ConVarT

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

Frameshift Variant

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
12-4383210-G-T	ENST00000261254	p.Glu2Ter	Stop Gained	0	0	0	rs1219274844
12-4383211-A-T	ENST00000261254	p.Glu2Val	Missense Variant	0	0	0	rs1278580204
12-4383216-C-T	ENST00000261254	p.Leu4Leu	Synonymous Variant	0	0	0	rs774670428
12-4383219-T-C	ENST00000261254	p.Cys5Arg	Missense Variant	0	0	0	rs1211080900
12-4383220-G-T	ENST00000261254	p.Cys5Phe	Missense Variant	0	0	0	rs745641213
12-4383221-C-T	ENST00000261254	p.Cys5Cys	Synonymous Variant	0	0	0	rs771959269
12-4383224-C-G	ENST00000261254	p.His6Gln	Missense Variant	0	0	0	rs775161299
12-4383228-G-A	ENST00000261254	p.Val8Met	Missense Variant	0	0	0	rs370617608
12-4383230-G-A	ENST00000261254	p.Val8Val	Synonymous Variant	1	31378	0.000032	rs553724162
12-4383231-G-T	ENST00000261254	p.Asp9Tyr	Missense Variant	0	0	0	rs776260684
12-4383232-A-G	ENST00000261254	p.Asp9Gly	Missense Variant	0	0	0	rs1374564893
12-4383235-C-T	ENST00000261254	p.Pro10Leu	Missense Variant	0	0	0	rs200897111
12-4383236-G-C	ENST00000261254	p.Pro10Pro	Synonymous Variant	0	0	0	rs1335185877
12-4383239-C-T	ENST00000261254	p.Val11Val	Synonymous Variant	0	0	0	rs371641860
12-4383242-C-T	ENST00000261254	p.Arg12Arg	Synonymous Variant	0	0	0	rs374125669
12-4383247-C-T	ENST00000261254	p.Ala14Val	Missense Variant	0	0	0	rs1278982864
12-4383249-G-A	ENST00000261254	p.Val15Met	Missense Variant	0	0	0	rs1374736402
12-4383249-G-C	ENST00000261254	p.Val15Leu	Missense Variant	0	0	0	rs1374736402
12-4383250-T-G	ENST00000261254	p.Val15Gly	Missense Variant	0	0	0	rs1242864601
12-4383251-G-C	ENST00000261254	p.Val15Val	Synonymous Variant	1	31368	0.000032	rs1301716232

Showing 1 to 20 of 180 entries

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Post-translational Modifications (PTMs)

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
CCND2	P30279	Ubiquitination	113	K113-ub	MFLASKLkETSPLTA	33.07	15386100
CCND2	P30279	Ubiquitination	173	K173-ub	KLPQQREkLSLIRKH	33.07	603484744
CCND2	P30279	Ubiquitination	244	K244-ub	NTDVDCLkACQEQIE	33.07	15386106
CCND2	P30279	Phosphorylation	269	S269-p	RQDQRDGsKsEDELD	33.07	469199
CCND2	P30279	Phosphorylation	271	S271-p	DQRDGsKsEDELDQA	33.07	469200
CCND2	P30279	Phosphorylation	279	S279-p	EDELDQAstPtDVRD	33.07	469201
CCND2	P30279	Phosphorylation	280	T280-p	DELDQAstPtDVRDI	33.07	469202
CCND2	P30279	Phosphorylation	282	T282-p	LDQAstPtDVRDIDL	33.07	469203
CCND2	P30279	Ubiquitination	45	K45-ub	LPQCSYFkCVQkDIQ	33.07	63726492
CCND2	P30279	Ubiquitination	49	K49-ub	SYFkCVQkDIQPYMR	33.07	15386103

Showing 1 to 10 of 10 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Complex - Frameshift

