ConVarT

ANXA2 (GeneID: 302) | Homo sapiens

Description:	annexin A2 [Source:HGNC Symbol;Acc:HGNC:537]
Synonyms:	P36, HEL-S-270, ANX2, PC2D, LPC2, CAL1H, PAP-IV, LIP2, ANX2L4
Other ID(s):	HGNC:537, ENSG00000182718
Protein Accession Numbers:	ENST00000559725, ENST00000560466, ENST00000451270, ENST00000558985, ENST00000559350, ENST00000560165, NP_001129487, ENST00000332680, ENST00000558169, ENST00000559818, ENST00000561022, ENST00000557906, ENST00000558998, ENST00000559467, ENST00000560389, ENST00000421017, ENST00000558558, ENST00000559176, ENST00000560014, NP_001002858, ENST00000558132, ENST00000559780, ENST00000560468, ENST00000557904, ENST00000558986, ENST00000559370, ENST00000560367, NP_004030, ENST00000396024, ENST00000558503, ENST00000559113, ENST00000559956, NP_001002857, ENST00000557986
Statistics:	gnomAD(236) PTM(104)

Post translational modifications (PTM) by Type

Acetylation

Methylation

Phosphorylation

Sumoylation

Ubiquitination

∙ 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.
ENST00000396024 ENST00000421017 ENST00000451270 ENST00000557904 ENST00000557906 ENST00000557986 ENST00000558132 ENST00000558169 ENST00000558503 ENST00000558558 ENST00000558985 ENST00000558986 ENST00000558998 ENST00000559113 ENST00000559176 ENST00000559350 ENST00000559370 ENST00000559467 ENST00000559725 ENST00000559780 ENST00000559818 ENST00000559956 ENST00000560014 ">ENST00000332680

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

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Filter
15-60643938-C-T	ENST00000559818	p.Ala255Thr	Missense Variant	0	0	0	rs754340964
15-60643939-A-G	ENST00000559818	p.Asn254Asn	Synonymous Variant	1	31376	0.000032	rs1325497789
15-60643952-C-T	ENST00000559818	p.Gly250Glu	Missense Variant	0	0	0	rs757848231
15-60643957-A-C	ENST00000559818	p.Val248Val	Synonymous Variant	0	0	0	rs779634258
15-60643963-T-C	ENST00000559818	p.Lys246Lys	Synonymous Variant	0	0	0	rs745934073
15-60643967-C-T	ENST00000559818	p.Arg245Lys	Missense Variant	0	0	0	rs758443986
15-60643968-T-C	ENST00000559818	p.Arg245Gly	Missense Variant	0	0	0	rs780280219
15-60643977-C-T	ENST00000559818	p.Glu242Lys	Missense Variant	0	0	0	rs747214524
15-60643978-C-T	ENST00000559818	p.Leu241Leu	Synonymous Variant	2	31386	0.000064	rs376757847
15-60643980-A-G	ENST00000559818	p.Leu241Leu	Synonymous Variant	1	31390	0.000032	rs1299447504
15-60643981-C-G	ENST00000559818	p.Met240Ile	Missense Variant	0	0	0	rs776413720
15-60643983-T-C	ENST00000559818	p.Met240Val	Missense Variant	1	31386	0.000032	rs371940535	RF
15-60643987-A-G	ENST00000559818	p.Tyr238Tyr	Synonymous Variant	0	0	0	rs769705842
15-60643987-A-T	ENST00000559818	p.Tyr238Ter	Stop Gained	0	0	0	rs769705842
15-60643988-T-C	ENST00000559818	p.Tyr238Cys	Missense Variant	0	0	0	rs1177406532
15-60643998-A-G	ENST00000559818	p.Tyr235His	Missense Variant	0	0	0	rs192656325
15-60644005-G-A	ENST00000559818	p.Tyr232Tyr	Synonymous Variant	0	0	0	rs774007320
15-60644006-T-C	ENST00000559818	p.Tyr232Cys	Missense Variant	1	31392	0.000032	rs1235030162
15-60644008-C-A	ENST00000559818	p.Arg231Ser	Missense Variant	0	0	0	rs1157562770
15-60644009-C-T	ENST00000559818	p.Arg231Lys	Missense Variant	0	0	0	rs1308474907

Showing 1 to 20 of 236 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Sumoylation

