ConVarT

CCND2 (GeneID: 894) | Homo sapiens

Description:	cyclin D2 [Source:HGNC Symbol;Acc:HGNC:1583]
Synonyms:	KIAK0002, MPPH3
Other ID(s):	HGNC:1583, ENSG00000118971
Protein Accession Numbers:	NP_001750, ENST00000536537, ENST00000261254
Statistics:	gnomAD(125)

gnomAD Variants By Annotation

Coding Sequence Variant

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Stop Retained Variant

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.
ENST00000261254 ENST00000536537 NP_001750

ClinVar Data

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

gnomAD

Coding Sequence Variant

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Stop Retained Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
12-4385230-C-T	ENST00000536537	p.Ter1Ter	Coding Sequence Variant	1	31242	0.000032	rs756058431
12-4385245-G-T	ENST00000536537	p.Gly6Gly	Synonymous Variant	0	0	0	rs777614015
12-4385248-C-T	ENST00000536537	p.Val7Val	Synonymous Variant	0	0	0	rs1424514247
12-4385252-A-T	ENST00000536537	p.Thr9Ser	Missense Variant	0	0	0	rs1189680723
12-4385254-T-A	ENST00000536537	p.Thr9Thr	Synonymous Variant	0	0	0	rs748823991
12-4385257-G-A	ENST00000536537	p.Pro10Pro	Synonymous Variant	0	0	0	rs770403051
12-4385275-C-T	ENST00000536537	p.Leu16Leu	Synonymous Variant	0	0	0	rs745455734
12-4385290-C-T	ENST00000536537	p.Cys21Cys	Synonymous Variant	0	0	0	rs771743347
12-4385302-C-T	ENST00000536537	p.Ala25Ala	Synonymous Variant	0	0	0	rs1311963474
12-4385316-A-G	ENST00000536537	p.Glu30Gly	Missense Variant	0	0	0	rs776929300
12-4385319-C-G	ENST00000536537	p.Thr31Ser	Missense Variant	0	0	0	rs762132499
12-4385322-G-A	ENST00000536537	p.Ser32Asn	Missense Variant	0	0	0	rs765770986	mnv
12-4385323-C-G	ENST00000536537	p.Ser32Arg	Missense Variant	0	0	0	rs773652105	mnv
12-4385326-G-T	ENST00000536537	p.Pro33Pro	Synonymous Variant	0	0	0	rs763529306
12-4385327-C-A	ENST00000536537	p.Leu34Met	Missense Variant	1	31410	0.000032	rs766500677
12-4385334-C-T	ENST00000536537	p.Ala36Val	Missense Variant	0	0	0	rs1345554353
12-4385335-G-C	ENST00000536537	p.Ala36Ala	Synonymous Variant	1	31394	0.000032	rs1487280180
12-4385344-G-T	ENST00000536537	p.Leu39Leu	Synonymous Variant	0	0	0	rs751723166
12-4385356-C-G	ENST00000536537	p.Thr43Thr	Synonymous Variant	0	0	0	rs184590007
12-4385357-G-A	ENST00000536537	p.Asp44Asn	Missense Variant	0	0	0

Showing 1 to 20 of 125 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
PF00134	Cyclin_N	Cyclin, N-terminal domain	74-201	CL0065	Cyclin	Caenorhabditis elegans

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Malignant Neoplasms	Neoplasms ;	0.519	0.655
Malignant tumor of colon	Neoplasms ; Digestive System Diseases ;	0.519	0.655
Colonic Neoplasms	Neoplasms ; Digestive System Diseases ;	0.519	0.655
Diabetes Mellitus, Non-Insulin-Dependent	Nutritional and Metabolic Diseases ; Endocrine System Diseases ;	0.519	0.655
Fibrosis	Pathological Conditions, Signs and Symptoms ;	0.519	0.655
Cardiomegaly	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.519	0.655
Hydrocephalus	Nervous System Diseases ;	0.519	0.655
Leukemia, Myelocytic, Acute	Neoplasms ;	0.519	0.655
Lung Neoplasms	Neoplasms ; Respiratory Tract Diseases ;	0.519	0.655
Acute Myeloid Leukemia, M1	Neoplasms ;	0.519	0.655
Prostatic Neoplasms	Neoplasms ; Male Urogenital Diseases ;	0.519	0.655
Schizophrenia	Mental Disorders ;	0.519	0.655
Myocardial Ischemia	Cardiovascular Diseases ;	0.519	0.655
Polydactyly	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.519	0.655
Malignant neoplasm of lung	Neoplasms ; Respiratory Tract Diseases ;	0.519	0.655
Malignant neoplasm of prostate	Neoplasms ; Male Urogenital Diseases ;	0.519	0.655
Epileptic encephalopathy	N/A	0.519	0.655
Carcinoma of lung	N/A	0.519	0.655
ovarian neoplasm	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ;	0.519	0.655
Malignant neoplasm of ovary	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ;	0.519	0.655
Cardiac Hypertrophy	Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ;	0.519	0.655
Cirrhosis	Pathological Conditions, Signs and Symptoms ;	0.519	0.655
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome	Musculoskeletal Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.519	0.655
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.519	0.655
Alcohol Toxicity	N/A	0.519	0.655
Malformations of Cortical Development	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.519	0.655
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.519	0.655
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3	N/A	0.519	0.655
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data