{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA118386", "communityStandardTitle": [ "NM_003659.4(AGPS):c.1256G>A (p.Arg419His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21684[alleleid]", "alleleId": 21684, "preferredName": "NM_003659.4(AGPS):c.1256G>A (p.Arg419His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6645", "RCV": [ "RCV000007024" ], "variationId": 6645 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.178357898G>A?assembly=hg19", "id": "chr2:g.178357898G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.177493170G>A?assembly=hg38", "id": "chr2:g.177493170G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/121434411", "rs": 121434411 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-178357898-G-A?dataset=gnomad_r2_1", "id": "2-178357898-G-A", "variant": "2:178357898 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/2-177493170-G-A?dataset=gnomad_r4", "id": "2-177493170-G-A", "variant": "2:177493170 G / A" } ] }, "genomicAlleles": [ { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 177493170, "referenceAllele": "G", "start": 177493169 } ], "hgvs": [ "NC_000002.12:g.177493170G>A", "CM000664.2:g.177493170G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000050" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 178357898, "referenceAllele": "G", "start": 178357897 } ], "hgvs": [ "NC_000002.11:g.178357898G>A", "CM000664.1:g.178357898G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000026" }, { "chromosome": "2", "coordinates": [ { "allele": "A", "end": 178066144, "referenceAllele": "G", "start": 178066143 } ], "hgvs": [ "NC_000002.10:g.178066144G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000002" }, { "coordinates": [ { "allele": "A", "end": 105428, "referenceAllele": "G", "start": 105427 } ], "hgvs": [ "NG_008968.1:g.105428G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001339" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1273, "referenceAllele": "G", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000264167.11:c.1256G>A" ], "proteinEffect": { "hgvs": "ENSP00000264167.4:p.Arg419His", "hgvsWellDefined": "ENSP00000264167.4:p.Arg419His" }, "referenceSequence": "http://reg.genome.network/refseq/RS742631", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264167.11:c.1256G>A" }, "RefSeq": { "hgvs": "NM_003659.4:c.1256G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264167.4:p.Arg419His" }, "RefSeq": { "hgvs": "NP_003650.1:p.Arg419His" } } } }, { "coordinates": [ { "allele": "A", "end": 1300, "referenceAllele": "G", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000637633.2:c.1256G>A" ], "proteinEffect": { "hgvs": "ENSP00000490844.2:p.Arg419His", "hgvsWellDefined": "ENSP00000490844.2:p.Arg419His" }, "referenceSequence": "http://reg.genome.network/refseq/RS764000" }, { "coordinates": [ { "allele": "A", "end": 1273, "referenceAllele": "G", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000642466.2:c.1256G>A" ], "proteinEffect": { "hgvs": "ENSP00000494433.2:p.Arg419His", "hgvsWellDefined": "ENSP00000494433.2:p.Arg419His" }, "referenceSequence": "http://reg.genome.network/refseq/RS766761" }, { "coordinates": [ { "allele": "A", "end": 2485, "referenceAllele": "G", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000679421.1:n.2485G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779052" }, { "coordinates": [ { "allele": "A", "end": 1300, "referenceAllele": "G", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000679459.1:c.1256G>A" ], "proteinEffect": { "hgvs": "ENSP00000506137.1:p.Arg419His", "hgvsWellDefined": "ENSP00000506137.1:p.Arg419His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779090" }, { "coordinates": [ { "allele": "A", "end": 1175, "referenceAllele": "G", "start": 1174 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000679478.1:c.986G>A" ], "proteinEffect": { "hgvs": "ENSP00000506484.1:p.Arg329His", "hgvsWellDefined": "ENSP00000506484.1:p.Arg329His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779109" }, { "coordinates": [ { "allele": "A", "end": 1257, "referenceAllele": "G", "start": 1256 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000679994.1:c.986G>A" ], "proteinEffect": { "hgvs": "ENSP00000504957.1:p.Arg329His", "hgvsWellDefined": "ENSP00000504957.1:p.Arg329His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779616" }, { "coordinates": [ { "allele": "A", "end": 2620, "referenceAllele": "G", "start": 2619 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680028.1:n.2620G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS779649" }, { "coordinates": [ { "allele": "A", "end": 1027, "referenceAllele": "G", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680155.1:c.986G>A" ], "proteinEffect": { "hgvs": "ENSP00000505333.1:p.Arg329His", "hgvsWellDefined": "ENSP00000505333.1:p.Arg329His" }, "referenceSequence": "http://reg.genome.network/refseq/RS779775" }, { "coordinates": [ { "allele": "A", "end": 291, "referenceAllele": "G", "start": 290 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680390.1:n.291G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780008" }, { "coordinates": [ { "allele": "A", "end": 1300, "referenceAllele": "G", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680705.1:n.1300G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780320" }, { "coordinates": [ { "allele": "A", "end": 1300, "referenceAllele": "G", "start": 1299 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680770.1:c.1256G>A" ], "proteinEffect": { "hgvs": "ENSP00000505536.1:p.Arg419His", "hgvsWellDefined": "ENSP00000505536.1:p.Arg419His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780385" }, { "coordinates": [ { "allele": "A", "end": 1290, "referenceAllele": "G", "start": 1289 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680893.1:c.*504G>A" ], "proteinEffect": { "hgvs": "ENSP00000505929.1:n.