← 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: 1-12009641-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=12009641&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PS3",
"PM5",
"PP2",
"PP3",
"PP5_Very_Strong",
"BS1_Supporting"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MFN2",
"hgnc_id": 16877,
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 16,
"score": 15,
"transcript": "NM_014874.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM5,PP2,PP3,PP5_Very_Strong,BS1_Supporting",
"acmg_score": 15,
"allele_count_reference_population": 731,
"alphamissense_prediction": null,
"alphamissense_score": 0.3702,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.41,
"chr": "1",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": " autosomal recessive, axonal, hereditary motor and sensory, type 2A, type 2a2b, type 6A,Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease type 2,Charcot-Marie-Tooth disease type 2A2,Hereditary motor and sensory neuropathy with optic atrophy,Inborn genetic diseases,MFN2-related disorder,Multiple symmetric lipomatosis,Neuropathy,Peripheral axonal neuropathy,Tip-toe gait,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:17 LP:5 O:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8352029919624329,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4407,
"cdna_start": 2309,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_014874.4",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000235329.10",
"protein_coding": true,
"protein_id": "NP_055689.1",
"strand": true,
"transcript": "NM_014874.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4407,
"cdna_start": 2309,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000235329.10",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014874.4",
"protein_coding": true,
"protein_id": "ENSP00000235329.5",
"strand": true,
"transcript": "ENST00000235329.10",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 808,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3584,
"cdna_start": 2544,
"cds_end": null,
"cds_length": 2427,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000675298.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501839.1",
"strand": true,
"transcript": "ENST00000675298.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 801,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4766,
"cdna_start": 2676,
"cds_end": null,
"cds_length": 2406,
"cds_start": 2251,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000675817.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2251C>T",
"hgvs_p": "p.Arg751Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502422.1",
"strand": true,
"transcript": "ENST00000675817.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 801,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4623,
"cdna_start": 2534,
"cds_end": null,
"cds_length": 2406,
"cds_start": 2251,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000898895.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2251C>T",
"hgvs_p": "p.Arg751Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568954.1",
"strand": true,
"transcript": "ENST00000898895.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 801,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4521,
"cdna_start": 2425,
"cds_end": null,
"cds_length": 2406,
"cds_start": 2251,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000967404.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2251C>T",
"hgvs_p": "p.Arg751Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637463.1",
"strand": true,
"transcript": "ENST00000967404.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 801,
"aa_ref": "R",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 2505,
"cds_end": null,
"cds_length": 2406,
"cds_start": 2251,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000967417.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2251C>T",
"hgvs_p": "p.Arg751Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637476.1",
"strand": true,
"transcript": "ENST00000967417.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 787,
"aa_ref": "R",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": 2586,
"cds_end": null,
"cds_length": 2364,
"cds_start": 2209,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000898885.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2209C>T",
"hgvs_p": "p.Arg737Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568944.1",
"strand": true,
"transcript": "ENST00000898885.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4262,
"cdna_start": 2164,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001127660.2",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121132.1",
"strand": true,
"transcript": "NM_001127660.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4531,
"cdna_start": 2427,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000444836.5",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416338.1",
"strand": true,
"transcript": "ENST00000444836.5",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4572,
"cdna_start": 2482,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000674548.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502185.1",
"strand": true,
"transcript": "ENST00000674548.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4514,
"cdna_start": 2419,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000674817.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502151.1",
"strand": true,
"transcript": "ENST00000674817.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4539,
"cdna_start": 2449,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000674910.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501716.1",
"strand": true,
"transcript": "ENST00000674910.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4555,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000675053.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501646.1",
"strand": true,
"transcript": "ENST00000675053.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4461,
"cdna_start": 2371,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000675113.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502623.1",
"strand": true,
"transcript": "ENST00000675113.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4772,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000675231.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502404.1",
"strand": true,
"transcript": "ENST00000675231.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": 2399,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000675919.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501776.1",
"strand": true,
"transcript": "ENST00000675919.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4529,
"cdna_start": 2431,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000676293.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502362.1",
"strand": true,
"transcript": "ENST00000676293.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4609,
"cdna_start": 2511,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000898883.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568942.1",
"strand": true,
"transcript": "ENST00000898883.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4513,
"cdna_start": 2413,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000898886.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568945.1",
"strand": true,
"transcript": "ENST00000898886.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4640,
"cdna_start": 2542,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000898887.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568946.1",
"strand": true,
"transcript": "ENST00000898887.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4538,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000898888.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568947.1",
"strand": true,
"transcript": "ENST00000898888.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4265,
"cdna_start": 2167,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000898889.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568948.1",
"strand": true,
"transcript": "ENST00000898889.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4499,
"cdna_start": 2401,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000898890.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568949.1",
"strand": true,
"transcript": "ENST00000898890.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4525,
"cdna_start": 2427,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000898893.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568952.1",