Ubiquitination

Show entries

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
ANXA2	P07355	Ubiquitination	10	K10-ub	tVHEILCkLsLEGDH	38.6	63726372
ANXA2	P07355	Acetylation	10	K10-ac	tVHEILCkLsLEGDH	38.6	33364342
ANXA2	P07355	Ubiquitination	104	K104-ub	tVILGLLktPAQyDA	38.6	12307199
ANXA2	P07355	Acetylation	104	K104-ac	tVILGLLktPAQyDA	38.6	11321787
ANXA2	P07355	Phosphorylation	105	T105-p	VILGLLktPAQyDAs	38.6	31863354
ANXA2	P07355	Phosphorylation	109	Y109-p	LLktPAQyDAsELkA	38.6	461957
ANXA2	P07355	Phosphorylation	112	S112-p	tPAQyDAsELkAsMk	38.6	27443679
ANXA2	P07355	Ubiquitination	115	K115-ub	QyDAsELkAsMkGLG	38.6	10839184
ANXA2	P07355	Acetylation	115	K115-ac	QyDAsELkAsMkGLG	38.6	11321775
ANXA2	P07355	Phosphorylation	117	S117-p	DAsELkAsMkGLGtD	38.6	27443685
ANXA2	P07355	Ubiquitination	119	K119-ub	sELkAsMkGLGtDED	38.6	12304384
ANXA2	P07355	Phosphorylation	12	S12-p	HEILCkLsLEGDHst	38.6	450880
ANXA2	P07355	Phosphorylation	123	T123-p	AsMkGLGtDEDsLIE	38.6	3072455
ANXA2	P07355	Phosphorylation	127	S127-p	GLGtDEDsLIEIICs	38.6	3072559
ANXA2	P07355	Phosphorylation	134	S134-p	sLIEIICsRtNQELQ	38.6	23082328
ANXA2	P07355	Phosphorylation	136	T136-p	IEIICsRtNQELQEI	38.6	23082340
ANXA2	P07355	Phosphorylation	147	Y147-p	LQEINRVykEMYkTD	38.6	3426350
ANXA2	P07355	Ubiquitination	148	K148-ub	QEINRVykEMYkTDL	38.6	4953779
ANXA2	P07355	Acetylation	148	K148-ac	QEINRVykEMYkTDL	38.6	11321769
ANXA2	P07355	Ubiquitination	152	K152-ub	RVykEMYkTDLEkDI	38.6	15384528

Showing 1 to 20 of 104 entries

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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**
Osteoporosis, Age-Related	Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ;	0.485	0.793
Squamous cell carcinoma	Neoplasms ;	0.485	0.793
Hepatitis, Toxic	Digestive System Diseases ; Chemically-Induced Disorders ;	0.485	0.793
Leukemia, Myelocytic, Acute	Neoplasms ;	0.485	0.793
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.485	0.793
Liver neoplasms	Neoplasms ; Digestive System Diseases ;	0.485	0.793
Lung Neoplasms	Neoplasms ; Respiratory Tract Diseases ;	0.485	0.793
Animal Mammary Neoplasms	Neoplasms ; Animal Diseases ;	0.485	0.793
Mouth Neoplasms	Neoplasms ; Stomatognathic Diseases ;	0.485	0.793
Acute Myeloid Leukemia, M1	Neoplasms ;	0.485	0.793
Neoplasm Invasiveness	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.485	0.793
Osteoporosis	Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ;	0.485	0.793
Osteoporosis, Senile	Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ;	0.485	0.793
Weight Gain	Pathological Conditions, Signs and Symptoms ;	0.485	0.793
Malignant neoplasm of mouth	Neoplasms ; Stomatognathic Diseases ;	0.485	0.793
Malignant neoplasm of lung	Neoplasms ; Respiratory Tract Diseases ;	0.485	0.793
Malignant neoplasm of liver	Neoplasms ; Digestive System Diseases ;	0.485	0.793
Malignant mesothelioma	Neoplasms ; Respiratory Tract Diseases ;	0.485	0.793
Post-Traumatic Osteoporosis	Musculoskeletal Diseases ; Nutritional and Metabolic Diseases ;	0.485	0.793
Drug-Induced Liver Disease	Digestive System Diseases ; Chemically-Induced Disorders ;	0.485	0.793
Mammary Carcinoma, Animal	Neoplasms ; Animal Diseases ;	0.485	0.793
Hepatitis, Drug-Induced	Digestive System Diseases ; Chemically-Induced Disorders ;	0.485	0.793
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.485	0.793
Drug-Induced Acute Liver Injury	Digestive System Diseases ; Chemically-Induced Disorders ;	0.485	0.793
Chemical and Drug Induced Liver Injury	Digestive System Diseases ; Chemically-Induced Disorders ;	0.485	0.793
Chemically-Induced Liver Toxicity	Digestive System Diseases ; Chemically-Induced Disorders ;	0.485	0.793
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data