← 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: 11-95836283-GT-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=95836283&ref=GT&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MTMR2",
"hgnc_id": 7450,
"hgvs_c": "c.1634_1635delACinsGT",
"hgvs_p": "p.Asn545Ser",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_016156.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AC",
"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": "S",
"aa_end": null,
"aa_length": 643,
"aa_ref": "N",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4495,
"cdna_start": 1788,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1634,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016156.6",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1634_1635delACinsGT",
"hgvs_p": "p.Asn545Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000346299.10",
"protein_coding": true,
"protein_id": "NP_057240.3",
"strand": false,
"transcript": "NM_016156.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 643,
"aa_ref": "N",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4495,
"cdna_start": 1788,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1634,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000346299.10",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1634_1635delACinsGT",
"hgvs_p": "p.Asn545Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016156.6",
"protein_coding": true,
"protein_id": "ENSP00000345752.6",
"strand": false,
"transcript": "ENST00000346299.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000352297.11",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343737.7",
"strand": false,
"transcript": "ENST00000352297.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4601,
"cdna_start": 1896,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000393223.8",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376915.3",
"strand": false,
"transcript": "ENST00000393223.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 615,
"aa_ref": "N",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1550,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440647.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1550_1551delACinsGT",
"hgvs_p": "p.Asn517Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427576.1",
"strand": false,
"transcript": "NM_001440647.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 612,
"aa_ref": "N",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4402,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 1839,
"cds_start": 1541,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440648.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1541_1542delACinsGT",
"hgvs_p": "p.Asn514Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427577.1",
"strand": false,
"transcript": "NM_001440648.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 581,
"aa_ref": "N",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4309,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440649.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1448_1449delACinsGT",
"hgvs_p": "p.Asn483Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427578.1",
"strand": false,
"transcript": "NM_001440649.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 581,
"aa_ref": "N",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4309,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440650.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1448_1449delACinsGT",
"hgvs_p": "p.Asn483Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427579.1",
"strand": false,
"transcript": "NM_001440650.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 581,
"aa_ref": "N",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4323,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 1746,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675022.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1448_1449delACinsGT",
"hgvs_p": "p.Asn483Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502722.1",
"strand": false,
"transcript": "ENST00000675022.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 580,
"aa_ref": "N",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4306,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 1743,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440651.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1445_1446delACinsGT",
"hgvs_p": "p.Asn482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427580.1",
"strand": false,
"transcript": "NM_001440651.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4762,
"cdna_start": 2055,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001243571.2",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230500.1",
"strand": false,
"transcript": "NM_001243571.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4430,
"cdna_start": 1723,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440630.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427559.1",
"strand": false,
"transcript": "NM_001440630.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4846,
"cdna_start": 2139,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440631.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427560.1",
"strand": false,
"transcript": "NM_001440631.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4810,
"cdna_start": 2103,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440632.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427561.1",
"strand": false,
"transcript": "NM_001440632.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4785,
"cdna_start": 2078,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440633.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427562.1",
"strand": false,
"transcript": "NM_001440633.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4701,
"cdna_start": 1994,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440634.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427563.1",
"strand": false,
"transcript": "NM_001440634.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4389,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440635.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427564.1",
"strand": false,
"transcript": "NM_001440635.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440636.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427565.1",
"strand": false,
"transcript": "NM_001440636.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4424,
"cdna_start": 1717,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440637.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427566.1",
"strand": false,
"transcript": "NM_001440637.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4689,
"cdna_start": 1982,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201278.3",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958435.1",
"strand": false,
"transcript": "NM_201278.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4566,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201281.3",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_958438.1",
"strand": false,
"transcript": "NM_201281.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": 1921,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409459.5",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386882.1",
"strand": false,
"transcript": "ENST00000409459.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2064,
"cdna_start": 1767,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000444541.7",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396020.2",
"strand": false,
"transcript": "ENST00000444541.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2235,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000470293.6",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502515.1",
"strand": false,
"transcript": "ENST00000470293.6",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000481642.6",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502505.1",
"strand": false,
"transcript": "ENST00000481642.6",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000484818.6",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501963.1",
"strand": false,
"transcript": "ENST00000484818.6",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 1951,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000495134.6",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501894.1",
"strand": false,
"transcript": "ENST00000495134.6",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2152,
"cdna_start": 1855,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000497683.6",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501753.1",
"strand": false,
"transcript": "ENST00000497683.6",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4558,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674528.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501567.1",
"strand": false,
"transcript": "ENST00000674528.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4210,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674610.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501688.1",
"strand": false,
"transcript": "ENST00000674610.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4577,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674924.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502433.1",
"strand": false,
