← 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: 5-79642871-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=79642871&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 79642871,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001349549.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001114394.3",
"protein_id": "NP_001107866.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 5100,
"mane_select": "ENST00000453514.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114394.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000453514.6",
"protein_id": "ENSP00000397563.1",
"transcript_support_level": 5,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 5100,
"mane_select": "NM_001114394.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453514.6"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000423041.6",
"protein_id": "ENSP00000393412.2",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423041.6"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000504233.5",
"protein_id": "ENSP00000421966.1",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 441,
"cds_start": 712,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504233.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000947497.1",
"protein_id": "ENSP00000617556.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 531,
"cds_start": 712,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 5239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947497.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000947503.1",
"protein_id": "ENSP00000617562.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 527,
"cds_start": 700,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947503.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.742A>C",
"hgvs_p": "p.Ile248Leu",
"transcript": "ENST00000923579.1",
"protein_id": "ENSP00000593638.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 519,
"cds_start": 742,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923579.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.730A>C",
"hgvs_p": "p.Ile244Leu",
"transcript": "ENST00000947500.1",
"protein_id": "ENSP00000617559.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 515,
"cds_start": 730,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947500.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001349549.2",
"protein_id": "NP_001336478.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 509,
"cds_start": 712,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349549.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001349550.2",
"protein_id": "NP_001336479.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 509,
"cds_start": 712,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349550.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001388093.1",
"protein_id": "NP_001375022.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 509,
"cds_start": 712,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388093.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001388094.1",
"protein_id": "NP_001375023.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 509,
"cds_start": 712,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 4856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388094.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000885999.1",
"protein_id": "ENSP00000556058.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 509,
"cds_start": 712,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885999.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000886008.1",
"protein_id": "ENSP00000556067.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 509,
"cds_start": 712,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886008.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.709A>C",
"hgvs_p": "p.Ile237Leu",
"transcript": "ENST00000886014.1",
"protein_id": "ENSP00000556073.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 508,
"cds_start": 709,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886014.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000886003.1",
"protein_id": "ENSP00000556062.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 506,
"cds_start": 712,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886003.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001349551.2",
"protein_id": "NP_001336480.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 505,
"cds_start": 700,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 5163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349551.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388095.1",
"protein_id": "NP_001375024.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 505,
"cds_start": 700,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 5300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388095.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388096.1",
"protein_id": "NP_001375025.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 505,
"cds_start": 700,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 4918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388096.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388097.1",
"protein_id": "NP_001375026.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 505,
"cds_start": 700,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388097.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000886011.1",
"protein_id": "ENSP00000556070.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 505,
"cds_start": 700,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886011.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000886015.1",
"protein_id": "ENSP00000556074.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 505,
"cds_start": 700,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886015.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000947506.1",
"protein_id": "ENSP00000617565.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 505,
"cds_start": 700,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947506.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.697A>C",
"hgvs_p": "p.Ile233Leu",
"transcript": "NM_001388098.1",
"protein_id": "NP_001375027.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 504,
"cds_start": 697,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388098.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000886013.1",
"protein_id": "ENSP00000556072.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 502,
"cds_start": 700,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886013.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000947501.1",
"protein_id": "ENSP00000617560.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 502,
"cds_start": 700,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947501.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.742A>C",
"hgvs_p": "p.Ile248Leu",
"transcript": "NM_001388099.1",
"protein_id": "NP_001375028.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 494,
"cds_start": 742,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 5130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388099.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.742A>C",
"hgvs_p": "p.Ile248Leu",
"transcript": "NM_001388100.1",
"protein_id": "NP_001375029.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 494,
"cds_start": 742,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 5200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388100.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.742A>C",
"hgvs_p": "p.Ile248Leu",
"transcript": "ENST00000886000.1",
"protein_id": "ENSP00000556059.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 494,
"cds_start": 742,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 3531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886000.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.730A>C",
"hgvs_p": "p.Ile244Leu",
"transcript": "NM_001388101.1",
"protein_id": "NP_001375030.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 490,
"cds_start": 730,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 5118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388101.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000886004.1",
"protein_id": "ENSP00000556063.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 490,
"cds_start": 712,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886004.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.730A>C",
"hgvs_p": "p.Ile244Leu",
"transcript": "ENST00000923578.1",
"protein_id": "ENSP00000593637.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 490,
"cds_start": 730,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923578.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001114393.3",
"protein_id": "NP_001107865.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114393.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001349552.2",
"protein_id": "NP_001336481.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 5170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349552.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001349553.2",
"protein_id": "NP_001336482.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 5247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349553.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001388102.1",
"protein_id": "NP_001375031.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 5485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388102.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001388103.1",
"protein_id": "NP_001375032.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 5189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388103.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001388105.1",
"protein_id": "NP_001375034.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 5096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388105.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001388106.1",
"protein_id": "NP_001375035.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 4905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388106.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001388107.1",
