TET2 (GeneID: 54790) | Homo sapiens
Description: tet methylcytosine dioxygenase 2 [Source:HGNC Symbol;Acc:HGNC:25941]
Synonyms: KIAA1546, MDS
Other ID(s): HGNC:25941, ENSG00000168769
Protein Accession Numbers: ENST00000380013, NP_001120680, ENST00000540549, ENST00000413648, ENST00000305737, ENST00000545826, ENST00000514870, ENST00000394764, NP_060098, ENST00000265149, ENST00000540549.1, ENST00000513237
Statistics: ClinVar(37) gnomAD(1218) COSMIC(2634)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000265149 ENST00000305737 You are here now! ENST00000380013 ENST00000394764 You are here now! ENST00000413648 ENST00000513237 ENST00000514870 ENST00000540549 ENST00000545826 NP_001120680 NP_060098 You are here now!


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

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Primary Myelofibrosis Hemic and Lymphatic Diseases ; 0.499 0.586
Refractory anemias Hemic and Lymphatic Diseases ; 0.499 0.586
Refractory anaemia with excess blasts Hemic and Lymphatic Diseases ; 0.499 0.586
Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.499 0.586
Cytopenia N/A 0.499 0.586
Angioimmunoblastic Lymphadenopathy Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.499 0.586
Leukemia, Myelocytic, Acute Neoplasms ; 0.499 0.586
Leukemia, Myelomonocytic, Chronic Neoplasms ; Hemic and Lymphatic Diseases ; 0.499 0.586
Acute Promyelocytic Leukemia Neoplasms ; 0.499 0.586
Myelofibrosis N/A 0.499 0.586
Neoplasm Recurrence, Local Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.499 0.586
Polycythemia Vera Neoplasms ; Hemic and Lymphatic Diseases ; 0.499 0.586
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.499 0.586
Sezary Syndrome Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.499 0.586
Thrombocythemia, Essential Hemic and Lymphatic Diseases ; 0.499 0.586
Peripheral T-Cell Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.499 0.586
Congenital anemia N/A 0.499 0.586
Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.499 0.586
secondary acute myeloid leukemia N/A 0.499 0.586
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.499 0.586
Refractory anemia with ringed sideroblasts N/A 0.499 0.586
Chromophobe Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.499 0.586
Sarcomatoid Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.499 0.586
Collecting Duct Carcinoma of the Kidney Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.499 0.586
Acute myeloid leukemia with multilineage dysplasia N/A 0.499 0.586
Papillary Renal Cell Carcinoma Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.499 0.586
Hematopoetic Myelodysplasia Hemic and Lymphatic Diseases ; 0.499 0.586
MYELODYSPLASTIC SYNDROME Hemic and Lymphatic Diseases ; 0.499 0.586
NO RESULT FOUND
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