← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-85704861-CCG-TAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=85704861&ref=CCG&alt=TAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SYTL2",
"hgnc_id": 15585,
"hgvs_c": "c.6184_6186delCGGinsTTA",
"hgvs_p": "p.Arg2062Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_206927.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2239,
"aa_ref": "R",
"aa_start": 2062,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8263,
"cdna_start": 6763,
"cds_end": null,
"cds_length": 6720,
"cds_start": 6184,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_206927.4",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6184_6186delCGGinsTTA",
"hgvs_p": "p.Arg2062Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359152.10",
"protein_coding": true,
"protein_id": "NP_996810.2",
"strand": false,
"transcript": "NM_206927.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2239,
"aa_ref": "R",
"aa_start": 2062,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8263,
"cdna_start": 6763,
"cds_end": null,
"cds_length": 6720,
"cds_start": 6184,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359152.10",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6184_6186delCGGinsTTA",
"hgvs_p": "p.Arg2062Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_206927.4",
"protein_coding": true,
"protein_id": "ENSP00000352065.7",
"strand": false,
"transcript": "ENST00000359152.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 934,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3536,
"cdna_start": 2549,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2269,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528231.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2269_2271delCGGinsTTA",
"hgvs_p": "p.Arg757Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431701.1",
"strand": false,
"transcript": "ENST00000528231.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 910,
"aa_ref": "R",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4299,
"cdna_start": 2794,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2197,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000389960.8",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2197_2199delCGGinsTTA",
"hgvs_p": "p.Arg733Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374610.4",
"strand": false,
"transcript": "ENST00000389960.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1131,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000525702.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.595_597delCGGinsTTA",
"hgvs_p": "p.Arg199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432996.1",
"strand": false,
"transcript": "ENST00000525702.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6250,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000525423.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "n.4807_4809delCGGinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000525423.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2437,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000532995.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "n.*285_*287delCGGinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436678.1",
"strand": false,
"transcript": "ENST00000532995.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2437,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000532995.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "n.*285_*287delCGGinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436678.1",
"strand": false,
"transcript": "ENST00000532995.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2238,
"aa_ref": "R",
"aa_start": 2061,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8260,
"cdna_start": 6760,
"cds_end": null,
"cds_length": 6717,
"cds_start": 6181,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394447.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6181_6183delCGGinsTTA",
"hgvs_p": "p.Arg2061Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381376.1",
"strand": false,
"transcript": "NM_001394447.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2223,
"aa_ref": "R",
"aa_start": 2046,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8215,
"cdna_start": 6715,
"cds_end": null,
"cds_length": 6672,
"cds_start": 6136,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394448.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6136_6138delCGGinsTTA",
"hgvs_p": "p.Arg2046Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381377.1",
"strand": false,
"transcript": "NM_001394448.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2223,
"aa_ref": "R",
"aa_start": 2046,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8315,
"cdna_start": 6815,
"cds_end": null,
"cds_length": 6672,
"cds_start": 6136,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394449.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6136_6138delCGGinsTTA",
"hgvs_p": "p.Arg2046Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381378.1",
"strand": false,
"transcript": "NM_001394449.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2223,
"aa_ref": "R",
"aa_start": 2046,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6672,
"cdna_start": 6138,
"cds_end": null,
"cds_length": 6672,
"cds_start": 6136,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000634661.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6136_6138delCGGinsTTA",
"hgvs_p": "p.Arg2046Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489269.1",
"strand": false,
"transcript": "ENST00000634661.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2222,
"aa_ref": "R",
"aa_start": 2045,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8212,
"cdna_start": 6712,
"cds_end": null,
"cds_length": 6669,
"cds_start": 6133,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_206928.4",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6133_6135delCGGinsTTA",
"hgvs_p": "p.Arg2045Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996811.2",
"strand": false,
"transcript": "NM_206928.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2212,
"aa_ref": "R",
"aa_start": 2035,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8182,
"cdna_start": 6682,
"cds_end": null,
"cds_length": 6639,
"cds_start": 6103,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394473.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6103_6105delCGGinsTTA",
"hgvs_p": "p.Arg2035Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381402.1",
"strand": false,
"transcript": "NM_001394473.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2196,
"aa_ref": "R",
"aa_start": 2019,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8134,
"cdna_start": 6634,
"cds_end": null,
"cds_length": 6591,
"cds_start": 6055,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394450.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6055_6057delCGGinsTTA",
"hgvs_p": "p.Arg2019Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381379.1",
"strand": false,
"transcript": "NM_001394450.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2195,
"aa_ref": "R",
"aa_start": 2018,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8131,
"cdna_start": 6631,
"cds_end": null,
"cds_length": 6588,