*504G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780507" }, { "coordinates": [ { "allele": "A", "end": 1286, "referenceAllele": "G", "start": 1285 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000680910.1:n.1286G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780524" }, { "coordinates": [ { "allele": "A", "end": 1059, "referenceAllele": "G", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681028.1:c.986G>A" ], "proteinEffect": { "hgvs": "ENSP00000506323.1:p.Arg329His", "hgvsWellDefined": "ENSP00000506323.1:p.Arg329His" }, "referenceSequence": "http://reg.genome.network/refseq/RS780641" }, { "coordinates": [ { "allele": "A", "end": 1402, "referenceAllele": "G", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681032.1:c.*634G>A" ], "proteinEffect": { "hgvs": "ENSP00000505205.1:n.*634G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS780645" }, { "coordinates": [ { "allele": "A", "end": 211, "referenceAllele": "G", "start": 210 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681300.1:n.211G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS780911" }, { "coordinates": [ { "allele": "A", "end": 1080, "referenceAllele": "G", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681449.1:c.986G>A" ], "proteinEffect": { "hgvs": "ENSP00000505342.1:p.Arg329His", "hgvsWellDefined": "ENSP00000505342.1:p.Arg329His" }, "referenceSequence": "http://reg.genome.network/refseq/RS781056" }, { "coordinates": [ { "allele": "A", "end": 1445, "referenceAllele": "G", "start": 1444 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681565.1:c.*389G>A" ], "proteinEffect": { "hgvs": "ENSP00000505620.1:n.*389G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS781171" }, { "coordinates": [ { "allele": "A", "end": 1438, "referenceAllele": "G", "start": 1437 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681752.1:c.*1026G>A" ], "proteinEffect": { "hgvs": "ENSP00000504994.1:n.*1026G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS781355" }, { "coordinates": [ { "allele": "A", "end": 4891, "referenceAllele": "G", "start": 4890 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000681891.1:n.4891G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS781491" }, { "coordinates": [ { "allele": "A", "end": 1402, "referenceAllele": "G", "start": 1401 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000264167.8:c.1256G>A" ], "proteinEffect": { "hgvs": "ENSP00000264167.4:p.Arg419His", "hgvsWellDefined": "ENSP00000264167.4:p.Arg419His" }, "referenceSequence": "http://reg.genome.network/refseq/RS251434" }, { "coordinates": [ { "allele": "A", "end": 372, "endIntronDirection": "-", "endIntronOffset": 28158, "referenceAllele": "G", "start": 372, "startIntronDirection": "-", "startIntronOffset": 28159 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "ENST00000409888.1:c.351-28159G>A" ], "proteinEffect": { "hgvs": "ENSP00000386688.1:n.351-28159G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS281937" }, { "@id": "http://reg.genome.network/allele/PA111487", "coordinates": [ { "allele": "A", "end": 1303, "referenceAllele": "G", "start": 1302 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "NM_003659.3:c.1256G>A" ], "proteinEffect": { "hgvs": "NP_003650.1:p.Arg419His", "hgvsWellDefined": "NP_003650.1:p.Arg419His" }, "referenceSequence": "http://reg.genome.network/refseq/RS028888" }, { "coordinates": [ { "allele": "A", "end": 1080, "referenceAllele": "G", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512041.1:c.986G>A" ], "proteinEffect": { "hgvs": "XP_011510343.1:p.Arg329His", "hgvsWellDefined": "XP_011510343.1:p.Arg329His" }, "referenceSequence": "http://reg.genome.network/refseq/RS079300" }, { "coordinates": [ { "allele": "A", "end": 1252, "referenceAllele": "G", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512042.1:c.986G>A" ], "proteinEffect": { "hgvs": "XP_011510344.1:p.Arg329His", "hgvsWellDefined": "XP_011510344.1:p.Arg329His" }, "referenceSequence": "http://reg.genome.network/refseq/RS079301" }, { "coordinates": [ { "allele": "A", "end": 805, "referenceAllele": "G", "start": 804 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512043.1:c.521G>A" ], "proteinEffect": { "hgvs": "XP_011510345.1:p.Arg174His", "hgvsWellDefined": "XP_011510345.1:p.Arg174His" }, "referenceSequence": "http://reg.genome.network/refseq/RS079302" }, { "coordinates": [ { "allele": "A", "end": 1085, "referenceAllele": "G", "start": 1084 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512041.2:c.986G>A" ], "proteinEffect": { "hgvs": "XP_011510343.1:p.Arg329His", "hgvsWellDefined": "XP_011510343.1:p.Arg329His" }, "referenceSequence": "http://reg.genome.network/refseq/RS542393" }, { "coordinates": [ { "allele": "A", "end": 1889, "referenceAllele": "G", "start": 1888 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XM_011512043.2:c.521G>A" ], "proteinEffect": { "hgvs": "XP_011510345.1:p.Arg174His", "hgvsWellDefined": "XP_011510345.1:p.Arg174His" }, "referenceSequence": "http://reg.genome.network/refseq/RS542394" }, { "coordinates": [ { "allele": "A", "end": 1164, "referenceAllele": "G", "start": 1163 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "XR_001739007.2:n.1164G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589420" }, { "@id": "http://reg.genome.network/allele/PA111487", "coordinates": [ { "allele": "A", "end": 1273, "referenceAllele": "G", "start": 1272 } ], "gene": "http://reg.genome.network/gene/GN000327", "geneNCBI_id": 8540, "geneSymbol": "AGPS", "hgvs": [ "NM_003659.4:c.1256G>A" ], "proteinEffect": { "hgvs": "NP_003650.1:p.Arg419His", "hgvsWellDefined": "NP_003650.1:p.Arg419His" }, "referenceSequence": "http://reg.genome.network/refseq/RS666124", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000264167.11:c.1256G>A" }, "RefSeq": { "hgvs": "NM_003659.4:c.1256G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000264167.4:p.Arg419His" }, "RefSeq": { "hgvs": "NP_003650.1:p.Arg419His" } } } } ], "type": "nucleotide" }