768-C-T", "variant": "15:89321768 C / T" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89321768, "referenceAllele": "C", "start": 89321767 } ], "hgvs": [ "NC_000015.10:g.89321768C>T", "CM000677.2:g.89321768C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 89864999, "referenceAllele": "C", "start": 89864998 } ], "hgvs": [ "NC_000015.9:g.89864999C>T", "CM000677.1:g.89864999C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 87666003, "referenceAllele": "C", "start": 87666002 } ], "hgvs": [ "NC_000015.8:g.87666003C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 18028, "referenceAllele": "G", "start": 18027 } ], "hgvs": [ "NG_008218.1:g.18028G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000956" }, { "coordinates": [ { "allele": "A", "end": 18028, "referenceAllele": "G", "start": 18027 } ], "hgvs": [ "NG_008218.2:g.18028G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616096" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3510, "referenceAllele": "G", "start": 3509 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636937.2:c.2566G>A" ], "proteinEffect": { "hgvs": "ENSP00000516154.1:p.Glu856Lys", "hgvsWellDefined": "ENSP00000516154.1:p.Glu856Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS906362" }, { "coordinates": [ { "allele": "A", "end": 2877, "referenceAllele": "G", "start": 2876 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.11:c.2566G>A" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Glu856Lys", "hgvsWellDefined": "ENSP00000268124.5:p.Glu856Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS743029", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.2566G>A" }, "RefSeq": { "hgvs": "NM_002693.3:c.2566G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Glu856Lys" }, "RefSeq": { "hgvs": "NP_002684.1:p.Glu856Lys" } } } }, { "coordinates": [ { "allele": "A", "end": 2167, "referenceAllele": "G", "start": 2166 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.3:c.2167G>A" ], "proteinEffect": { "hgvs": "ENSP00000432885.2:p.Glu723Lys", "hgvsWellDefined": "ENSP00000432885.2:p.Glu723Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS759172" }, { "coordinates": [ { "allele": "A", "end": 2764, "referenceAllele": "G", "start": 2763 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000635986.2:c.2566G>A" ], "proteinEffect": { "hgvs": "ENSP00000490653.2:p.Glu856Lys", "hgvsWellDefined": "ENSP00000490653.2:p.Glu856Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS762785" }, { "coordinates": [ { "allele": "A", "end": 2893, "referenceAllele": "G", "start": 2892 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636774.1:c.*1133G>A" ], "proteinEffect": { "hgvs": "ENSP00000489799.1:n.*1133G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763370" }, { "coordinates": [ { "allele": "A", "end": 1263, "referenceAllele": "G", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637238.1:c.1263G>A" ], "proteinEffect": { "hgvs": "ENSP00000490756.1:n.1263G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS763718" }, { "coordinates": [ { "allele": "A", "end": 1638, "referenceAllele": "G", "start": 1637 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637264.1:c.1638G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS763738" }, { "coordinates": [ { "allele": "A", "end": 2143, "referenceAllele": "G", "start": 2142 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000666746.1:c.2143G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772952" }, { "coordinates": [ { "allele": "A", "end": 800, "endIntronDirection": "+", "endIntronOffset": 194, "referenceAllele": "G", "start": 800, "startIntronDirection": "+", "startIntronOffset": 193 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000670281.1:c.800+194G>A" ], "proteinEffect": { "hgvs": "ENSP00000499709.1:n.800+194G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773095" }, { "coordinates": [ { "allele": "A", "end": 2764, "referenceAllele": "G", "start": 2763 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672071.1:n.2764G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773259" }, { "coordinates": [ { "allele": "A", "end": 2508, "referenceAllele": "G", "start": 2507 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672923.2:n.2508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773544" }, { "coordinates": [ { "allele": "A", "end": 2900, "referenceAllele": "G", "start": 2899 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.9:c.2566G>A" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Glu856Lys", "hgvsWellDefined": "ENSP00000268124.5:p.Glu856Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS252051" }, { "coordinates": [ { "allele": "A", "end": 2902, "referenceAllele": "G", "start": 2901 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000442287.6:c.2566G>A" ], "proteinEffect": { "hgvs": "ENSP00000399851.2:p.Glu856Lys", "hgvsWellDefined": "ENSP00000399851.2:p.Glu856Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS296812" }, { "coordinates": [ { "allele": "A", "end": 195, "endIntronDirection": "-", "endIntronOffset": 507, "referenceAllele": "G", "start": 195, "startIntronDirection": "-", "startIntronOffset": 508 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000528881.2:c.196-508G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS354351" }, { "coordinates": [ { "allele": "A", "end": 185, "endIntronDirection": "-", "endIntronOffset": 898, "referenceAllele": "G", "start": 185, "startIntronDirection": "-", "startIntronOffset": 899 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530715.5:c.186-899G>A" ], "proteinEffect": { "hgvs": "ENSP00000431395.1:n.186-899G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS355923" }, { "coordinates": [ { "allele": "A", "end": 3068, "referenceAllele": "G", "start": 3067 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000631044.2:c.*1990G>A" ], "proteinEffect": { "hgvs": "ENSP00000486730.1:n.*1990G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407466" }, { "@id": "http://reg.genome.network/allele/PA2825621827", "coordinates": [ { "allele": "A", "end": 2836, "referenceAllele": "G", "start": 2835 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.1:c.2566G>A" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Glu856Lys", "hgvsWellDefined": "NP_001119603.1:p.Glu856Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011503" }, { "@id": "http://reg.genome.network/allele/PA2499262345", "coordinates": [ { "allele": "A", "end": 2848, "referenceAllele": "G", "start": 2847 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.2:c.2566G>A" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Glu856Lys", "hgvsWellDefined": "NP_002684.1:p.Glu856Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS027982" }, { "@id": "http://reg.genome.network/allele/PA2825621827", "coordinates": [ { "allele": "A", "end": 2865, "referenceAllele": "G", "start": 2864 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.2:c.2566G>A" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Glu856Lys", "hgvsWellDefined": "NP_001119603.1:p.Glu856Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676825" }, { "@id": "http://reg.genome.network/allele/PA2499262345", "coordinates": [ { "allele": "A", "end": 2877, "referenceAllele": "G", "start": 2876 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.3:c.2566G>A" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Glu856Lys", "hgvsWellDefined": "NP_002684.1:p.Glu856Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS727303", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.2566G>A" }, "RefSeq": { "hgvs": "NM_002693.3:c.2566G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Glu856Lys" }, "RefSeq": { "hgvs": "NP_002684.1:p.Glu856Lys" } } } } ], "type": "nucleotide" }