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

Inframe Deletion

Missense Variant

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
2-8822301-A-G	ENST00000234091	p.Lys2Lys	Synonymous Variant	0	0	0	rs781778827
2-8822301-A-G	ENST00000331129	p.Lys2Lys	Synonymous Variant	0	0	0	rs781778827
2-8822301-A-G	ENST00000396290	p.Lys2Lys	Synonymous Variant	0	0	0	rs781778827
2-8822304-C-T	ENST00000234091	p.Ala3Ala	Synonymous Variant	0	0	0	rs949029751
2-8822304-C-T	ENST00000331129	p.Ala3Ala	Synonymous Variant	0	0	0	rs949029751
2-8822304-C-T	ENST00000396290	p.Ala3Ala	Synonymous Variant	0	0	0	rs949029751
2-8822307-C-T	ENST00000234091	p.Phe4Phe	Synonymous Variant	3	31368	0.000096	rs200785774
2-8822307-C-T	ENST00000331129	p.Phe4Phe	Synonymous Variant	3	31368	0.000096	rs200785774
2-8822307-C-T	ENST00000396290	p.Phe4Phe	Synonymous Variant	3	31368	0.000096	rs200785774
2-8822308-A-C	ENST00000234091	p.Ser5Arg	Missense Variant	0	0	0	rs1280940630
2-8822308-A-C	ENST00000331129	p.Ser5Arg	Missense Variant	0	0	0	rs1280940630
2-8822308-A-C	ENST00000396290	p.Ser5Arg	Missense Variant	0	0	0	rs1280940630
2-8822311-C-G	ENST00000234091	p.Pro6Ala	Missense Variant	0	0	0	rs756541338
2-8822311-C-G	ENST00000331129	p.Pro6Ala	Missense Variant	0	0	0	rs756541338
2-8822311-C-G	ENST00000396290	p.Pro6Ala	Missense Variant	0	0	0	rs756541338
2-8822311-C-T	ENST00000234091	p.Pro6Ser	Missense Variant	0	0	0	rs756541338
2-8822311-C-T	ENST00000331129	p.Pro6Ser	Missense Variant	0	0	0	rs756541338
2-8822311-C-T	ENST00000396290	p.Pro6Ser	Missense Variant	0	0	0	rs756541338
2-8822313-C-A	ENST00000234091	p.Pro6Pro	Synonymous Variant	1	31342	0.000032	rs924843991
2-8822313-C-A	ENST00000331129	p.Pro6Pro	Synonymous Variant	1	31342	0.000032	rs924843991

Showing 1 to 20 of 453 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
ID2	Q02363	Ubiquitination	12	K12-ub	sPVRSVRkNsLsDHS	14.92	21260956
ID2	Q02363	Phosphorylation	14	S14-p	VRSVRkNsLsDHSLG	14.92	4706868
ID2	Q02363	Phosphorylation	16	S16-p	SVRkNsLsDHSLGIS	14.92	54414405
ID2	Q02363	Phosphorylation	27	T27-p	LGISRSKtPVDDPMS	14.92	4706880
ID2	Q02363	Phosphorylation	43	Y43-p	LYNMNDCysKLKELV	14.92	23114913
ID2	Q02363	Phosphorylation	44	S44-p	YNMNDCysKLKELVP	14.92	23114910
ID2	Q02363	Phosphorylation	5	S5-p	___MKAFsPVRSVRk	14.92	451265

Showing 1 to 7 of 7 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Insertion - Frameshift

