{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA9750696", "communityStandardTitle": [ "NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=975551[alleleid]", "alleleId": 975551, "preferredName": "NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/987134", "RCV": [ "RCV001268386", "RCV002252354", "RCV002537709" ], "variationId": 987134 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/20-3888735-G-A", "id": "20-3888735-G-A", "variant": "20:3888735 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.3888735G>A?assembly=hg19", "id": "chr20:g.3888735G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.3908088G>A?assembly=hg38", "id": "chr20:g.3908088G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/368682034", "rs": 368682034 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3888735-G-A?dataset=gnomad_r2_1", "id": "20-3888735-G-A", "variant": "20:3888735 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3908088-G-A?dataset=gnomad_r3", "id": "20-3908088-G-A", "variant": "20:3908088 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/20-3908088-G-A?dataset=gnomad_r4", "id": "20-3908088-G-A", "variant": "20:3908088 G / A" } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 3908088, "referenceAllele": "G", "start": 3908087 } ], "hgvs": [ "NC_000020.11:g.3908088G>A", "CM000682.2:g.3908088G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 3888735, "referenceAllele": "G", "start": 3888734 } ], "hgvs": [ "NC_000020.10:g.3888735G>A", "CM000682.1:g.3888735G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 3836735, "referenceAllele": "G", "start": 3836734 } ], "hgvs": [ "NC_000020.9:g.3836735G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "A", "end": 24250, "referenceAllele": "G", "start": 24249 } ], "hgvs": [ "NG_008131.3:g.24250G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000877" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.7:c.461G>A" ], "proteinEffect": { "hgvs": "ENSP00000477429.2:p.Arg154Gln", "hgvsWellDefined": "ENSP00000477429.2:p.Arg154Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS826386", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000610179.7:c.461G>A" }, "RefSeq": { "hgvs": "NM_001386393.1:c.461G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000477429.2:p.Arg154Gln" }, "RefSeq": { "hgvs": "NP_001373322.1:p.Arg154Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "G", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000316562.9:c.791G>A" ], "proteinEffect": { "hgvs": "ENSP00000313377.4:p.Arg264Gln", "hgvsWellDefined": "ENSP00000313377.4:p.Arg264Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS746071" }, { "coordinates": [ { "allele": "A", "end": 503, "referenceAllele": "G", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000336066.8:c.461G>A" ], "proteinEffect": { "hgvs": "ENSP00000477229.2:p.Arg154Gln", "hgvsWellDefined": "ENSP00000477229.2:p.Arg154Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS747545" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.6:c.461G>A" ], "proteinEffect": { "hgvs": "ENSP00000477429.2:p.Arg154Gln", "hgvsWellDefined": "ENSP00000477429.2:p.Arg154Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS761766" }, { "coordinates": [ { "allele": "A", "end": 743, "referenceAllele": "G", "start": 742 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000643504.2:c.*234G>A" ], "proteinEffect": { "hgvs": "ENSP00000495157.2:n.*234G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767317" }, { "coordinates": [ { "allele": "A", "end": 288, "referenceAllele": "G", "start": 287 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000646394.1:c.288G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768849" }, { "coordinates": [ { "allele": "A", "end": 797, "referenceAllele": "G", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000316562.8:c.791G>A" ], "proteinEffect": { "hgvs": "ENSP00000313377.4:p.Arg264Gln", "hgvsWellDefined": "ENSP00000313377.4:p.Arg264Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS257247" }, { "coordinates": [ { "allele": "A", "end": 503, "referenceAllele": "G", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000336066.7:c.422G>A" ], "proteinEffect": { "hgvs": "ENSP00000477229.1:p.Arg141Gln", "hgvsWellDefined": "ENSP00000477229.1:p.Arg141Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS260236" }, { "coordinates": [ { "allele": "A", "end": 335, "referenceAllele": "G", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000471830.1:n.335G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS313940" }, { "coordinates": [ { "allele": "A", "end": 246, "referenceAllele": "G", "start": 245 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000495692.5:c.-375G>A" ], "proteinEffect": { "hgvs": "ENSP00000476745.1:n.-375G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS332340" }, { "coordinates": [ { "allele": "A", "end": 229, "referenceAllele": "G", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000497424.5:c.