"cds_start": 6052,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394451.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6052_6054delCGGinsTTA",
"hgvs_p": "p.Arg2018Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381380.1",
"strand": false,
"transcript": "NM_001394451.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 951,
"aa_ref": "R",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4717,
"cdna_start": 3217,
"cds_end": null,
"cds_length": 2856,
"cds_start": 2320,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394453.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2320_2322delCGGinsTTA",
"hgvs_p": "p.Arg774Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381382.1",
"strand": false,
"transcript": "NM_001394453.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 951,
"aa_ref": "R",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4399,
"cdna_start": 2899,
"cds_end": null,
"cds_length": 2856,
"cds_start": 2320,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394454.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2320_2322delCGGinsTTA",
"hgvs_p": "p.Arg774Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381383.1",
"strand": false,
"transcript": "NM_001394454.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4396,
"cdna_start": 2896,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2317,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394455.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2317_2319delCGGinsTTA",
"hgvs_p": "p.Arg773Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381384.1",
"strand": false,
"transcript": "NM_001394455.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 950,
"aa_ref": "R",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4351,
"cdna_start": 2851,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2317,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394456.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2317_2319delCGGinsTTA",
"hgvs_p": "p.Arg773Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381385.1",
"strand": false,
"transcript": "NM_001394456.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 935,
"aa_ref": "R",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4351,
"cdna_start": 2851,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2272,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001162953.4",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2272_2274delCGGinsTTA",
"hgvs_p": "p.Arg758Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001156425.1",
"strand": false,
"transcript": "NM_001162953.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 935,
"aa_ref": "R",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4293,
"cdna_start": 2839,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2272,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000316356.8",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2272_2274delCGGinsTTA",
"hgvs_p": "p.Arg758Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000318803.4",
"strand": false,
"transcript": "ENST00000316356.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 935,
"aa_ref": "R",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4632,
"cdna_start": 3132,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2272,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897958.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2272_2274delCGGinsTTA",
"hgvs_p": "p.Arg758Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568017.1",
"strand": false,
"transcript": "ENST00000897958.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 935,
"aa_ref": "R",
"aa_start": 758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4056,
"cdna_start": 3042,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2272,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897962.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2272_2274delCGGinsTTA",
"hgvs_p": "p.Arg758Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568021.1",
"strand": false,
"transcript": "ENST00000897962.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 934,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4348,
"cdna_start": 2848,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2269,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001162951.4",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2269_2271delCGGinsTTA",
"hgvs_p": "p.Arg757Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001156423.1",
"strand": false,
"transcript": "NM_001162951.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 934,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4588,
"cdna_start": 3088,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2269,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394457.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2269_2271delCGGinsTTA",
"hgvs_p": "p.Arg757Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381386.1",
"strand": false,
"transcript": "NM_001394457.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 934,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4335,
"cdna_start": 2835,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2269,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394458.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2269_2271delCGGinsTTA",
"hgvs_p": "p.Arg757Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381387.1",
"strand": false,
"transcript": "NM_001394458.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 934,
"aa_ref": "R",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4303,
"cdna_start": 2803,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2269,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394459.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2269_2271delCGGinsTTA",
"hgvs_p": "p.Arg757Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381388.1",
"strand": false,
"transcript": "NM_001394459.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 924,
"aa_ref": "R",
"aa_start": 747,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4318,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 2775,
"cds_start": 2239,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394460.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2239_2241delCGGinsTTA",
"hgvs_p": "p.Arg747Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381389.1",
"strand": false,
"transcript": "NM_001394460.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 923,
"aa_ref": "R",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4315,
"cdna_start": 2815,
"cds_end": null,
"cds_length": 2772,
"cds_start": 2236,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394461.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2236_2238delCGGinsTTA",
"hgvs_p": "p.Arg746Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381390.1",
"strand": false,
"transcript": "NM_001394461.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 911,
"aa_ref": "R",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4279,
"cdna_start": 2779,
"cds_end": null,
"cds_length": 2736,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365826.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2200_2202delCGGinsTTA",
"hgvs_p": "p.Arg734Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352755.1",