Insertion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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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
ID2	ENST00000234091	HCC87T	liver	carcinoma	23345409	c.349-80A>C	p.?	Unknown	NEUTRAL	.10912	Confirmed somatic variant	PMID: N/A	primary	0
ID2	ENST00000234091	TCGA-SW-A7EA-01	stomach	carcinoma	23345995	c.-19G>A	p.?	Unknown	PATHOGENIC	.87837	Confirmed somatic variant	PMID: N/A	primary	0
ID2	ENST00000234091	TCGA-CU-A72E-01	urinary_tract	carcinoma	23345244	c.365C>G	p.S122C	Substitution - Missense	PATHOGENIC	.97627	Confirmed somatic variant	PMID: N/A	primary	122
ID2	ENST00000234091	TCGA-05-4424-01	lung	carcinoma	23344945	c.-32C>T	p.?	Unknown	PATHOGENIC	.91583	Confirmed somatic variant	PMID: N/A	primary	0
ID2	ENST00000234091	HCC1833	lung	carcinoma	23344795	c.305C>T	p.P102L	Substitution - Missense	PATHOGENIC	.96931	Variant of unknown origin	PMID: 29681454	NS	102
ID2	ENST00000234091	TCGA-AJ-A3EK-01	endometrium	carcinoma	23345523	c.*650G>A	p.?	Unknown	PATHOGENIC	.85944	Confirmed somatic variant	PMID: N/A	NS	0
ID2	ENST00000234091	TCGA-CV-7433-01	upper_aerodigestive_tract	carcinoma	23345477	c.330C>T	p.I110=	Substitution - coding silent	PATHOGENIC	.95677	Confirmed somatic variant	PMID: N/A	NS	110
ID2	ENST00000234091	MBC067T	breast	carcinoma	23345486	c.303G>A	p.T101=	Substitution - coding silent	PATHOGENIC	.80116	Variant of unknown origin	PMID: 31340200	NS	101
ID2	ENST00000234091	TCGA-EM-A1YB-01	thyroid	carcinoma	23345263	c.242C>T	p.S81L	Substitution - Missense	PATHOGENIC	.97658	Confirmed somatic variant	PMID: N/A	NS	81
ID2	ENST00000234091	DA14045	endometrium	carcinoma	23345317	c.-387-214C>A	p.?	Unknown	NEUTRAL	.02706	Confirmed somatic variant	PMID: N/A	primary	0
ID2	ENST00000234091	PCSI_0210_Pa_P_526	pancreas	carcinoma	23346120	c.*7+245G>A	p.?	Unknown	NEUTRAL	.05521	Confirmed somatic variant	PMID: N/A	primary	0
ID2	ENST00000234091	TCGA-DD-AACH-01	liver	carcinoma	23346108	c.-104A>C	p.?	Unknown	PATHOGENIC	.99071	Confirmed somatic variant	PMID: N/A	primary	0
ID2	ENST00000234091	GCTK_16444_T	stomach	carcinoma	23344847	c.7+61_7+62del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
ID2	ENST00000234091	PCSI_0572_Pa_P_526	pancreas	carcinoma	23345507	c.-387-862A>C	p.?	Unknown	NEUTRAL	.06649	Confirmed somatic variant	PMID: N/A	primary	0
ID2	ENST00000234091	H_QD-WAPAT079-V0DHRD	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	23346050	c.*7+41C>A	p.?	Unknown	NEUTRAL	.1304	Confirmed somatic variant	PMID: 29563506	NS	0
ID2	ENST00000234091	H_QD-WAPAT079-V0DHRD	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	23346045	c.70C>A	p.R24=	Substitution - coding silent	PATHOGENIC	.99004	Confirmed somatic variant	PMID: 29563506	NS	24
ID2	ENST00000234091	tumor_4169012	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	23345932	c.289C>T	p.Q97*	Substitution - Nonsense	PATHOGENIC	.79231	Confirmed somatic variant	PMID: N/A	primary	97
ID2	ENST00000234091	TCGA-C4-A0F7-01	urinary_tract	carcinoma	23345332	c.-105G>A	p.?	Unknown	PATHOGENIC	.99321	Confirmed somatic variant	PMID: N/A	primary	0
ID2	ENST00000234091	CHC1568T	liver	carcinoma	23345896	c.24G>T	p.R8S	Substitution - Missense	PATHOGENIC	.96522	Confirmed somatic variant	PMID: N/A	primary	8
ID2	ENST00000234091	HCC41T	liver	carcinoma	23346129	c.-568C>A	p.?	Unknown		.56222	Variant of unknown origin	PMID: N/A	primary	0

Showing 1 to 20 of 159 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
PF00010	HLH	Helix-loop-helix DNA-binding domain	35-76			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.592	0.552
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.592	0.552
Acute Myeloid Leukemia, M1	Neoplasms ;	0.592	0.552
Dermatologic disorders	Skin and Connective Tissue Diseases ;	0.592	0.552
Thyroid Diseases	Endocrine System Diseases ;	0.592	0.552
Small cell carcinoma of lung	Neoplasms ; Respiratory Tract Diseases ;	0.592	0.552
Arsenic Poisoning, Inorganic	Nervous System Diseases ; Chemically-Induced Disorders ;	0.592	0.552
Nervous System, Organic Arsenic Poisoning	Nervous System Diseases ; Chemically-Induced Disorders ;	0.592	0.552
Arsenic Poisoning	Nervous System Diseases ; Chemically-Induced Disorders ;	0.592	0.552
Arsenic Encephalopathy	Nervous System Diseases ; Chemically-Induced Disorders ;	0.592	0.552
Arsenic Induced Polyneuropathy	Nervous System Diseases ; Chemically-Induced Disorders ;	0.592	0.552
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.592	0.552
NO RESULT FOUND

Description:	inhibitor of DNA binding 2 [Source:NCBI gene;Acc:693394]
Synonyms:
Other ID(s):	ENSMMUG00000003237
Protein Accession Numbers:	XP_014967129
Statistics:	ClinVar(1) gnomAD(453) COSMIC(159) PTM(7)

Classification of Clinicial Significance of ClinVar Data