ConVarT

ClinVar Data

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Stop Retained Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
20-62694667-T-G	ENST00000395053	p.Met1?	Start Lost	1	30950	0.000032	rs1316342529
20-62694671-G-A	ENST00000395053	p.Met2Ile	Missense Variant	0	0	0	rs1317749753
20-62694674-C-T	ENST00000395053	p.Gly3Gly	Synonymous Variant	0	0	0	rs1345823040
20-62694675-A-C	ENST00000395053	p.Lys4Gln	Missense Variant	0	0	0	rs540313866
20-62694677-G-A	ENST00000395053	p.Lys4Lys	Synonymous Variant	0	0	0	rs1299900099
20-62694690-G-A	ENST00000395053	p.Ala9Thr	Missense Variant	0	0	0	rs1343554393
20-62694693-C-G	ENST00000395053	p.Arg10Gly	Missense Variant	0	0	0	rs1222744671
20-62694698-C-T	ENST00000395053	p.Ile11Ile	Synonymous Variant	0	0	0	rs1275193676
20-62694701-C-T	ENST00000395053	p.Ala12Ala	Synonymous Variant	1	31228	0.000032	rs748316892
20-62694702-C-A	ENST00000395053	p.Arg13Arg	Synonymous Variant	1	31188	0.000032	rs769731700
20-62694702-C-G	ENST00000395053	p.Arg13Gly	Missense Variant	0	0	0	rs769731700
20-62694702-C-T	ENST00000395053	p.Arg13Trp	Missense Variant	0	0	0	rs769731700
20-62694703-G-A	ENST00000395053	p.Arg13Gln	Missense Variant	0	0	0	rs1282943337
20-62694704-G-A	ENST00000395053	p.Arg13Arg	Synonymous Variant	0	0	0	rs773820158
20-62694707-G-A	ENST00000395053	p.Arg14Arg	Synonymous Variant	0	0	0	rs749763855
20-62694708-C-T	ENST00000395053	p.Leu15Leu	Synonymous Variant	0	0	0	rs1267460607
20-62694712-A-G	ENST00000395053	p.Asp16Gly	Missense Variant	0	0	0	rs1490320572
20-62694713-C-G	ENST00000395053	p.Asp16Glu	Missense Variant	0	0	0	rs1200083892
20-62694714-A-G	ENST00000395053	p.Lys17Glu	Missense Variant	0	0	0	rs1248770709
20-62694715-A-C	ENST00000395053	p.Lys17Thr	Missense Variant	0	0	0	rs1018996274

Showing 1 to 20 of 270 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - In Frame