"strand": false,
"transcript": "NM_001365826.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 910,
"aa_ref": "R",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4276,
"cdna_start": 2776,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2197,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032943.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2197_2199delCGGinsTTA",
"hgvs_p": "p.Arg733Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_116561.1",
"strand": false,
"transcript": "NM_032943.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 910,
"aa_ref": "R",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2733,
"cdna_start": 2199,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2197,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000524452.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2197_2199delCGGinsTTA",
"hgvs_p": "p.Arg733Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435238.1",
"strand": false,
"transcript": "ENST00000524452.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 908,
"aa_ref": "R",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 2757,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2191,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394462.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2191_2193delCGGinsTTA",
"hgvs_p": "p.Arg731Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381391.1",
"strand": false,
"transcript": "NM_001394462.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 907,
"aa_ref": "R",
"aa_start": 730,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4267,
"cdna_start": 2767,
"cds_end": null,
"cds_length": 2724,
"cds_start": 2188,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394464.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2188_2190delCGGinsTTA",
"hgvs_p": "p.Arg730Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381393.1",
"strand": false,
"transcript": "NM_001394464.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3906,
"cdna_start": 2406,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2173,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001289608.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2173_2175delCGGinsTTA",
"hgvs_p": "p.Arg725Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276537.1",
"strand": false,
"transcript": "NM_001289608.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3049,
"cdna_start": 2406,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2173,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527523.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2173_2175delCGGinsTTA",
"hgvs_p": "p.Arg725Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434010.1",
"strand": false,
"transcript": "ENST00000527523.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 886,
"aa_ref": "R",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3858,
"cdna_start": 2358,
"cds_end": null,
"cds_length": 2661,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394466.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2125_2127delCGGinsTTA",
"hgvs_p": "p.Arg709Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381395.1",
"strand": false,
"transcript": "NM_001394466.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 884,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4198,
"cdna_start": 2698,
"cds_end": null,
"cds_length": 2655,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394467.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2119_2121delCGGinsTTA",
"hgvs_p": "p.Arg707Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381396.1",
"strand": false,
"transcript": "NM_001394467.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 883,
"aa_ref": "R",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4182,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 2652,
"cds_start": 2116,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394468.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2116_2118delCGGinsTTA",
"hgvs_p": "p.Arg706Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381397.1",
"strand": false,
"transcript": "NM_001394468.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 876,
"aa_ref": "R",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 2328,
"cds_end": null,
"cds_length": 2631,
"cds_start": 2095,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394469.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2095_2097delCGGinsTTA",
"hgvs_p": "p.Arg699Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381398.1",
"strand": false,
"transcript": "NM_001394469.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 869,
"aa_ref": "R",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4153,
"cdna_start": 2653,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2074,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394470.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2074_2076delCGGinsTTA",
"hgvs_p": "p.Arg692Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381399.1",
"strand": false,
"transcript": "NM_001394470.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 862,
"aa_ref": "R",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3786,
"cdna_start": 2286,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365827.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2053_2055delCGGinsTTA",
"hgvs_p": "p.Arg685Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352756.1",
"strand": false,
"transcript": "NM_001365827.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 651,
"aa_ref": "R",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2425,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000530351.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.1420_1422delCGGinsTTA",
"hgvs_p": "p.Arg474Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488994.1",
"strand": false,
"transcript": "ENST00000530351.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 429,
"aa_ref": "R",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 811,
"cds_end": null,
"cds_length": 1290,
"cds_start": 754,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365835.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.754_756delCGGinsTTA",
"hgvs_p": "p.Arg252Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352764.1",
"strand": false,
"transcript": "NM_001365835.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1131,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365828.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.595_597delCGGinsTTA",
"hgvs_p": "p.Arg199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352757.1",
"strand": false,
"transcript": "NM_001365828.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 815,
"cds_end": null,
"cds_length": 1131,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365829.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.595_597delCGGinsTTA",
"hgvs_p": "p.Arg199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352758.1",
"strand": false,
"transcript": "NM_001365829.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 1131,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365830.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.595_597delCGGinsTTA",
