← 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: 11-95836288-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=95836288&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 95836288,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016156.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1630A>G",
"hgvs_p": "p.Ile544Val",
"transcript": "NM_016156.6",
"protein_id": "NP_057240.3",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 643,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": "ENST00000346299.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016156.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1630A>G",
"hgvs_p": "p.Ile544Val",
"transcript": "ENST00000346299.10",
"protein_id": "ENSP00000345752.6",
"transcript_support_level": 1,
"aa_start": 544,
"aa_end": null,
"aa_length": 643,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": "NM_016156.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346299.10"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000352297.11",
"protein_id": "ENSP00000343737.7",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352297.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000393223.8",
"protein_id": "ENSP00000376915.3",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393223.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1546A>G",
"hgvs_p": "p.Ile516Val",
"transcript": "NM_001440647.1",
"protein_id": "NP_001427576.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 615,
"cds_start": 1546,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1699,
"cdna_end": null,
"cdna_length": 4411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440647.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1537A>G",
"hgvs_p": "p.Ile513Val",
"transcript": "NM_001440648.1",
"protein_id": "NP_001427577.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 612,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1690,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440648.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Ile482Val",
"transcript": "NM_001440649.1",
"protein_id": "NP_001427578.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 581,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440649.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Ile482Val",
"transcript": "NM_001440650.1",
"protein_id": "NP_001427579.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 581,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440650.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1444A>G",
"hgvs_p": "p.Ile482Val",
"transcript": "ENST00000675022.1",
"protein_id": "ENSP00000502722.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 581,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 4323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675022.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1441A>G",
"hgvs_p": "p.Ile481Val",
"transcript": "NM_001440651.1",
"protein_id": "NP_001427580.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 580,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440651.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "NM_001243571.2",
"protein_id": "NP_001230500.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2050,
"cdna_end": null,
"cdna_length": 4762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243571.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "NM_001440630.1",
"protein_id": "NP_001427559.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 4430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440630.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "NM_001440631.1",
"protein_id": "NP_001427560.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2134,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440631.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "NM_001440632.1",
"protein_id": "NP_001427561.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 4810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440632.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "NM_001440633.1",
"protein_id": "NP_001427562.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440633.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "NM_001440634.1",
"protein_id": "NP_001427563.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440634.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "NM_001440635.1",
"protein_id": "NP_001427564.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 4389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440635.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "NM_001440636.1",
"protein_id": "NP_001427565.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440636.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "NM_001440637.1",
"protein_id": "NP_001427566.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440637.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "NM_201278.3",
"protein_id": "NP_958435.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 4689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201278.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "NM_201281.3",
"protein_id": "NP_958438.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 4566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201281.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000409459.5",
"protein_id": "ENSP00000386882.1",
"transcript_support_level": 5,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409459.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000444541.7",
"protein_id": "ENSP00000396020.2",
"transcript_support_level": 5,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444541.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000470293.6",
"protein_id": "ENSP00000502515.1",
"transcript_support_level": 4,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1933,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470293.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000481642.6",
"protein_id": "ENSP00000502505.1",
"transcript_support_level": 4,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481642.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000484818.6",
"protein_id": "ENSP00000501963.1",
"transcript_support_level": 3,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484818.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000495134.6",
"protein_id": "ENSP00000501894.1",
"transcript_support_level": 3,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 2248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495134.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000497683.6",
"protein_id": "ENSP00000501753.1",
"transcript_support_level": 4,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497683.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000674528.1",
"protein_id": "ENSP00000501567.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 4558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674528.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000674610.1",
"protein_id": "ENSP00000501688.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1500,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674610.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000674924.1",
"protein_id": "ENSP00000502433.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 4577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674924.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000674968.1",
