ConVarT

GATA2 (GeneID: 2624) | Homo sapiens

Description:	GATA binding protein 2 [Source:HGNC Symbol;Acc:HGNC:4171]
Synonyms:	NFE1B, DCML, MONOMAC, IMD21
Other ID(s):	HGNC:4171, ENSG00000179348
Protein Accession Numbers:	ENST00000341105, NP_116027, ENST00000498200, ENST00000430265, NP_001139134, ENST00000492608, ENST00000341105.2, NP_001139133, ENST00000487848
Statistics:	gnomAD(159)

gnomAD Variants By Annotation

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Start Lost

Synonymous Variant

∙ 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.
ENST00000341105 ENST00000430265 ENST00000487848 ENST00000492608 ENST00000498200 NP_001139133 NP_001139134 NP_116027

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

Start Lost

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
3-128204991-T-C	ENST00000492608	p.Gly150Gly	Synonymous Variant	0	0	0	rs779870565
3-128204992-C-A	ENST00000492608	p.Gly150Val	Missense Variant	0	0	0	rs1173913751
3-128204996-C-T	ENST00000492608	p.Gly149Arg	Missense Variant	1	31354	0.000032	rs753645971
3-128204997-G-A	ENST00000492608	p.Ser148Ser	Synonymous Variant	0	0	0	rs1399340424
3-128204999-T-C	ENST00000492608	p.Ser148Gly	Missense Variant	0	0	0	rs1161655427
3-128205000-C-A	ENST00000492608	p.Gly147Gly	Synonymous Variant	0	0	0	rs1346157383
3-128205005-C-T	ENST00000492608	p.Gly146Ser	Missense Variant	0	0	0	rs778721889
3-128205009-A-C	ENST00000492608	p.Ala144Ala	Synonymous Variant	0	0	0	rs1324429118
3-128205010-G-T	ENST00000492608	p.Ala144Asp	Missense Variant	0	0	0	rs747596994
3-128205011-C-A	ENST00000492608	p.Ala144Ser	Missense Variant	0	0	0	rs771741053
3-128205012-C-T	ENST00000492608	p.Gly143Gly	Synonymous Variant	1	31358	0.000032	rs1428333141
3-128205016-G-A	ENST00000492608	p.Pro142Leu	Missense Variant	0	0	0	rs1308814048
3-128205018-G-A	ENST00000492608	p.Tyr141Tyr	Synonymous Variant	0	0	0	rs781744898
3-128205028-A-G	ENST00000492608	p.Leu138Pro	Missense Variant	1	31330	0.000032	rs746362966
3-128205030-T-C	ENST00000492608	p.Pro137Pro	Synonymous Variant	0	0	0	rs1286155488
3-128205032-G-A	ENST00000492608	p.Pro137Ser	Missense Variant	0	0	0	rs113166293
3-128205034-C-A	ENST00000492608	p.Gly136Val	Missense Variant	1	31364	0.000032	rs1474520167
3-128205035-C-A	ENST00000492608	p.Gly136Cys	Missense Variant	0	0	0	rs770243533
3-128205036-T-C	ENST00000492608	p.Gly135Gly	Synonymous Variant	0	0	0	rs1271153635
3-128205039-A-G	ENST00000492608	p.Pro134Pro	Synonymous Variant	0	0	0	rs1469437295

Showing 1 to 20 of 159 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)

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

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
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Cartilage Diseases	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ;	0.536	0.621
Leukemia, Myelocytic, Acute	Neoplasms ;	0.536	0.621
Lymphatic Diseases	Hemic and Lymphatic Diseases ;	0.536	0.621
Lymphedema	Hemic and Lymphatic Diseases ;	0.536	0.621
Myelodysplasia	N/A	0.536	0.621
Acute Myeloid Leukemia, M1	Neoplasms ;	0.536	0.621
Chondromalacia	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ;	0.536	0.621
Cardiovascular Abnormalities	Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.536	0.621
Juvenile Myelomonocytic Leukemia	Neoplasms ; Hemic and Lymphatic Diseases ;	0.536	0.621
Hematologic Neoplasms	Neoplasms ; Hemic and Lymphatic Diseases ;	0.536	0.621
Craniofacial Abnormalities	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.536	0.621
Milroy Disease	Hemic and Lymphatic Diseases ;	0.536	0.621
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.536	0.621
Hematopoetic Myelodysplasia	Hemic and Lymphatic Diseases ;	0.536	0.621
Emberger syndrome	N/A	0.536	0.621
GATA2 Deficiency	N/A	0.536	0.621
MYELODYSPLASTIC SYNDROME	Hemic and Lymphatic Diseases ;	0.536	0.621
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data