"hgvs_p": "p.Arg199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352759.1",
"strand": false,
"transcript": "NM_001365830.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": 863,
"cds_end": null,
"cds_length": 1131,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_206929.4",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.595_597delCGGinsTTA",
"hgvs_p": "p.Arg199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996812.1",
"strand": false,
"transcript": "NM_206929.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1910,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1131,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000529581.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.595_597delCGGinsTTA",
"hgvs_p": "p.Arg199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435855.1",
"strand": false,
"transcript": "ENST00000529581.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 365,
"aa_ref": "R",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 720,
"cds_end": null,
"cds_length": 1098,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365833.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.562_564delCGGinsTTA",
"hgvs_p": "p.Arg188Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352762.1",
"strand": false,
"transcript": "NM_001365833.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 365,
"aa_ref": "R",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1098,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_206930.4",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.562_564delCGGinsTTA",
"hgvs_p": "p.Arg188Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996813.1",
"strand": false,
"transcript": "NM_206930.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 365,
"aa_ref": "R",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1098,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000389958.7",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.562_564delCGGinsTTA",
"hgvs_p": "p.Arg188Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374608.3",
"strand": false,
"transcript": "ENST00000389958.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 336,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2389,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1011,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001162952.3",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.475_477delCGGinsTTA",
"hgvs_p": "p.Arg159Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001156424.1",
"strand": false,
"transcript": "NM_001162952.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 336,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1011,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001289610.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.475_477delCGGinsTTA",
"hgvs_p": "p.Arg159Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276539.1",
"strand": false,
"transcript": "NM_001289610.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 336,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1441,
"cdna_start": 747,
"cds_end": null,
"cds_length": 1011,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000533892.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.475_477delCGGinsTTA",
"hgvs_p": "p.Arg159Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432144.1",
"strand": false,
"transcript": "ENST00000533892.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 325,
"aa_ref": "R",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 746,
"cds_end": null,
"cds_length": 978,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365831.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.442_444delCGGinsTTA",
"hgvs_p": "p.Arg148Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352760.1",
"strand": false,
"transcript": "NM_001365831.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 255,
"aa_ref": "R",
"aa_start": 78,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 768,
"cds_start": 232,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001289609.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.232_234delCGGinsTTA",
"hgvs_p": "p.Arg78Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276538.1",
"strand": false,
"transcript": "NM_001289609.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 159,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 683,
"cdna_start": 680,
"cds_end": null,
"cds_length": 480,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000527794.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.475_477delCGGinsTTA",
"hgvs_p": "p.Arg159Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437005.1",
"strand": false,
"transcript": "ENST00000527794.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 123,
"aa_ref": "R",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 699,
"cdna_start": 696,
"cds_end": null,
"cds_length": 372,
"cds_start": 367,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000533057.6",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.367_369delCGGinsTTA",
"hgvs_p": "p.Arg123Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436164.1",
"strand": false,
"transcript": "ENST00000533057.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2211,
"aa_ref": "R",
"aa_start": 2034,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8179,
"cdna_start": 6679,
"cds_end": null,
"cds_length": 6636,
"cds_start": 6100,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017017934.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6100_6102delCGGinsTTA",
"hgvs_p": "p.Arg2034Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873423.1",
"strand": false,
"transcript": "XM_017017934.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2199,
"aa_ref": "R",
"aa_start": 2022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8143,
"cdna_start": 6643,
"cds_end": null,
"cds_length": 6600,
"cds_start": 6064,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427153.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6064_6066delCGGinsTTA",
"hgvs_p": "p.Arg2022Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283109.1",
"strand": false,
"transcript": "XM_047427153.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2198,
"aa_ref": "R",
"aa_start": 2021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8140,
"cdna_start": 6640,
"cds_end": null,
"cds_length": 6597,
"cds_start": 6061,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427155.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6061_6063delCGGinsTTA",
"hgvs_p": "p.Arg2021Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283111.1",
"strand": false,
"transcript": "XM_047427155.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2182,
"aa_ref": "R",
"aa_start": 2005,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8092,
"cdna_start": 6592,
"cds_end": null,
"cds_length": 6549,
"cds_start": 6013,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427156.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6013_6015delCGGinsTTA",
"hgvs_p": "p.Arg2005Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283112.1",
"strand": false,
"transcript": "XM_047427156.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2175,
"aa_ref": "R",
"aa_start": 1998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7725,