-83G>A" ], "proteinEffect": { "hgvs": "ENSP00000417609.1:n.-83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS333665" }, { "coordinates": [ { "allele": "A", "end": 477, "referenceAllele": "G", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000610179.5:c.422G>A" ], "proteinEffect": { "hgvs": "ENSP00000477429.1:p.Arg141Gln", "hgvsWellDefined": "ENSP00000477429.1:p.Arg141Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS400339" }, { "coordinates": [ { "allele": "A", "end": 280, "referenceAllele": "G", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "ENST00000621507.1:c.-83G>A" ], "proteinEffect": { "hgvs": "ENSP00000481523.1:n.-83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS405305" }, { "coordinates": [ { "allele": "A", "end": 229, "referenceAllele": "G", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_024960.4:c.-83G>A" ], "proteinEffect": { "hgvs": "NP_079236.3:n.-83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS038143" }, { "@id": "http://reg.genome.network/allele/PA1139750339", "coordinates": [ { "allele": "A", "end": 797, "referenceAllele": "G", "start": 796 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153638.2:c.791G>A" ], "proteinEffect": { "hgvs": "NP_705902.2:p.Arg264Gln", "hgvsWellDefined": "NP_705902.2:p.Arg264Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS042447" }, { "coordinates": [ { "allele": "A", "end": 280, "referenceAllele": "G", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153640.2:c.-83G>A" ], "proteinEffect": { "hgvs": "NP_705904.1:n.-83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS042448" }, { "coordinates": [ { "allele": "A", "end": 191, "referenceAllele": "G", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_005260835.2:c.176G>A" ], "proteinEffect": { "hgvs": "XP_005260892.1:p.Arg59Gln", "hgvsWellDefined": "XP_005260892.1:p.Arg59Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS062944" }, { "coordinates": [ { "allele": "A", "end": 235, "referenceAllele": "G", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_005260836.3:c.-83G>A" ], "proteinEffect": { "hgvs": "XP_005260893.3:n.-83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS062945" }, { "coordinates": [ { "allele": "A", "end": 331, "referenceAllele": "G", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_006723631.1:c.-83G>A" ], "proteinEffect": { "hgvs": "XP_006723694.1:n.-83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS075135" }, { "coordinates": [ { "allele": "A", "end": 852, "referenceAllele": "G", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_011529364.1:c.791G>A" ], "proteinEffect": { "hgvs": "XP_011527666.1:p.Arg264Gln", "hgvsWellDefined": "XP_011527666.1:p.Arg264Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS096433" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "G", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_011529365.1:c.791G>A" ], "proteinEffect": { "hgvs": "XP_011527667.1:p.Arg264Gln", "hgvsWellDefined": "XP_011527667.1:p.Arg264Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS096434" }, { "coordinates": [ { "allele": "A", "end": 1126, "referenceAllele": "G", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001324191.1:c.-83G>A" ], "proteinEffect": { "hgvs": "NP_001311120.1:n.-83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS515803" }, { "@id": "http://reg.genome.network/allele/PA2827244680", "coordinates": [ { "allele": "A", "end": 958, "referenceAllele": "G", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001324192.1:c.791G>A" ], "proteinEffect": { "hgvs": "NP_001311121.1:p.Arg264Gln", "hgvsWellDefined": "NP_001311121.1:p.Arg264Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS515804" }, { "coordinates": [ { "allele": "A", "end": 294, "referenceAllele": "G", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001324193.1:c.-375G>A" ], "proteinEffect": { "hgvs": "NP_001311122.1:n.-375G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS515805" }, { "coordinates": [ { "allele": "A", "end": 229, "referenceAllele": "G", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_024960.5:c.-83G>A" ], "proteinEffect": { "hgvs": "NP_079236.3:n.-83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS526199" }, { "@id": "http://reg.genome.network/allele/PA1139750339", "coordinates": [ { "allele": "A", "end": 958, "referenceAllele": "G", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153638.3:c.791G>A" ], "proteinEffect": { "hgvs": "NP_705902.2:p.Arg264Gln", "hgvsWellDefined": "NP_705902.2:p.Arg264Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS526712" }, { "coordinates": [ { "allele": "A", "end": 294, "referenceAllele": "G", "start": 293 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153640.3:c.-83G>A" ], "proteinEffect": { "hgvs": "NP_705904.1:n.