"transcript": "ENST00000674924.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4555,
"cdna_start": 1850,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674968.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502567.1",
"strand": false,
"transcript": "ENST00000674968.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4577,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674989.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502829.1",
"strand": false,
"transcript": "ENST00000674989.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4630,
"cdna_start": 1925,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675174.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502032.1",
"strand": false,
"transcript": "ENST00000675174.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4629,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675196.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501867.1",
"strand": false,
"transcript": "ENST00000675196.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4674,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675362.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501989.1",
"strand": false,
"transcript": "ENST00000675362.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4387,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675454.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501781.1",
"strand": false,
"transcript": "ENST00000675454.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4608,
"cdna_start": 1903,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675477.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501751.1",
"strand": false,
"transcript": "ENST00000675477.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3536,
"cdna_start": 2041,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675489.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501702.1",
"strand": false,
"transcript": "ENST00000675489.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4494,
"cdna_start": 1789,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675636.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501850.1",
"strand": false,
"transcript": "ENST00000675636.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4474,
"cdna_start": 1769,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675652.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502694.1",
"strand": false,
"transcript": "ENST00000675652.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4602,
"cdna_start": 1897,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675933.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502575.1",
"strand": false,
"transcript": "ENST00000675933.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4504,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675981.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502204.1",
"strand": false,
"transcript": "ENST00000675981.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4504,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676166.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501632.1",
"strand": false,
"transcript": "ENST00000676166.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3457,
"cdna_start": 1973,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676261.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501675.1",
"strand": false,
"transcript": "ENST00000676261.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676272.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501601.1",
"strand": false,
"transcript": "ENST00000676272.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 1848,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676378.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502736.1",
"strand": false,
"transcript": "ENST00000676378.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4506,
"cdna_start": 1801,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676440.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501926.1",
"strand": false,
"transcript": "ENST00000676440.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 540,
"aa_ref": "N",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4732,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440638.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1325_1326delACinsGT",
"hgvs_p": "p.Asn442Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427567.1",
"strand": false,
"transcript": "NM_001440638.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 540,
"aa_ref": "N",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4630,
"cdna_start": 1923,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440639.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1325_1326delACinsGT",
"hgvs_p": "p.Asn442Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427568.1",
"strand": false,
"transcript": "NM_001440639.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 540,
"aa_ref": "N",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4481,
"cdna_start": 1774,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440641.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1325_1326delACinsGT",
"hgvs_p": "p.Asn442Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427570.1",
"strand": false,
"transcript": "NM_001440641.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 540,
"aa_ref": "N",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1325,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675438.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1325_1326delACinsGT",
"hgvs_p": "p.Asn442Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502388.1",
"strand": false,
"transcript": "ENST00000675438.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "N",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": 1949,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440642.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1286_1287delACinsGT",
"hgvs_p": "p.Asn429Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427571.1",
"strand": false,
"transcript": "NM_001440642.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "N",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4641,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675288.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1286_1287delACinsGT",
"hgvs_p": "p.Asn429Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501942.1",
"strand": false,
"transcript": "ENST00000675288.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "N",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4747,
"cdna_start": 2042,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675660.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1286_1287delACinsGT",
"hgvs_p": "p.Asn429Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502824.1",
"strand": false,
"transcript": "ENST00000675660.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "N",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3459,
"cdna_start": 1961,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675807.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1286_1287delACinsGT",
"hgvs_p": "p.Asn429Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501640.1",
"strand": false,
"transcript": "ENST00000675807.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "N",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4741,
"cdna_start": 2036,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675848.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1286_1287delACinsGT",
"hgvs_p": "p.Asn429Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502057.1",
"strand": false,
"transcript": "ENST00000675848.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "N",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4781,
"cdna_start": 2076,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676027.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1286_1287delACinsGT",
"hgvs_p": "p.Asn429Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502405.1",
"strand": false,
"transcript": "ENST00000676027.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "N",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4382,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1232,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440643.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1232_1233delACinsGT",
"hgvs_p": "p.Asn411Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427572.1",
"strand": false,
"transcript": "NM_001440643.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4438,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1418,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427807.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "c.1418_1419delACinsGT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283763.1",
"strand": false,
"transcript": "XM_047427807.1",
"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": 5478,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000674901.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.2772_2773delACinsGT",
"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": "ENST00000674901.1",
"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": 4974,
"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": "ENST00000674950.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1823_*1824delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502425.1",
"strand": false,