"cdna_start": 6225,
"cds_end": null,
"cds_length": 6528,
"cds_start": 5992,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427158.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.5992_5994delCGGinsTTA",
"hgvs_p": "p.Arg1998Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283114.1",
"strand": false,
"transcript": "XM_047427158.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 908,
"aa_ref": "R",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4270,
"cdna_start": 2770,
"cds_end": null,
"cds_length": 2727,
"cds_start": 2191,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427161.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2191_2193delCGGinsTTA",
"hgvs_p": "p.Arg731Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283117.1",
"strand": false,
"transcript": "XM_047427161.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 903,
"aa_ref": "R",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3909,
"cdna_start": 2409,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2176,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427162.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2176_2178delCGGinsTTA",
"hgvs_p": "p.Arg726Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283118.1",
"strand": false,
"transcript": "XM_047427162.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 895,
"aa_ref": "R",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4231,
"cdna_start": 2731,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2152,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427163.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2152_2154delCGGinsTTA",
"hgvs_p": "p.Arg718Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283119.1",
"strand": false,
"transcript": "XM_047427163.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 894,
"aa_ref": "R",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4228,
"cdna_start": 2728,
"cds_end": null,
"cds_length": 2685,
"cds_start": 2149,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427164.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2149_2151delCGGinsTTA",
"hgvs_p": "p.Arg717Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283120.1",
"strand": false,
"transcript": "XM_047427164.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 887,
"aa_ref": "R",
"aa_start": 710,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3861,
"cdna_start": 2361,
"cds_end": null,
"cds_length": 2664,
"cds_start": 2128,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427166.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2128_2130delCGGinsTTA",
"hgvs_p": "p.Arg710Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283122.1",
"strand": false,
"transcript": "XM_047427166.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 884,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4198,
"cdna_start": 2698,
"cds_end": null,
"cds_length": 2655,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427167.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2119_2121delCGGinsTTA",
"hgvs_p": "p.Arg707Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283123.1",
"strand": false,
"transcript": "XM_047427167.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 883,
"aa_ref": "R",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4195,
"cdna_start": 2695,
"cds_end": null,
"cds_length": 2652,
"cds_start": 2116,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427168.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2116_2118delCGGinsTTA",
"hgvs_p": "p.Arg706Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283124.1",
"strand": false,
"transcript": "XM_047427168.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 868,
"aa_ref": "R",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4150,
"cdna_start": 2650,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2071,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427171.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2071_2073delCGGinsTTA",
"hgvs_p": "p.Arg691Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283127.1",
"strand": false,
"transcript": "XM_047427171.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 445,
"aa_ref": "R",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 859,
"cds_end": null,
"cds_length": 1338,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017017939.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.802_804delCGGinsTTA",
"hgvs_p": "p.Arg268Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873428.1",
"strand": false,
"transcript": "XM_017017939.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 365,
"aa_ref": "R",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2216,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1098,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427176.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.562_564delCGGinsTTA",
"hgvs_p": "p.Arg188Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283132.1",
"strand": false,
"transcript": "XM_047427176.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 325,
"aa_ref": "R",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 600,
"cds_end": null,
"cds_length": 978,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011545116.3",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.442_444delCGGinsTTA",
"hgvs_p": "p.Arg148Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543418.1",
"strand": false,
"transcript": "XM_011545116.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2035,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7651,
"cdna_start": null,
"cds_end": null,
"cds_length": 6108,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394452.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.5578-4270_5578-4268delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381381.1",
"strand": false,
"transcript": "NM_001394452.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 893,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4225,
"cdna_start": null,
"cds_end": null,
"cds_length": 2682,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394465.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2151+2566_2151+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381394.1",
"strand": false,
"transcript": "NM_001394465.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 893,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": null,
"cds_end": null,
"cds_length": 2682,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897963.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2151+2566_2151+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568022.1",
"strand": false,
"transcript": "ENST00000897963.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 878,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4209,
"cdna_start": null,
"cds_end": null,
"cds_length": 2637,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897959.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2106+2566_2106+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568018.1",
"strand": false,
"transcript": "ENST00000897959.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 877,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3685,
"cdna_start": null,
"cds_end": null,