"strand": true,
"transcript": "ENST00000898893.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4550,
"cdna_start": 2455,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000898894.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568953.1",
"strand": true,
"transcript": "ENST00000898894.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4480,
"cdna_start": 2380,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000898896.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568955.1",
"strand": true,
"transcript": "ENST00000898896.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4511,
"cdna_start": 2413,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000898897.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568956.1",
"strand": true,
"transcript": "ENST00000898897.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4529,
"cdna_start": 2428,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000898898.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568957.1",
"strand": true,
"transcript": "ENST00000898898.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4376,
"cdna_start": 2276,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000898899.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568958.1",
"strand": true,
"transcript": "ENST00000898899.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4377,
"cdna_start": 2279,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000898900.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568959.1",
"strand": true,
"transcript": "ENST00000898900.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4506,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000917332.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587391.1",
"strand": true,
"transcript": "ENST00000917332.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4805,
"cdna_start": 2713,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000967393.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637452.1",
"strand": true,
"transcript": "ENST00000967393.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4683,
"cdna_start": 2580,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000967395.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637454.1",
"strand": true,
"transcript": "ENST00000967395.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4716,
"cdna_start": 2618,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000967396.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637455.1",
"strand": true,
"transcript": "ENST00000967396.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4736,
"cdna_start": 2638,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000967397.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637456.1",
"strand": true,
"transcript": "ENST00000967397.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4554,
"cdna_start": 2463,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967398.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637457.1",
"strand": true,
"transcript": "ENST00000967398.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4677,
"cdna_start": 2585,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000967399.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637458.1",
"strand": true,
"transcript": "ENST00000967399.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 2379,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967400.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637459.1",
"strand": true,
"transcript": "ENST00000967400.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4511,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000967401.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637460.1",
"strand": true,
"transcript": "ENST00000967401.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4480,
"cdna_start": 2382,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000967403.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637462.1",
"strand": true,
"transcript": "ENST00000967403.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 2379,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000967405.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637464.1",
"strand": true,
"transcript": "ENST00000967405.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4386,
"cdna_start": 2288,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000967406.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637465.1",
"strand": true,
"transcript": "ENST00000967406.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4516,
"cdna_start": 2417,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000967408.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637467.1",
"strand": true,
"transcript": "ENST00000967408.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4782,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000967410.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637469.1",
"strand": true,
"transcript": "ENST00000967410.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": 2434,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000967411.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637470.1",
"strand": true,
"transcript": "ENST00000967411.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4495,
"cdna_start": 2400,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000967412.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637471.1",
"strand": true,
"transcript": "ENST00000967412.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4119,
"cdna_start": 2336,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000967413.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637472.1",
"strand": true,
"transcript": "ENST00000967413.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5188,
"cdna_start": 3097,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967414.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637473.1",
"strand": true,
"transcript": "ENST00000967414.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4519,
"cdna_start": 2421,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967415.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637474.1",
"strand": true,
"transcript": "ENST00000967415.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4270,
"cdna_start": 2172,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000967416.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637475.1",
"strand": true,
"transcript": "ENST00000967416.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4371,
"cdna_start": 2272,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967419.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637478.1",
"strand": true,
"transcript": "ENST00000967419.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4609,
"cdna_start": 2505,
"cds_end": null,
"cds_length": 2271,
"cds_start": 2116,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967394.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2116C>T",
"hgvs_p": "p.Arg706Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637453.1",
"strand": true,
"transcript": "ENST00000967394.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4423,
"cdna_start": 2325,
"cds_end": null,
"cds_length": 2271,
"cds_start": 2116,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967402.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2116C>T",
"hgvs_p": "p.Arg706Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637461.1",
"strand": true,
"transcript": "ENST00000967402.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 753,
"aa_ref": "R",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4395,
"cdna_start": 2297,
"cds_end": null,
"cds_length": 2262,
"cds_start": 2107,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967409.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2107C>T",
"hgvs_p": "p.Arg703Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637468.1",
"strand": true,
"transcript": "ENST00000967409.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 752,
"aa_ref": "R",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4593,
"cdna_start": 2494,
"cds_end": null,
"cds_length": 2259,
"cds_start": 2104,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000898884.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2104C>T",
"hgvs_p": "p.Arg702Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568943.1",
"strand": true,
"transcript": "ENST00000898884.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 750,
"aa_ref": "R",