-83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS526713" }, { "coordinates": [ { "allele": "A", "end": 958, "referenceAllele": "G", "start": 957 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NR_136715.1:n.958G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS528990" }, { "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "G", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_005260835.3:c.176G>A" ], "proteinEffect": { "hgvs": "XP_005260892.1:p.Arg59Gln", "hgvsWellDefined": "XP_005260892.1:p.Arg59Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS535249" }, { "coordinates": [ { "allele": "A", "end": 231, "referenceAllele": "G", "start": 230 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_005260836.4:c.-83G>A" ], "proteinEffect": { "hgvs": "XP_005260893.3:n.-83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS535250" }, { "coordinates": [ { "allele": "A", "end": 814, "referenceAllele": "G", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_011529364.3:c.791G>A" ], "proteinEffect": { "hgvs": "XP_011527666.1:p.Arg264Gln", "hgvsWellDefined": "XP_011527666.1:p.Arg264Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS549476" }, { "coordinates": [ { "allele": "A", "end": 814, "referenceAllele": "G", "start": 813 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_011529365.2:c.791G>A" ], "proteinEffect": { "hgvs": "XP_011527667.1:p.Arg264Gln", "hgvsWellDefined": "XP_011527667.1:p.Arg264Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS549477" }, { "coordinates": [ { "allele": "A", "end": 331, "referenceAllele": "G", "start": 330 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_017028077.2:c.-375G>A" ], "proteinEffect": { "hgvs": "XP_016883566.1:n.-375G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS577905" }, { "coordinates": [ { "allele": "A", "end": 228, "referenceAllele": "G", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_017028078.2:c.-375G>A" ], "proteinEffect": { "hgvs": "XP_016883567.1:n.-375G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS577906" }, { "coordinates": [ { "allele": "A", "end": 258, "referenceAllele": "G", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_017028079.2:c.-375G>A" ], "proteinEffect": { "hgvs": "XP_016883568.1:n.-375G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS577907" }, { "coordinates": [ { "allele": "A", "end": 245, "referenceAllele": "G", "start": 244 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XM_024452002.1:c.-375G>A" ], "proteinEffect": { "hgvs": "XP_024307770.1:n.-375G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585509" }, { "coordinates": [ { "allele": "A", "end": 952, "referenceAllele": "G", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "XR_002958533.1:n.952G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS604658" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001324191.2:c.-83G>A" ], "proteinEffect": { "hgvs": "NP_001311120.1:n.-83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS686244" }, { "coordinates": [ { "allele": "A", "end": 280, "referenceAllele": "G", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001324193.2:c.-375G>A" ], "proteinEffect": { "hgvs": "NP_001311122.1:n.-375G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS686245" }, { "coordinates": [ { "allele": "A", "end": 287, "referenceAllele": "G", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_024960.6:c.-83G>A" ], "proteinEffect": { "hgvs": "NP_079236.3:n.-83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS698795" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NR_136715.2:n.505G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703943" }, { "@id": "http://reg.genome.network/allele/PA2829111959", "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_001386393.1:c.461G>A" ], "proteinEffect": { "hgvs": "NP_001373322.1:p.Arg154Gln", "hgvsWellDefined": "NP_001373322.1:p.Arg154Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS724500", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000610179.7:c.461G>A" }, "RefSeq": { "hgvs": "NM_001386393.1:c.461G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000477429.2:p.Arg154Gln" }, "RefSeq": { "hgvs": "NP_001373322.1:p.Arg154Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA1139750339", "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "G", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153638.4:c.791G>A" ], "proteinEffect": { "hgvs": "NP_705902.2:p.Arg264Gln", "hgvsWellDefined": "NP_705902.2:p.Arg264Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS729485" }, { "coordinates": [ { "allele": "A", "end": 280, "referenceAllele": "G", "start": 279 } ], "gene": "http://reg.genome.network/gene/GN015894", "geneNCBI_id": 80025, "geneSymbol": "PANK2", "hgvs": [ "NM_153640.4:c.-83G>A" ], "proteinEffect": { "hgvs": "NP_705904.1:n.-83G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS729486" } ], "type": "nucleotide" }