"transcript": "ENST00000674950.1",
"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": 4705,
"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": "ENST00000674974.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1569_*1570delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502337.1",
"strand": false,
"transcript": "ENST00000674974.1",
"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": 5511,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000675024.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.2805_2806delACinsGT",
"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": "ENST00000675024.1",
"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": 7939,
"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": "ENST00000675030.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*4803_*4804delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502386.1",
"strand": false,
"transcript": "ENST00000675030.1",
"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": 5499,
"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": "ENST00000675034.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.2793_2794delACinsGT",
"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": "ENST00000675034.1",
"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": 5503,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000675237.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.2797_2798delACinsGT",
"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": "ENST00000675237.1",
"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": 4582,
"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": "ENST00000675320.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1431_*1432delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502076.1",
"strand": false,
"transcript": "ENST00000675320.1",
"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": 5301,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000675413.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.2595_2596delACinsGT",
"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": "ENST00000675413.1",
"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": 5412,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000675495.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.2706_2707delACinsGT",
"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": "ENST00000675495.1",
"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": 5392,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000675767.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.2686_2687delACinsGT",
"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": "ENST00000675767.1",
"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": 5108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000675896.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1547_*1548delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502487.1",
"strand": false,
"transcript": "ENST00000675896.1",
"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": 4657,
"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": "ENST00000675910.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1572_*1573delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502622.1",
"strand": false,
"transcript": "ENST00000675910.1",
"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": 4670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000675922.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1525_*1526delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502168.1",
"strand": false,
"transcript": "ENST00000675922.1",
"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": 5402,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000675957.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.2696_2697delACinsGT",
"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": "ENST00000675957.1",
"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": 4396,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000676146.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1245_*1246delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502583.1",
"strand": false,
"transcript": "ENST00000676146.1",
"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": 4632,
"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": "ENST00000676177.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1547_*1548delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501635.1",
"strand": false,
"transcript": "ENST00000676177.1",
"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": 4505,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000676268.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*952_*953delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502444.1",
"strand": false,
"transcript": "ENST00000676268.1",
"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": 4519,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000676388.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1374_*1375delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501866.1",
"strand": false,
"transcript": "ENST00000676388.1",
"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": 5376,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000676393.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.2670_2671delACinsGT",
"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": "ENST00000676393.1",
"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": 5542,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000676432.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.2836_2837delACinsGT",
"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": "ENST00000676432.1",
"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": 4974,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000674950.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1823_*1824delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502425.1",
"strand": false,
"transcript": "ENST00000674950.1",
"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": 4705,
"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": "ENST00000674974.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1569_*1570delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502337.1",
"strand": false,
"transcript": "ENST00000674974.1",
"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": 7939,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000675030.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*4803_*4804delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502386.1",
"strand": false,
"transcript": "ENST00000675030.1",
"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": 4582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000675320.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1431_*1432delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502076.1",
"strand": false,
"transcript": "ENST00000675320.1",
"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": 5108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000675896.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1547_*1548delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502487.1",
"strand": false,
"transcript": "ENST00000675896.1",
"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": 4657,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000675910.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1572_*1573delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502622.1",
"strand": false,
"transcript": "ENST00000675910.1",
"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": 4670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000675922.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1525_*1526delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502168.1",
"strand": false,
"transcript": "ENST00000675922.1",
"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": 4396,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000676146.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1245_*1246delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502583.1",
"strand": false,
"transcript": "ENST00000676146.1",
"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": 4632,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000676177.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1547_*1548delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501635.1",
"strand": false,
"transcript": "ENST00000676177.1",
"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": 4505,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000676268.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*952_*953delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000502444.1",
"strand": false,
"transcript": "ENST00000676268.1",
"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": 4519,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000676388.1",
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"hgvs_c": "n.*1374_*1375delACinsGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501866.1",
"strand": false,
"transcript": "ENST00000676388.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 7450,
"gene_symbol": "MTMR2",
"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": "Pathogenic",
"phylop100way_score": 7.953,
"pos": 95836283,
"ref": "GT",
"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_016156.6"
}
]
}