{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA362171672", "communityStandardTitle": [ "NM_001371727.1(GABRB2):c.740T>C (p.Leu247Pro)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1863324[alleleid]", "alleleId": 1863324, "preferredName": "NM_001371727.1(GABRB2):c.740T>C (p.Leu247Pro)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1806314", "RCV": [ "RCV002470598" ], "variationId": 1806314 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.160761851A>G?assembly=hg19", "id": "chr5:g.160761851A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.161334844A>G?assembly=hg38", "id": "chr5:g.161334844A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2546558249", "rs": 2546558249 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 161334844, "referenceAllele": "A", "start": 161334843 } ], "hgvs": [ "NC_000005.10:g.161334844A>G", "CM000667.2:g.161334844A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 160761851, "referenceAllele": "A", "start": 160761850 } ], "hgvs": [ "NC_000005.9:g.160761851A>G", "CM000667.1:g.160761851A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "G", "end": 160694429, "referenceAllele": "A", "start": 160694428 } ], "hgvs": [ "NC_000005.8:g.160694429A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "C", "end": 218281, "referenceAllele": "T", "start": 218280 } ], "hgvs": [ "NG_047050.1:g.218281T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS616577" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 916, "referenceAllele": "T", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000274547.7:c.740T>C" ], "proteinEffect": { "hgvs": "ENSP00000274547.2:p.Leu247Pro", "hgvsWellDefined": "ENSP00000274547.2:p.Leu247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS743354" }, { "coordinates": [ { "allele": "C", "end": 822, "referenceAllele": "T", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000393959.6:c.740T>C" ], "proteinEffect": { "hgvs": "ENSP00000377531.1:p.Leu247Pro", "hgvsWellDefined": "ENSP00000377531.1:p.Leu247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS753196", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393959.6:c.740T>C" }, "RefSeq": { "hgvs": "NM_001371727.1:c.740T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377531.1:p.Leu247Pro" }, "RefSeq": { "hgvs": "NP_001358656.1:p.Leu247Pro" } } } }, { "coordinates": [ { "allele": "C", "end": 822, "referenceAllele": "T", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000674514.1:n.822T>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS774471" }, { "coordinates": [ { "allele": "C", "end": 656, "referenceAllele": "T", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000675081.1:c.*199T>C" ], "proteinEffect": { "hgvs": "ENSP00000502207.1:n.*199T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS774950" }, { "coordinates": [ { "allele": "C", "end": 1036, "referenceAllele": "T", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000675303.1:c.740T>C" ], "proteinEffect": { "hgvs": "ENSP00000502748.1:p.Leu247Pro", "hgvsWellDefined": "ENSP00000502748.1:p.Leu247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS775140" }, { "coordinates": [ { "allele": "C", "end": 672, "referenceAllele": "T", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000675381.1:c.488T>C" ], "proteinEffect": { "hgvs": "ENSP00000501968.1:p.Leu163Pro", "hgvsWellDefined": "ENSP00000501968.1:p.Leu163Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS775211" }, { "coordinates": [ { "allele": "C", "end": 611, "referenceAllele": "T", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000675746.1:c.-11T>C" ], "proteinEffect": { "hgvs": "ENSP00000502391.1:n.-11T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS775524" }, { "coordinates": [ { "allele": "C", "end": 1208, "referenceAllele": "T", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000675773.1:c.740T>C" ], "proteinEffect": { "hgvs": "ENSP00000502701.1:p.Leu247Pro", "hgvsWellDefined": "ENSP00000502701.1:p.Leu247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS775545" }, { "coordinates": [ { "allele": "C", "end": 958, "referenceAllele": "T", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000274547.6:c.740T>C" ], "proteinEffect": { "hgvs": "ENSP00000274547.2:p.Leu247Pro", "hgvsWellDefined": "ENSP00000274547.2:p.Leu247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS252554" }, { "coordinates": [ { "allele": "C", "end": 1061, "referenceAllele": "T", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000353437.10:c.740T>C" ], "proteinEffect": { "hgvs": "ENSP00000274546.6:p.Leu247Pro", "hgvsWellDefined": "ENSP00000274546.6:p.Leu247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS262968" }, { "coordinates": [ { "allele": "C", "end": 740, "referenceAllele": "T", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000393959.5:c.740T>C" ], "proteinEffect": { "hgvs": "ENSP00000377531.1:p.Leu247Pro", "hgvsWellDefined": "ENSP00000377531.1:p.Leu247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS275899" }, { "coordinates": [ { "allele": "C", "end": 481, "referenceAllele": "T", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000517547.5:c.260T>C" ], "proteinEffect": { "hgvs": "ENSP00000429750.1:p.Leu87Pro", "hgvsWellDefined": "ENSP00000429750.1:p.Leu87Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS345206" }, { "coordinates": [ { "allele": "C", "end": 877, "referenceAllele": "T", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000517901.5:c.551T>C" ], "proteinEffect": { "hgvs": "ENSP00000430532.1:p.Leu184Pro", "hgvsWellDefined": "ENSP00000430532.1:p.Leu184Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS345475" }, { "coordinates": [ { "allele": "C", "end": 1128, "referenceAllele": "T", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000520240.5:c.740T>C" ], "proteinEffect": { "hgvs": "ENSP00000429320.1:p.Leu247Pro", "hgvsWellDefined": "ENSP00000429320.1:p.Leu247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS347321" }, { "coordinates": [ { "allele": "C", "end": 684, "referenceAllele": "T", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "ENST00000612710.1:c.551T>C" ], "proteinEffect": { "hgvs": "ENSP00000480066.1:p.Leu184Pro", "hgvsWellDefined": "ENSP00000480066.1:p.Leu184Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS401424" }, { "@id": "http://reg.genome.network/allele/PA2825224134", "coordinates": [ { "allele": "C", "end": 958, "referenceAllele": "T", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "NM_000813.2:c.740T>C" ], "proteinEffect": { "hgvs": "NP_000804.1:p.Leu247Pro", "hgvsWellDefined": "NP_000804.1:p.Leu247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS006842" }, { "@id": "http://reg.genome.network/allele/PA2580430996", "coordinates": [ { "allele": "C", "end": 958, "referenceAllele": "T", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "NM_021911.2:c.740T>C" ], "proteinEffect": { "hgvs": "NP_068711.1:p.Leu247Pro", "hgvsWellDefined": "NP_068711.1:p.Leu247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS037067" }, { "coordinates": [ { "allele": "C", "end": 336, "referenceAllele": "T", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "XM_011534501.1:c.-11T>C" ], "proteinEffect": { "hgvs": "XP_011532803.1:n.-11T>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS101519" }, { "@id": "http://reg.genome.network/allele/PA2825224134", "coordinates": [ { "allele": "C", "end": 1238, "referenceAllele": "T", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "NM_000813.3:c.740T>C" ], "proteinEffect": { "hgvs": "NP_000804.1:p.Leu247Pro", "hgvsWellDefined": "NP_000804.1:p.Leu247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS674957" }, { "@id": "http://reg.genome.network/allele/PA2828450387", "coordinates": [ { "allele": "C", "end": 822, "referenceAllele": "T", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "NM_001371727.1:c.740T>C" ], "proteinEffect": { "hgvs": "NP_001358656.1:p.Leu247Pro", "hgvsWellDefined": "NP_001358656.1:p.Leu247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS693024", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000393959.6:c.740T>C" }, "RefSeq": { "hgvs": "NM_001371727.1:c.740T>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000377531.1:p.Leu247Pro" }, "RefSeq": { "hgvs": "NP_001358656.1:p.Leu247Pro" } } } }, { "@id": "http://reg.genome.network/allele/PA2580430996", "coordinates": [ { "allele": "C", "end": 1238, "referenceAllele": "T", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN004082", "geneNCBI_id": 2561, "geneSymbol": "GABRB2", "hgvs": [ "NM_021911.3:c.740T>C" ], "proteinEffect": { "hgvs": "NP_068711.1:p.Leu247Pro", "hgvsWellDefined": "NP_068711.1:p.Leu247Pro" }, "referenceSequence": "http://reg.genome.network/refseq/RS728548" } ], "type": "nucleotide" }