"aa_start": 700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4388,
"cdna_start": 2286,
"cds_end": null,
"cds_length": 2253,
"cds_start": 2098,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000967407.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2098C>T",
"hgvs_p": "p.Arg700Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637466.1",
"strand": true,
"transcript": "ENST00000967407.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 728,
"aa_ref": "R",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4317,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 2187,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000898892.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2032C>T",
"hgvs_p": "p.Arg678Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568951.1",
"strand": true,
"transcript": "ENST00000898892.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 728,
"aa_ref": "R",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4405,
"cdna_start": 2313,
"cds_end": null,
"cds_length": 2187,
"cds_start": 2032,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000967418.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2032C>T",
"hgvs_p": "p.Arg678Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637477.1",
"strand": true,
"transcript": "ENST00000967418.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 721,
"aa_ref": "R",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4302,
"cdna_start": 2199,
"cds_end": null,
"cds_length": 2166,
"cds_start": 2011,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000898891.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2011C>T",
"hgvs_p": "p.Arg671Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568950.1",
"strand": true,
"transcript": "ENST00000898891.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 642,
"aa_ref": "R",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4320,
"cdna_start": 2230,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000674658.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.1774C>T",
"hgvs_p": "p.Arg592Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502334.1",
"strand": true,
"transcript": "ENST00000674658.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4475,
"cdna_start": 2377,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_005263543.4",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005263600.1",
"strand": true,
"transcript": "XM_005263543.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": 2305,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_005263545.4",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005263602.1",
"strand": true,
"transcript": "XM_005263545.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4471,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_005263548.4",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005263605.1",
"strand": true,
"transcript": "XM_005263548.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4451,
"cdna_start": 2353,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047436149.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292105.1",
"strand": true,
"transcript": "XM_047436149.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4519,
"cdna_start": 2421,
"cds_end": null,
"cds_length": 2274,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047436154.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292110.1",
"strand": true,
"transcript": "XM_047436154.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 661,
"aa_ref": "R",
"aa_start": 611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4314,
"cdna_start": 2216,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1831,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047436156.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Arg611Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292112.1",
"strand": true,
"transcript": "XM_047436156.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000675043.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "n.87C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675043.1",
"transcript_support_level": null
},
{
"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": 4447,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000675404.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "n.2354C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675404.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4337,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000675483.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "n.2247C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675483.1",
"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": 4580,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000675512.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "n.*2121C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502630.1",
"strand": true,
"transcript": "ENST00000675512.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3700,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000675528.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "n.1610C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675528.1",
"transcript_support_level": null
},
{
"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": 4569,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000675872.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "n.2479C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675872.1",
"transcript_support_level": null
},
{
"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": 4715,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000675959.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "n.2625C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675959.1",
"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": 4453,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000675987.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "n.*92C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502145.1",
"strand": true,
"transcript": "ENST00000675987.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000676295.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "n.532C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000676295.1",
"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": 4352,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000676426.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "n.*1119C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502359.1",
"strand": true,
"transcript": "ENST00000676426.1",
"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": 4580,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000675512.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "n.*2121C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502630.1",
"strand": true,
"transcript": "ENST00000675512.1",
"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": 4453,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000675987.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "n.*92C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502145.1",
"strand": true,
"transcript": "ENST00000675987.1",
"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": 4352,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000676426.1",
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"hgvs_c": "n.*1119C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502359.1",
"strand": true,
"transcript": "ENST00000676426.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs119103267",
"effect": "missense_variant",
"frequency_reference_population": 0.0004528632,
"gene_hgnc_id": 16877,
"gene_symbol": "MFN2",
"gnomad_exomes_ac": 690,
"gnomad_exomes_af": 0.000471992,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 41,
"gnomad_genomes_af": 0.00026923,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;|not provided|Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2|Inborn genetic diseases|MFN2-related disorder|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;;Charcot-Marie-Tooth disease type 2A2|Peripheral axonal neuropathy|Charcot-Marie-Tooth disease, type 2A;Hereditary motor and sensory neuropathy with optic atrophy|Multiple symmetric lipomatosis|Neuropathy, hereditary motor and sensory, type 6A;Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;;Charcot-Marie-Tooth disease type 2A2|Neuropathy, hereditary motor and sensory, type 6A|Tip-toe gait",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.887,
"pos": 12009641,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.839,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014874.4"
}
]
}