{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393753111", "communityStandardTitle": [ "NM_002693.3(POLG):c.2789A>G (p.Asp930Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2886064[alleleid]", "alleleId": 2886064, "preferredName": "NM_002693.3(POLG):c.2789A>G (p.Asp930Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2726874", "RCV": [ "RCV003514205" ], "variationId": 2726874 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89864189T>C?assembly=hg19", "id": "chr15:g.89864189T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.89320958T>C?assembly=hg38", "id": "chr15:g.89320958T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2509217554", "rs": 2509217554 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-89320958-T-C?dataset=gnomad_r4", "id": "15-89320958-T-C", "variant": "15:89320958 T / C" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 89320958, "referenceAllele": "T", "start": 89320957 } ], "hgvs": [ "NC_000015.10:g.89320958T>C", "CM000677.2:g.89320958T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 89864189, "referenceAllele": "T", "start": 89864188 } ], "hgvs": [ "NC_000015.9:g.89864189T>C", "CM000677.1:g.89864189T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "C", "end": 87665193, "referenceAllele": "T", "start": 87665192 } ], "hgvs": [ "NC_000015.8:g.87665193T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "G", "end": 18838, "referenceAllele": "A", "start": 18837 } ], "hgvs": [ "NG_008218.1:g.18838A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000956" }, { "coordinates": [ { "allele": "G", "end": 18838, "referenceAllele": "A", "start": 18837 } ], "hgvs": [ "NG_008218.2:g.18838A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS616096" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 3733, "referenceAllele": "A", "start": 3732 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636937.2:c.2789A>G" ], "proteinEffect": { "hgvs": "ENSP00000516154.1:p.Asp930Gly", "hgvsWellDefined": "ENSP00000516154.1:p.Asp930Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS906362" }, { "coordinates": [ { "allele": "G", "end": 3100, "referenceAllele": "A", "start": 3099 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.11:c.2789A>G" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Asp930Gly", "hgvsWellDefined": "ENSP00000268124.5:p.Asp930Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS743029", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.2789A>G" }, "RefSeq": { "hgvs": "NM_002693.3:c.2789A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Asp930Gly" }, "RefSeq": { "hgvs": "NP_002684.1:p.Asp930Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 2390, "referenceAllele": "A", "start": 2389 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530292.3:c.2390A>G" ], "proteinEffect": { "hgvs": "ENSP00000432885.2:p.Asp797Gly", "hgvsWellDefined": "ENSP00000432885.2:p.Asp797Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS759172" }, { "coordinates": [ { "allele": "G", "end": 2987, "referenceAllele": "A", "start": 2986 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000635986.2:c.2789A>G" ], "proteinEffect": { "hgvs": "ENSP00000490653.2:p.Asp930Gly", "hgvsWellDefined": "ENSP00000490653.2:p.Asp930Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS762785" }, { "coordinates": [ { "allele": "G", "end": 3116, "referenceAllele": "A", "start": 3115 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000636774.1:c.*1356A>G" ], "proteinEffect": { "hgvs": "ENSP00000489799.1:n.*1356A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS763370" }, { "coordinates": [ { "allele": "G", "end": 1598, "referenceAllele": "A", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637238.1:c.1598A>G" ], "proteinEffect": { "hgvs": "ENSP00000490756.1:n.1598A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS763718" }, { "coordinates": [ { "allele": "G", "end": 1861, "referenceAllele": "A", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000637264.1:c.1861A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763738" }, { "coordinates": [ { "allele": "G", "end": 2366, "referenceAllele": "A", "start": 2365 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000666746.1:c.2366A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS772952" }, { "coordinates": [ { "allele": "G", "end": 800, "endIntronDirection": "+", "endIntronOffset": 1004, "referenceAllele": "A", "start": 800, "startIntronDirection": "+", "startIntronOffset": 1003 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000670281.1:c.800+1004A>G" ], "proteinEffect": { "hgvs": "ENSP00000499709.1:n.800+1004A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773095" }, { "coordinates": [ { "allele": "G", "end": 2987, "referenceAllele": "A", "start": 2986 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672071.1:n.2987A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773259" }, { "coordinates": [ { "allele": "G", "end": 2731, "referenceAllele": "A", "start": 2730 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000672923.2:n.2731A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773544" }, { "coordinates": [ { "allele": "G", "end": 3123, "referenceAllele": "A", "start": 3122 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000268124.9:c.2789A>G" ], "proteinEffect": { "hgvs": "ENSP00000268124.5:p.Asp930Gly", "hgvsWellDefined": "ENSP00000268124.5:p.Asp930Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS252051" }, { "coordinates": [ { "allele": "G", "end": 3125, "referenceAllele": "A", "start": 3124 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000442287.6:c.2789A>G" ], "proteinEffect": { "hgvs": "ENSP00000399851.2:p.Asp930Gly", "hgvsWellDefined": "ENSP00000399851.2:p.Asp930Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS296812" }, { "coordinates": [ { "allele": "G", "end": 386, "referenceAllele": "A", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000528881.2:c.386A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS354351" }, { "coordinates": [ { "allele": "G", "end": 185, "endIntronDirection": "-", "endIntronOffset": 88, "referenceAllele": "A", "start": 185, "startIntronDirection": "-", "startIntronOffset": 89 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000530715.5:c.186-89A>G" ], "proteinEffect": { "hgvs": "ENSP00000431395.1:n.186-89A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS355923" }, { "coordinates": [ { "allele": "G", "end": 3291, "referenceAllele": "A", "start": 3290 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "ENST00000631044.2:c.*2213A>G" ], "proteinEffect": { "hgvs": "ENSP00000486730.1:n.*2213A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS407466" }, { "@id": "http://reg.genome.network/allele/PA2825621994", "coordinates": [ { "allele": "G", "end": 3059, "referenceAllele": "A", "start": 3058 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.1:c.2789A>G" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Asp930Gly", "hgvsWellDefined": "NP_001119603.1:p.Asp930Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS011503" }, { "@id": "http://reg.genome.network/allele/PA2741894056", "coordinates": [ { "allele": "G", "end": 3071, "referenceAllele": "A", "start": 3070 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.2:c.2789A>G" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Asp930Gly", "hgvsWellDefined": "NP_002684.1:p.Asp930Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS027982" }, { "@id": "http://reg.genome.network/allele/PA2825621994", "coordinates": [ { "allele": "G", "end": 3088, "referenceAllele": "A", "start": 3087 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_001126131.2:c.2789A>G" ], "proteinEffect": { "hgvs": "NP_001119603.1:p.Asp930Gly", "hgvsWellDefined": "NP_001119603.1:p.Asp930Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS676825" }, { "@id": "http://reg.genome.network/allele/PA2741894056", "coordinates": [ { "allele": "G", "end": 3100, "referenceAllele": "A", "start": 3099 } ], "gene": "http://reg.genome.network/gene/GN009179", "geneNCBI_id": 5428, "geneSymbol": "POLG", "hgvs": [ "NM_002693.3:c.2789A>G" ], "proteinEffect": { "hgvs": "NP_002684.1:p.Asp930Gly", "hgvsWellDefined": "NP_002684.1:p.Asp930Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS727303", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268124.11:c.2789A>G" }, "RefSeq": { "hgvs": "NM_002693.3:c.2789A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268124.5:p.Asp930Gly" }, "RefSeq": { "hgvs": "NP_002684.1:p.Asp930Gly" } } } } ], "type": "nucleotide" }