Nonstop Extension

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
TCEA2_ENST00000395053	ENST00000395053	ESCC_25	oesophagus	carcinoma	45034330	c.507G>C	p.Q169H	Substitution - Missense	PATHOGENIC	.84807	Confirmed somatic variant	PMID: 26873401	NS	169
TCEA2_ENST00000395053	ENST00000395053	OSCC-GB_01060111	upper_aerodigestive_tract	carcinoma	45035495	c.*543A>T	p.?	Unknown	PATHOGENIC	.94903	Confirmed somatic variant	PMID: N/A	primary	0
TCEA2_ENST00000395053	ENST00000395053	TCGA-3B-A9HY-01	soft_tissue	sarcoma	45035009	c.277G>A	p.G93S	Substitution - Missense	NEUTRAL	.05384	Confirmed somatic variant	PMID: N/A	primary	93
TCEA2_ENST00000395053	ENST00000395053	TCGA-3B-A9HY-01	soft_tissue	sarcoma	45035016	c.278G>A	p.G93D	Substitution - Missense	NEUTRAL	.02869	Confirmed somatic variant	PMID: N/A	primary	93
TCEA2_ENST00000395053	ENST00000395053	S02120_1	lung	carcinoma	45033868	c.323A>G	p.D108G	Substitution - Missense	NEUTRAL	.27603	Confirmed somatic variant	PMID: 26168399	primary	108
TCEA2_ENST00000395053	ENST00000395053	CPCG0472-F1	prostate	carcinoma	45033662	c.73-509T>C	p.?	Unknown	NEUTRAL	.00782	Confirmed somatic variant	PMID: N/A	primary	0
TCEA2_ENST00000395053	ENST00000395053	TCGA-AA-3492-01	large_intestine	carcinoma	45034906	c.38G>A	p.R13Q	Substitution - Missense	NEUTRAL	.37425	Confirmed somatic variant	PMID: N/A	NS	13
TCEA2_ENST00000395053	ENST00000395053	2014_Lung_sq_102_T	lung	carcinoma	45033736	c.461-26A>C	p.?	Unknown	NEUTRAL	.00504	Confirmed somatic variant	PMID: N/A	primary	0
TCEA2_ENST00000395053	ENST00000395053	ESCC_140	oesophagus	carcinoma	45033444	c.445G>A	p.A149T	Substitution - Missense	PATHOGENIC	.96614	Confirmed somatic variant	PMID: 26873401	NS	149
TCEA2_ENST00000395053	ENST00000395053	TNKTL18	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	45034057	c.241+161G>A	p.?	Unknown	NEUTRAL	.03394	Confirmed somatic variant	PMID: N/A	primary	0
TCEA2_ENST00000395053	ENST00000395053	TCGA-BR-8487-01	stomach	carcinoma	45034049	c.523C>A	p.L175I	Substitution - Missense	PATHOGENIC	.95898	Confirmed somatic variant	PMID: N/A	NS	175
TCEA2_ENST00000395053	ENST00000395053	CN-AML-08-T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	45033962	c.*675-35C>T	p.?	Unknown	NEUTRAL	.16275	Confirmed somatic variant	PMID: N/A	primary	0
TCEA2_ENST00000395053	ENST00000395053	TCGA-EB-A6QY-01	skin	malignant_melanoma	45034634	c.*291C>T	p.?	Unknown	NEUTRAL	.41031	Confirmed somatic variant	PMID: N/A	NS	0
TCEA2_ENST00000395053	ENST00000395053	PD6042a	breast	carcinoma	45035195	c.*602+275G>A	p.?	Unknown	NEUTRAL	.0945	Confirmed somatic variant	PMID: N/A	primary	0
TCEA2_ENST00000395053	ENST00000395053	TCGA-44-2656-01	lung	carcinoma	45034099	c.76G>T	p.G26*	Substitution - Nonsense	PATHOGENIC	.95217	Variant of unknown origin	PMID: N/A	primary	26
TCEA2_ENST00000395053	ENST00000395053	TCGA-EB-A5FP-01	skin	malignant_melanoma	45035552	c.*147C>T	p.?	Unknown	NEUTRAL	.00965	Confirmed somatic variant	PMID: N/A	NS	0
TCEA2_ENST00000395053	ENST00000395053	TCGA-AZ-4315-01	large_intestine	carcinoma	45035072	c.*261G>T	p.?	Unknown	PATHOGENIC	.79596	Confirmed somatic variant	PMID: N/A	NS	0
TCEA2_ENST00000395053	ENST00000395053	GCTK_345_T	stomach	carcinoma	45034070	c.358C>T	p.P120S	Substitution - Missense	NEUTRAL	.32192	Confirmed somatic variant	PMID: N/A	primary	120
TCEA2_ENST00000395053	ENST00000395053	0194_CRUK_PC_0194_T1_DNA	prostate	carcinoma	45034918	c.*603-278C>T	p.?	Unknown	NEUTRAL	.00981	Confirmed somatic variant	PMID: N/A	primary	0
TCEA2_ENST00000395053	ENST00000395053	TCGA-55-A48X-01	lung	carcinoma	45035378	c.*187A>C	p.?	Unknown	NEUTRAL	.08702	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 108 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF01096	TFIIS_C	Transcription factor S-II (TFIIS)	268-306	CL0167	Zn_Beta_Ribbon	Caenorhabditis elegans
PF07500	TFIIS_M	Transcription factor S-II (TFIIS), central domain	144-255			Caenorhabditis elegans
PF08711	Med26	TFIIS helical bundle-like domain	30-81			Caenorhabditis elegans

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.799	0.138
Acute Myeloid Leukemia, M1	Neoplasms ;	0.799	0.138
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.799	0.138
NO RESULT FOUND

Description:	transcription elongation factor A2 [Source:HGNC Symbol;Acc:HGNC:11614]
Synonyms:	TFIIS
Other ID(s):	HGNC:11614, ENSG00000171703
Protein Accession Numbers:	ENST00000395053, ENST00000339217, NP_942016, ENST00000440819, ENST00000361317, NP_003186, ENST00000415602, ENST00000343484, ENST00000458442
Statistics:	gnomAD(270) COSMIC(108)

Classification of Clinicial Significance of ClinVar Data