"protein_id": "ENSP00000502567.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 4555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674968.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000674989.1",
"protein_id": "ENSP00000502829.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 4577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674989.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000675174.1",
"protein_id": "ENSP00000502032.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 4630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675174.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000675196.1",
"protein_id": "ENSP00000501867.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675196.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000675362.1",
"protein_id": "ENSP00000501989.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675362.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000675454.1",
"protein_id": "ENSP00000501781.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675454.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000675477.1",
"protein_id": "ENSP00000501751.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 4608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675477.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000675489.1",
"protein_id": "ENSP00000501702.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675489.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000675636.1",
"protein_id": "ENSP00000501850.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 4494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675636.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000675652.1",
"protein_id": "ENSP00000502694.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675652.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000675933.1",
"protein_id": "ENSP00000502575.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 4602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675933.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000675981.1",
"protein_id": "ENSP00000502204.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675981.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000676166.1",
"protein_id": "ENSP00000501632.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1794,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676166.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000676261.1",
"protein_id": "ENSP00000501675.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676261.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000676272.1",
"protein_id": "ENSP00000501601.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1693,
"cdna_end": null,
"cdna_length": 4403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676272.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000676378.1",
"protein_id": "ENSP00000502736.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1843,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676378.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "ENST00000676440.1",
"protein_id": "ENSP00000501926.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 4506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676440.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1321A>G",
"hgvs_p": "p.Ile441Val",
"transcript": "NM_001440638.1",
"protein_id": "NP_001427567.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 540,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 4732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440638.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1321A>G",
"hgvs_p": "p.Ile441Val",
"transcript": "NM_001440639.1",
"protein_id": "NP_001427568.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 540,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 4630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440639.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1321A>G",
"hgvs_p": "p.Ile441Val",
"transcript": "NM_001440641.1",
"protein_id": "NP_001427570.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 540,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 4481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440641.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1321A>G",
"hgvs_p": "p.Ile441Val",
"transcript": "ENST00000675438.1",
"protein_id": "ENSP00000502388.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 540,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675438.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1282A>G",
"hgvs_p": "p.Ile428Val",
"transcript": "NM_001440642.1",
"protein_id": "NP_001427571.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 527,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 4656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440642.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1282A>G",
"hgvs_p": "p.Ile428Val",
"transcript": "ENST00000675288.1",
"protein_id": "ENSP00000501942.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 527,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675288.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1282A>G",
"hgvs_p": "p.Ile428Val",
"transcript": "ENST00000675660.1",
"protein_id": "ENSP00000502824.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 527,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675660.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1282A>G",
"hgvs_p": "p.Ile428Val",
"transcript": "ENST00000675807.1",
"protein_id": "ENSP00000501640.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 527,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 3459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675807.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1282A>G",
"hgvs_p": "p.Ile428Val",
"transcript": "ENST00000675848.1",
"protein_id": "ENSP00000502057.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 527,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 4741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675848.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1282A>G",
"hgvs_p": "p.Ile428Val",
"transcript": "ENST00000676027.1",
"protein_id": "ENSP00000502405.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 527,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676027.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Ile410Val",
"transcript": "NM_001440643.1",
"protein_id": "NP_001427572.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 509,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440643.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1414A>G",
"hgvs_p": "p.Ile472Val",
"transcript": "XM_047427807.1",
"protein_id": "XP_047283763.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 571,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427807.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.2768A>G",
"hgvs_p": null,
"transcript": "ENST00000674901.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000674901.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1819A>G",
"hgvs_p": null,
"transcript": "ENST00000674950.1",
"protein_id": "ENSP00000502425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674950.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1565A>G",
"hgvs_p": null,
"transcript": "ENST00000674974.1",
"protein_id": "ENSP00000502337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674974.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.2801A>G",
"hgvs_p": null,