"protein_id": "NP_001375036.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 4929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388107.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001388108.1",
"protein_id": "NP_001375037.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388108.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001388109.1",
"protein_id": "NP_001375038.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 4940,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388109.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001388110.1",
"protein_id": "NP_001375039.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388110.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001388111.1",
"protein_id": "NP_001375040.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 4914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388111.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001388112.1",
"protein_id": "NP_001375041.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 4794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388112.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_173797.5",
"protein_id": "NP_776158.2",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173797.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000296783.7",
"protein_id": "ENSP00000296783.3",
"transcript_support_level": 2,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296783.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000886001.1",
"protein_id": "ENSP00000556060.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886001.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000886002.1",
"protein_id": "ENSP00000556061.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886002.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000886012.1",
"protein_id": "ENSP00000556071.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 3401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886012.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000886019.1",
"protein_id": "ENSP00000556078.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 2299,
"cdna_end": null,
"cdna_length": 4410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886019.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000947496.1",
"protein_id": "ENSP00000617555.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947496.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000947499.1",
"protein_id": "ENSP00000617558.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 484,
"cds_start": 700,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 3493,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947499.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000947504.1",
"protein_id": "ENSP00000617563.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 3216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947504.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000947508.1",
"protein_id": "ENSP00000617567.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947508.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.709A>C",
"hgvs_p": "p.Ile237Leu",
"transcript": "NM_001388113.1",
"protein_id": "NP_001375042.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 483,
"cds_start": 709,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388113.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.709A>C",
"hgvs_p": "p.Ile237Leu",
"transcript": "ENST00000886009.1",
"protein_id": "ENSP00000556068.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 483,
"cds_start": 709,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886009.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001297744.3",
"protein_id": "NP_001284673.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 4813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297744.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001349554.2",
"protein_id": "NP_001336483.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 5158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349554.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388114.1",
"protein_id": "NP_001375043.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 5088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388114.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388115.1",
"protein_id": "NP_001375044.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 5177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388115.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388116.1",
"protein_id": "NP_001375045.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 4917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388116.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388117.1",
"protein_id": "NP_001375046.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 4947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388117.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388118.1",
"protein_id": "NP_001375047.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 5084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388118.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388119.1",
"protein_id": "NP_001375048.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388119.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388120.1",
"protein_id": "NP_001375049.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 4839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388120.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388121.1",
"protein_id": "NP_001375050.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 4809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388121.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388122.1",
"protein_id": "NP_001375051.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 4893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388122.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388123.1",
"protein_id": "NP_001375052.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388123.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388124.1",
"protein_id": "NP_001375053.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 4769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388124.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388125.1",
"protein_id": "NP_001375054.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 4994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388125.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388126.1",
"protein_id": "NP_001375055.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 5247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388126.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388127.1",
"protein_id": "NP_001375056.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388127.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388128.1",
"protein_id": "NP_001375057.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 4847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388128.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388129.1",
"protein_id": "NP_001375058.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 4928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388129.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000885998.1",
"protein_id": "ENSP00000556057.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 4880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885998.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000886006.1",
"protein_id": "ENSP00000556065.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886006.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000886007.1",
"protein_id": "ENSP00000556066.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886007.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000886010.1",
"protein_id": "ENSP00000556069.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886010.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000886017.1",
"protein_id": "ENSP00000556076.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886017.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000886018.1",
"protein_id": "ENSP00000556077.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886018.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000947507.1",
"protein_id": "ENSP00000617566.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947507.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.697A>C",
"hgvs_p": "p.Ile233Leu",
"transcript": "NM_001388130.1",
"protein_id": "NP_001375059.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 479,
"cds_start": 697,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 5085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388130.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.697A>C",
"hgvs_p": "p.Ile233Leu",
"transcript": "ENST00000886005.1",
"protein_id": "ENSP00000556064.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 479,
"cds_start": 697,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886005.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.697A>C",
"hgvs_p": "p.Ile233Leu",
"transcript": "ENST00000947505.1",
"protein_id": "ENSP00000617564.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 479,
"cds_start": 697,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947505.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000947498.1",
"protein_id": "ENSP00000617557.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 462,
"cds_start": 700,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947498.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.634A>C",
"hgvs_p": "p.Ile212Leu",
"transcript": "ENST00000886016.1",
"protein_id": "ENSP00000556075.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 458,
"cds_start": 634,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886016.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.622A>C",
"hgvs_p": "p.Ile208Leu",
"transcript": "NM_001388131.1",
"protein_id": "NP_001375060.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 454,
"cds_start": 622,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1294,
"cdna_end": null,
"cdna_length": 5010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388131.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.610A>C",
"hgvs_p": "p.Ile204Leu",
"transcript": "NM_001388132.1",