Deletion - Frameshift

Deletion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

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
CCND2	ENST00000261254	P-0010245-T01-IM5	breast	carcinoma	21450477	c.532C>T	p.R178C	Substitution - Missense	PATHOGENIC	.95538	Confirmed somatic variant	PMID: 30205045	metastasis	178
CCND2	ENST00000261254	YUZINO	skin	malignant_melanoma	21450019	c.418G>A	p.E140K	Substitution - Missense	PATHOGENIC	.96049	Confirmed somatic variant	PMID: 22842228	metastasis	140
CCND2	ENST00000261254	PD2163a	kidney	carcinoma	21450835	c.785G>T	p.R262L	Substitution - Missense	PATHOGENIC	.86222	Confirmed somatic variant	PMID: 20054297	primary	262
CCND2	ENST00000261254	286C	thyroid	carcinoma	21449130	c.635G>T	p.C212F	Substitution - Missense	PATHOGENIC	.97792	Confirmed somatic variant	PMID: N/A	primary	212
CCND2	ENST00000261254	2014_Lung_sq_100_T	lung	carcinoma	21449946	c.*1665G>T	p.?	Unknown	PATHOGENIC	.92262	Confirmed somatic variant	PMID: N/A	primary	0
CCND2	ENST00000261254	0031_CRUK_PC_0031_T1_DNA	prostate	carcinoma	21447682	c.721-773C>T	p.?	Unknown	NEUTRAL	.02678	Confirmed somatic variant	PMID: N/A	primary	0
CCND2	ENST00000261254	8058336	pancreas	carcinoma	21448394	c.571+1393G>A	p.?	Unknown	NEUTRAL	.07789	Confirmed somatic variant	PMID: N/A	NS	0
CCND2	ENST00000261254	P-0006090-T01-IM5	breast	carcinoma	21448019	c.4G>A	p.E2K	Substitution - Missense	PATHOGENIC	.98185	Confirmed somatic variant	PMID: 28481359	metastasis	2
CCND2	ENST00000261254	RK107_C01	liver	carcinoma	21450599	c.571+3378A>G	p.?	Unknown	NEUTRAL	.06863	Variant of unknown origin	PMID: N/A	primary	0
CCND2	ENST00000261254	TCGA-D3-A5GO-06	skin	malignant_melanoma	21447917	c.817G>A	p.D273N	Substitution - Missense	PATHOGENIC	.94749	Confirmed somatic variant	PMID: N/A	NS	273
CCND2	ENST00000261254	J09	central_nervous_system	glioma	21449163	c.724T>C	p.C242R	Substitution - Missense	PATHOGENIC	.94973	Confirmed somatic variant	PMID: 29263181	NS	242
CCND2	ENST00000261254	P-0010107-T01-IM5	genital_tract	germ_cell_tumour	21449436	c.502_513delinsATCA	p.P168Ifs*23	Complex - frameshift			Confirmed somatic variant	PMID: 28481359	metastasis	168
CCND2	ENST00000261254	P-0010107-T01-IM5	genital_tract	germ_cell_tumour	21449429	c.490_495delinsAGAG	p.L164Rfs*29	Complex - frameshift			Confirmed somatic variant	PMID: 28481359	metastasis	164
CCND2	ENST00000261254	PCSI_0230_Pa_P_526	pancreas	carcinoma	21447666	c.412-228C>A	p.?	Unknown	PATHOGENIC	.8367	Confirmed somatic variant	PMID: N/A	primary	0
CCND2	ENST00000261254	5-VS056-T1	skin	carcinoma	21450044	c.848A>T	p.D283V	Substitution - Missense	PATHOGENIC	.96906	Confirmed somatic variant	PMID: 26950094	NS	283
CCND2	ENST00000261254	LP6008141-DNA_G01	oesophagus	carcinoma	21450852	c.571+406G>T	p.?	Unknown		.58415	Confirmed somatic variant	PMID: N/A	primary	0
CCND2	ENST00000261254	AOCS-135-3-1	ovary	carcinoma	21448466	c.720+3527G>T	p.?	Unknown	NEUTRAL	.17145	Confirmed somatic variant	PMID: N/A	NS	0
CCND2	ENST00000261254	PD13767a	breast	carcinoma	21448114	c.720+2310G>A	p.?	Unknown	NEUTRAL	.13937	Confirmed somatic variant	PMID: N/A	NS	0
CCND2	ENST00000261254	T4430	large_intestine	carcinoma	21448825	c.849C>T	p.D283=	Substitution - coding silent	NEUTRAL	.19288	Confirmed somatic variant	PMID: 27149842	NS	283
CCND2	ENST00000261254	RK079_C01	liver	carcinoma	21450931	c.572-1297T>G	p.?	Unknown	NEUTRAL	.06229	Variant of unknown origin	PMID: N/A	primary	0

Showing 1 to 20 of 247 entries

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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	25-152	CL0065	Cyclin	Homo sapiens
PF02984	Cyclin_C	Cyclin, C-terminal domain	154-282	CL0065	Cyclin	Homo sapiens

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

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:	ClinVar(27) gnomAD(180) COSMIC(247) PTM(10)

Classification of Clinicial Significance of ClinVar Data