{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4571399", "communityStandardTitle": [ "NM_003040.4(SLC4A2):c.2462G>A (p.Arg821His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2734567[alleleid]", "alleleId": 2734567, "preferredName": "NM_003040.4(SLC4A2):c.2462G>A (p.Arg821His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2566724", "RCV": [ "RCV004332560" ], "variationId": 2566724 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-150769150-G-A", "id": "7-150769150-G-A", "variant": "7:150769150 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150769150G>A?assembly=hg19", "id": "chr7:g.150769150G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.151072063G>A?assembly=hg38", "id": "chr7:g.151072063G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/746816423", "rs": 746816423 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-150769150-G-A?dataset=gnomad_r2_1", "id": "7-150769150-G-A", "variant": "7:150769150 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-151072063-G-A?dataset=gnomad_r3", "id": "7-151072063-G-A", "variant": "7:151072063 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-151072063-G-A?dataset=gnomad_r4", "id": "7-151072063-G-A", "variant": "7:151072063 G / A" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 151072063, "referenceAllele": "G", "start": 151072062 } ], "hgvs": [ "NC_000007.14:g.151072063G>A", "CM000669.2:g.151072063G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 150769150, "referenceAllele": "G", "start": 150769149 } ], "hgvs": [ "NC_000007.13:g.150769150G>A", "CM000669.1:g.150769150G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 150400083, "referenceAllele": "G", "start": 150400082 } ], "hgvs": [ "NC_000007.12:g.150400083G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 18864, "referenceAllele": "G", "start": 18863 } ], "hgvs": [ "NG_051947.1:g.18864G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS617096" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2699, "referenceAllele": "G", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "ENST00000413384.7:c.2462G>A" ], "proteinEffect": { "hgvs": "ENSP00000405600.2:p.Arg821His", "hgvsWellDefined": "ENSP00000405600.2:p.Arg821His" }, "referenceSequence": "http://reg.genome.network/refseq/RS754533", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000413384.7:c.2462G>A" }, "RefSeq": { "hgvs": "NM_003040.4:c.2462G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000405600.2:p.Arg821His" }, "RefSeq": { "hgvs": "NP_003031.3:p.Arg821His" } } } }, { "coordinates": [ { "allele": "A", "end": 2525, "referenceAllele": "G", "start": 2524 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "ENST00000677246.1:c.2462G>A" ], "proteinEffect": { "hgvs": "ENSP00000504447.1:p.Arg821His", "hgvsWellDefined": "ENSP00000504447.1:p.Arg821His" }, "referenceSequence": "http://reg.genome.network/refseq/RS776909" }, { "coordinates": [ { "allele": "A", "end": 2550, "referenceAllele": "G", "start": 2549 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "ENST00000310317.9:c.2216G>A" ], "proteinEffect": { "hgvs": "ENSP00000311402.5:p.Arg739His", "hgvsWellDefined": "ENSP00000311402.5:p.Arg739His" }, "referenceSequence": "http://reg.genome.network/refseq/RS256343" }, { "coordinates": [ { "allele": "A", "end": 2528, "referenceAllele": "G", "start": 2527 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "ENST00000392826.6:c.2435G>A" ], "proteinEffect": { "hgvs": "ENSP00000376571.2:p.Arg812His", "hgvsWellDefined": "ENSP00000376571.2:p.Arg812His" }, "referenceSequence": "http://reg.genome.network/refseq/RS275306" }, { "coordinates": [ { "allele": "A", "end": 2718, "referenceAllele": "G", "start": 2717 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "ENST00000413384.6:c.2462G>A" ], "proteinEffect": { "hgvs": "ENSP00000405600.2:p.Arg821His", "hgvsWellDefined": "ENSP00000405600.2:p.Arg821His" }, "referenceSequence": "http://reg.genome.network/refseq/RS283047" }, { "coordinates": [ { "allele": "A", "end": 399, "referenceAllele": "G", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "ENST00000460010.1:n.399G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS304849" }, { "coordinates": [ { "allele": "A", "end": 2967, "referenceAllele": "G", "start": 2966 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "ENST00000461735.1:c.2420G>A" ], "proteinEffect": { "hgvs": "ENSP00000419164.1:p.Arg807His", "hgvsWellDefined": "ENSP00000419164.1:p.Arg807His" }, "referenceSequence": "http://reg.genome.network/refseq/RS306180" }, { "coordinates": [ { "allele": "A", "end": 60, "referenceAllele": "G", "start": 59 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "ENST00000472204.1:n.60G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS314237" }, { "coordinates": [ { "allele": "A", "end": 231, "referenceAllele": "G", "start": 230 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "ENST00000482697.1:n.231G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS322332" }, { "coordinates": [ { "allele": "A", "end": 3502, "referenceAllele": "G", "start": 3501 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "ENST00000485713.5:c.2462G>A" ], "proteinEffect": { "hgvs": "ENSP00000419412.1:p.Arg821His", "hgvsWellDefined": "ENSP00000419412.1:p.Arg821His" }, "referenceSequence": "http://reg.genome.network/refseq/RS324679" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "G", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "ENST00000493040.5:n.483G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS330283" }, { "@id": "http://reg.genome.network/allele/PA2826246365", "coordinates": [ { "allele": "A", "end": 3502, "referenceAllele": "G", "start": 3501 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "NM_001199692.1:c.2462G>A" ], "proteinEffect": { "hgvs": "NP_001186621.1:p.Arg821His", "hgvsWellDefined": "NP_001186621.1:p.Arg821His" }, "referenceSequence": "http://reg.genome.network/refseq/RS017167" }, { "@id": "http://reg.genome.network/allele/PA2826246450", "coordinates": [ { "allele": "A", "end": 2528, "referenceAllele": "G", "start": 2527 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "NM_001199693.1:c.2435G>A" ], "proteinEffect": { "hgvs": "NP_001186622.1:p.Arg812His", "hgvsWellDefined": "NP_001186622.1:p.Arg812His" }, "referenceSequence": "http://reg.genome.network/refseq/RS017168" }, { "@id": "http://reg.genome.network/allele/PA2826246537", "coordinates": [ { "allele": "A", "end": 2949, "referenceAllele": "G", "start": 2948 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "NM_001199694.1:c.2420G>A" ], "proteinEffect": { "hgvs": "NP_001186623.1:p.Arg807His", "hgvsWellDefined": "NP_001186623.1:p.Arg807His" }, "referenceSequence": "http://reg.genome.network/refseq/RS017169" }, { "@id": "http://reg.genome.network/allele/PA2741897154", "coordinates": [ { "allele": "A", "end": 2718, "referenceAllele": "G", "start": 2717 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "NM_003040.3:c.2462G>A" ], "proteinEffect": { "hgvs": "NP_003031.3:p.Arg821His", "hgvsWellDefined": "NP_003031.3:p.Arg821His" }, "referenceSequence": "http://reg.genome.network/refseq/RS028321" }, { "coordinates": [ { "allele": "A", "end": 2802, "referenceAllele": "G", "start": 2801 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "XM_011516497.1:c.2462G>A" ], "proteinEffect": { "hgvs": "XP_011514799.1:p.Arg821His", "hgvsWellDefined": "XP_011514799.1:p.Arg821His" }, "referenceSequence": "http://reg.genome.network/refseq/RS083698" }, { "@id": "http://reg.genome.network/allele/PA2826246365", "coordinates": [ { "allele": "A", "end": 3514, "referenceAllele": "G", "start": 3513 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "NM_001199692.2:c.2462G>A" ], "proteinEffect": { "hgvs": "NP_001186621.1:p.Arg821His", "hgvsWellDefined": "NP_001186621.1:p.Arg821His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511838" }, { "@id": "http://reg.genome.network/allele/PA2826246537", "coordinates": [ { "allele": "A", "end": 2959, "referenceAllele": "G", "start": 2958 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "NM_001199694.2:c.2420G>A" ], "proteinEffect": { "hgvs": "NP_001186623.1:p.Arg807His", "hgvsWellDefined": "NP_001186623.1:p.Arg807His" }, "referenceSequence": "http://reg.genome.network/refseq/RS511839" }, { "@id": "http://reg.genome.network/allele/PA2741897154", "coordinates": [ { "allele": "A", "end": 2699, "referenceAllele": "G", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "NM_003040.4:c.2462G>A" ], "proteinEffect": { "hgvs": "NP_003031.3:p.Arg821His", "hgvsWellDefined": "NP_003031.3:p.Arg821His" }, "referenceSequence": "http://reg.genome.network/refseq/RS665842", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000413384.7:c.2462G>A" }, "RefSeq": { "hgvs": "NM_003040.4:c.2462G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000405600.2:p.Arg821His" }, "RefSeq": { "hgvs": "NP_003031.3:p.Arg821His" } } } }, { "@id": "http://reg.genome.network/allele/PA2826246365", "coordinates": [ { "allele": "A", "end": 3514, "referenceAllele": "G", "start": 3513 } ], "gene": "http://reg.genome.network/gene/GN011028", "geneNCBI_id": 6522, "geneSymbol": "SLC4A2", "hgvs": [ "NM_001199692.3:c.2462G>A" ], "proteinEffect": { "hgvs": "NP_001186621.1:p.Arg821His", "hgvsWellDefined": "NP_001186621.1:p.Arg821His" }, "referenceSequence": "http://reg.genome.network/refseq/RS714007" } ], "type": "nucleotide" }