"protein_id": "NP_001375061.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 450,
"cds_start": 610,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 4998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388132.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001297745.3",
"protein_id": "NP_001284674.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 441,
"cds_start": 712,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 4971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297745.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "NM_001388133.1",
"protein_id": "NP_001375062.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 441,
"cds_start": 712,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388133.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "ENST00000886020.1",
"protein_id": "ENSP00000556079.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 441,
"cds_start": 712,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886020.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388134.1",
"protein_id": "NP_001375063.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 437,
"cds_start": 700,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388134.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "NM_001388135.1",
"protein_id": "NP_001375064.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 437,
"cds_start": 700,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 4959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388135.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "ENST00000923580.1",
"protein_id": "ENSP00000593639.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 437,
"cds_start": 700,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923580.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.352A>C",
"hgvs_p": "p.Ile118Leu",
"transcript": "NM_001388136.1",
"protein_id": "NP_001375065.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 364,
"cds_start": 352,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1108,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388136.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.43A>C",
"hgvs_p": "p.Ile15Leu",
"transcript": "NM_001349548.2",
"protein_id": "NP_001336477.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 261,
"cds_start": 43,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 4876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349548.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_011543220.4",
"protein_id": "XP_011541522.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 509,
"cds_start": 712,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 5245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543220.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_011543221.4",
"protein_id": "XP_011541523.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 509,
"cds_start": 712,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 5334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543221.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_011543224.3",
"protein_id": "XP_011541526.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 509,
"cds_start": 712,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543224.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_011543225.3",
"protein_id": "XP_011541527.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 509,
"cds_start": 712,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 5004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543225.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_047416844.1",
"protein_id": "XP_047272800.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 509,
"cds_start": 712,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416844.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_047416845.1",
"protein_id": "XP_047272801.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 509,
"cds_start": 712,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 4989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416845.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "XM_017009152.3",
"protein_id": "XP_016864641.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 505,
"cds_start": 700,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 5233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009152.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "XM_047416846.1",
"protein_id": "XP_047272802.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 505,
"cds_start": 700,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 5252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416846.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "XM_047416847.1",
"protein_id": "XP_047272803.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 505,
"cds_start": 700,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 4888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416847.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "XM_047416848.1",
"protein_id": "XP_047272804.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 505,
"cds_start": 700,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 5011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416848.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "XM_047416849.1",
"protein_id": "XP_047272805.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 505,
"cds_start": 700,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416849.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_047416850.1",
"protein_id": "XP_047272806.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 5259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416850.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_047416851.1",
"protein_id": "XP_047272807.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416851.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_047416852.1",
"protein_id": "XP_047272808.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 484,
"cds_start": 712,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 4948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416852.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "XM_047416853.1",
"protein_id": "XP_047272809.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 5006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416853.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "XM_047416854.1",
"protein_id": "XP_047272810.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 4936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416854.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "XM_047416855.1",
"protein_id": "XP_047272811.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 480,
"cds_start": 700,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416855.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_011543229.4",
"protein_id": "XP_011541531.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 466,
"cds_start": 712,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 5046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543229.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_047416856.1",
"protein_id": "XP_047272812.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 441,
"cds_start": 712,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 5041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416856.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_047416857.1",
"protein_id": "XP_047272813.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 441,
"cds_start": 712,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 5060,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416857.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_047416858.1",
"protein_id": "XP_047272814.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 441,
"cds_start": 712,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 4730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416858.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "XM_047416859.1",
"protein_id": "XP_047272815.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 437,
"cds_start": 700,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 5029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416859.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_047416860.1",
"protein_id": "XP_047272816.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 370,
"cds_start": 712,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416860.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.700A>C",
"hgvs_p": "p.Ile234Leu",
"transcript": "XM_047416861.1",
"protein_id": "XP_047272817.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 366,
"cds_start": 700,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416861.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu",
"transcript": "XM_047416862.1",
"protein_id": "XP_047272818.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 345,
"cds_start": 712,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416862.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.-51A>C",
"hgvs_p": null,
"transcript": "XM_047416864.1",
"protein_id": "XP_047272820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": null,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416864.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.676+1671A>C",
"hgvs_p": null,
"transcript": "ENST00000947502.1",
"protein_id": "ENSP00000617561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": null,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947502.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"hgvs_c": "c.228-5746A>C",
"hgvs_p": null,
"transcript": "NM_001388137.1",
"protein_id": "NP_001375066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388137.1"
}
],
"gene_symbol": "TENT2",
"gene_hgnc_id": 26776,
"dbsnp": "rs1236961149",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15914472937583923,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.4066,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.775,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"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_001349549.2",
"gene_symbol": "TENT2",
"hgnc_id": 26776,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.712A>C",
"hgvs_p": "p.Ile238Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}