ConVarT

ASXL2 (GeneID: 55252) | Homo sapiens

Description:	ASXL transcriptional regulator 2 [Source:HGNC Symbol;Acc:HGNC:23805]
Synonyms:	ASXH2, SHAPNS
Other ID(s):	HGNC:23805, ENSG00000143970
Protein Accession Numbers:	ENST00000404843, NP_060733, ENST00000435504.4, ENST00000336112, NP_001356276, ENST00000435504, ENST00000272341, NP_001356275
Statistics:	ClinVar(66)

ClinVar Pathogenicity of Variations

Benign

Pathogenic

VUS

∙ 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.
ENST00000272341 ENST00000336112 ENST00000404843 ENST00000435504 NP_001356275 NP_001356276 NP_060733

ClinVar Data

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

gnomAD

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
No data available in table

Showing 0 to 0 of 0 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**
Malignant neoplasm of urinary bladder	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.72	0.379
Bladder Neoplasm	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.72	0.379
Hydrocephalus	Nervous System Diseases ;	0.72	0.379
Leukemia, Myelocytic, Acute	Neoplasms ;	0.72	0.379
Acute Myeloid Leukemia, M1	Neoplasms ;	0.72	0.379
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.72	0.379
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.72	0.379
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data