"cds_length": 2634,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897961.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2103+2566_2103+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568020.1",
"strand": false,
"transcript": "ENST00000897961.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 853,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4019,
"cdna_start": null,
"cds_end": null,
"cds_length": 2562,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966560.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2031+2566_2031+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636619.1",
"strand": false,
"transcript": "ENST00000966560.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 851,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4086,
"cdna_start": null,
"cds_end": null,
"cds_length": 2556,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394471.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2025+2566_2025+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381400.1",
"strand": false,
"transcript": "NM_001394471.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 851,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4417,
"cdna_start": null,
"cds_end": null,
"cds_length": 2556,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394472.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2025+2566_2025+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381401.1",
"strand": false,
"transcript": "NM_001394472.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 827,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3541,
"cdna_start": null,
"cds_end": null,
"cds_length": 2484,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897960.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.1953+2566_1953+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568019.1",
"strand": false,
"transcript": "ENST00000897960.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": null,
"cds_end": null,
"cds_length": 927,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365834.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.396+2566_396+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352763.1",
"strand": false,
"transcript": "NM_001365834.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 268,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2075,
"cdna_start": null,
"cds_end": null,
"cds_length": 807,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365832.2",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.276+2566_276+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352761.1",
"strand": false,
"transcript": "NM_001365832.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2182,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8092,
"cdna_start": null,
"cds_end": null,
"cds_length": 6549,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427157.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.6018+2566_6018+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283113.1",
"strand": false,
"transcript": "XM_047427157.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 894,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4228,
"cdna_start": null,
"cds_end": null,
"cds_length": 2685,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427165.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2154+2566_2154+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283121.1",
"strand": false,
"transcript": "XM_047427165.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 878,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4180,
"cdna_start": null,
"cds_end": null,
"cds_length": 2637,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427169.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2106+2566_2106+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283125.1",
"strand": false,
"transcript": "XM_047427169.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 877,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4177,
"cdna_start": null,
"cds_end": null,
"cds_length": 2634,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427170.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2103+2566_2103+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283126.1",
"strand": false,
"transcript": "XM_047427170.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 854,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": null,
"cds_end": null,
"cds_length": 2565,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427172.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2034+2566_2034+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283128.1",
"strand": false,
"transcript": "XM_047427172.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 851,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4099,
"cdna_start": null,
"cds_end": null,
"cds_length": 2556,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427173.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2025+2566_2025+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283129.1",
"strand": false,
"transcript": "XM_047427173.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 850,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": null,
"cds_end": null,
"cds_length": 2553,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427174.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.2022+2566_2022+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283130.1",
"strand": false,
"transcript": "XM_047427174.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 827,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": null,
"cds_end": null,
"cds_length": 2484,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427175.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.1953+2566_1953+2568delCGGinsTTA",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283131.1",
"strand": false,
"transcript": "XM_047427175.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000389959.8",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "n.*890_*892delCGGinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489554.1",
"strand": false,
"transcript": "ENST00000389959.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 783,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000529662.1",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "n.393_395delCGGinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000529662.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000389959.8",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "n.*890_*892delCGGinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489554.1",
"strand": false,
"transcript": "ENST00000389959.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 711,
"cdna_start": null,
"cds_end": null,
"cds_length": 466,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000529534.5",
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"hgvs_c": "c.*129_*131delCGGinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432137.1",
"strand": true,
"transcript": "ENST00000529534.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 15585,
"gene_symbol": "SYTL2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.743,
"pos": 85704861,
"ref": "CCG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_206927.4"
}
]
}