"transcript": "ENST00000675024.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5511,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000675024.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*4799A>G",
"hgvs_p": null,
"transcript": "ENST00000675030.1",
"protein_id": "ENSP00000502386.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7939,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675030.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.2789A>G",
"hgvs_p": null,
"transcript": "ENST00000675034.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5499,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000675034.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.2793A>G",
"hgvs_p": null,
"transcript": "ENST00000675237.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5503,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000675237.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1427A>G",
"hgvs_p": null,
"transcript": "ENST00000675320.1",
"protein_id": "ENSP00000502076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4582,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675320.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.2591A>G",
"hgvs_p": null,
"transcript": "ENST00000675413.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000675413.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.2702A>G",
"hgvs_p": null,
"transcript": "ENST00000675495.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000675495.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.2682A>G",
"hgvs_p": null,
"transcript": "ENST00000675767.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5392,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000675767.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1543A>G",
"hgvs_p": null,
"transcript": "ENST00000675896.1",
"protein_id": "ENSP00000502487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5108,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675896.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1568A>G",
"hgvs_p": null,
"transcript": "ENST00000675910.1",
"protein_id": "ENSP00000502622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675910.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1521A>G",
"hgvs_p": null,
"transcript": "ENST00000675922.1",
"protein_id": "ENSP00000502168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4670,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675922.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.2692A>G",
"hgvs_p": null,
"transcript": "ENST00000675957.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5402,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000675957.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1241A>G",
"hgvs_p": null,
"transcript": "ENST00000676146.1",
"protein_id": "ENSP00000502583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676146.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1543A>G",
"hgvs_p": null,
"transcript": "ENST00000676177.1",
"protein_id": "ENSP00000501635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4632,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676177.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*948A>G",
"hgvs_p": null,
"transcript": "ENST00000676268.1",
"protein_id": "ENSP00000502444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4505,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676268.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1370A>G",
"hgvs_p": null,
"transcript": "ENST00000676388.1",
"protein_id": "ENSP00000501866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676388.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.2666A>G",
"hgvs_p": null,
"transcript": "ENST00000676393.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5376,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676393.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.2832A>G",
"hgvs_p": null,
"transcript": "ENST00000676432.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5542,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676432.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1819A>G",
"hgvs_p": null,
"transcript": "ENST00000674950.1",
"protein_id": "ENSP00000502425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4974,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674950.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1565A>G",
"hgvs_p": null,
"transcript": "ENST00000674974.1",
"protein_id": "ENSP00000502337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674974.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*4799A>G",
"hgvs_p": null,
"transcript": "ENST00000675030.1",
"protein_id": "ENSP00000502386.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7939,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675030.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1427A>G",
"hgvs_p": null,
"transcript": "ENST00000675320.1",
"protein_id": "ENSP00000502076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4582,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675320.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1543A>G",
"hgvs_p": null,
"transcript": "ENST00000675896.1",
"protein_id": "ENSP00000502487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5108,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675896.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1568A>G",
"hgvs_p": null,
"transcript": "ENST00000675910.1",
"protein_id": "ENSP00000502622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675910.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1521A>G",
"hgvs_p": null,
"transcript": "ENST00000675922.1",
"protein_id": "ENSP00000502168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4670,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675922.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1241A>G",
"hgvs_p": null,
"transcript": "ENST00000676146.1",
"protein_id": "ENSP00000502583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676146.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1543A>G",
"hgvs_p": null,
"transcript": "ENST00000676177.1",
"protein_id": "ENSP00000501635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4632,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676177.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*948A>G",
"hgvs_p": null,
"transcript": "ENST00000676268.1",
"protein_id": "ENSP00000502444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4505,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676268.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "n.*1370A>G",
"hgvs_p": null,
"transcript": "ENST00000676388.1",
"protein_id": "ENSP00000501866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676388.1"
}
],
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"dbsnp": "rs781368440",
"frequency_reference_population": 0.00002294016,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000239584,
"gnomad_genomes_af": 0.0000131556,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16108471155166626,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.23,
"revel_prediction": "Benign",
"alphamissense_score": 0.0605,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.232,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016156.6",
"gene_symbol": "MTMR2",
"hgnc_id": 7450,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1630A>G",
"hgvs_p": "p.Ile544Val"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 4,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Charcot-Marie-Tooth disease type 4|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}