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

Inframe Insertion

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
21-22370886-G-T	ENST00000400546	p.Ser2Ile	Missense Variant	0	0	0
21-22370886-GCCT-G	ENST00000400546	p.Leu5del	Inframe Deletion	0	0	0
21-22370887-C-A	ENST00000400546	p.Ser2Arg	Missense Variant	0	0	0	rs766486109
21-22370889-T-G	ENST00000400546	p.Leu3Arg	Missense Variant	1	31336	0.000032	rs574569046
21-22370893-C-T	ENST00000400546	p.Leu4Leu	Synonymous Variant	1	31366	0.000032	rs368840931
21-22370896-C-T	ENST00000400546	p.Leu5Leu	Synonymous Variant	0	0	0	rs767146156
21-22370898-C-A	ENST00000400546	p.Ser6Tyr	Missense Variant	1	31382	0.000032	rs757571522
21-22370898-C-T	ENST00000400546	p.Ser6Phe	Missense Variant	0	0	0	rs757571522
21-22370898-CCTT-C	ENST00000400546	p.Phe7del	Inframe Deletion	0	0	0	rs757571522
21-22370899-C-T	ENST00000400546	p.Ser6Ser	Synonymous Variant	3	31372	0.000096	rs201622691
21-22370903-T-C	ENST00000400546	p.Tyr8His	Missense Variant	0	0	0	rs1224629091
21-22370904-A-G	ENST00000400546	p.Tyr8Cys	Missense Variant	0	0	0	rs192751071
21-22370908-G-A	ENST00000400546	p.Leu9Leu	Synonymous Variant	1	31382	0.000032	rs758879590
21-22370909-C-T	ENST00000400546	p.Leu10Leu	Synonymous Variant	0	0	0	rs780577209
21-22370914-G-A	ENST00000400546	p.Gly11Gly	Synonymous Variant	0	0	0	rs1409057439
21-22370919-T-G	ENST00000400546	p.Leu13Arg	Missense Variant	0	0	0	rs1421132580
21-22370922-T-G	ENST00000400546	p.Val14Gly	Missense Variant	0	0	0	rs747068971
21-22370924-A-G	ENST00000400546	p.Ser15Gly	Missense Variant	0	0	0	rs768643146
21-22370925-G-A	ENST00000400546	p.Ser15Asn	Missense Variant	0	0	0	rs776856903
21-22370926-T-G	ENST00000400546	p.Ser15Arg	Missense Variant	0	0	0	rs1305549363

Showing 1 to 20 of 624 entries

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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
NCAM2	O15394	Phosphorylation	116	T116-p	LEIYQKLtFREVVsP	93.05	13309879
NCAM2	O15394	Phosphorylation	122	S122-p	LtFREVVsPQEFKQG	93.05	13309882
NCAM2	O15394	Phosphorylation	451	T451-p	KNTTNLKtYsTGRKM	93.05	34360535
NCAM2	O15394	Phosphorylation	453	S453-p	TTNLKtYsTGRKMIL	93.05	40641182
NCAM2	O15394	Ubiquitination	757	K757-ub	SKELEEGkAAyLKDG	93.05	12252049
NCAM2	O15394	Phosphorylation	760	Y760-p	LEEGkAAyLKDGskE	93.05	25301704
NCAM2	O15394	Phosphorylation	765	S765-p	AAyLKDGskEPIVEM	93.05	4696662
NCAM2	O15394	Ubiquitination	766	K766-ub	AyLKDGskEPIVEMR	93.05	21179694
NCAM2	O15394	Phosphorylation	774	T774-p	EPIVEMRtEDERVTN	93.05	4696667
NCAM2	O15394	Phosphorylation	786	S786-p	VTNHEDGsPVNEPNE	93.05	3147282
NCAM2	O15394	Phosphorylation	794	T794-p	PVNEPNEtTPLTEPE	93.05	3143909
NCAM2	O15394	Acetylation	811	K811-ac	PLKEEDGkEALNPET	93.05	11184457
NCAM2	O15394	Acetylation	836	K836-ac	QSKEDDSkA______	93.05	11184461
NCAM2	O15394	Phosphorylation	91	Y91-p	NIEDAGIyRCQATDA	93.05	25279954

Showing 1 to 14 of 14 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Insertion - Frameshift

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
NCAM2	ENST00000400546	8057490	pancreas	carcinoma	46583296	c.56-62373C>T	p.?	Unknown	NEUTRAL	.01091	Confirmed somatic variant	PMID: N/A	NS	0
NCAM2	ENST00000400546	8057490	pancreas	carcinoma	46583314	c.2078-13953T>C	p.?	Unknown	NEUTRAL	.00407	Confirmed somatic variant	PMID: N/A	NS	0
NCAM2	ENST00000400546	PCSI_0024_Pa_P	pancreas	carcinoma	46548217	c.55+93510G>T	p.?	Unknown	NEUTRAL	.0497	Confirmed somatic variant	PMID: N/A	primary	0
NCAM2	ENST00000400546	AOCS-085-1-2	ovary	carcinoma	46556436	c.737+836T>C	p.?	Unknown	NEUTRAL	.02201	Confirmed somatic variant	PMID: N/A	NS	0
NCAM2	ENST00000400546	RK234_C01	liver	carcinoma	46555573	c.1195+14317A>T	p.?	Unknown	NEUTRAL	.02692	Confirmed somatic variant	PMID: N/A	primary	0
NCAM2	ENST00000400546	PCSI_0024_Pa_P	pancreas	carcinoma	46548231	c.1196-6845G>A	p.?	Unknown	NEUTRAL	.00208	Confirmed somatic variant	PMID: N/A	primary	0
NCAM2	ENST00000400546	AOCS-085-1-2	ovary	carcinoma	46556433	c.56-50102A>G	p.?	Unknown	NEUTRAL	.16314	Confirmed somatic variant	PMID: N/A	NS	0
NCAM2	ENST00000400546	T32	large_intestine	carcinoma	46580026	c.2128G>A	p.A710T	Substitution - Missense	PATHOGENIC	.91741	Confirmed somatic variant	PMID: 27149842	NS	710
NCAM2	ENST00000400546	HCC1897	lung	carcinoma	46544621	c.1039G>A	p.D347N	Substitution - Missense	PATHOGENIC	.83604	Variant of unknown origin	PMID: 29681454	NS	347
NCAM2	ENST00000400546	8057490	pancreas	carcinoma	46583300	c.1044+8691A>G	p.?	Unknown	NEUTRAL	.01144	Confirmed somatic variant	PMID: N/A	NS	0
NCAM2	ENST00000400546	PCSI_0082_Pa_P_526	pancreas	carcinoma	46563960	c.2078-12570T>A	p.?	Unknown	NEUTRAL	.00272	Confirmed somatic variant	PMID: N/A	NS	0
NCAM2	ENST00000400546	8057490	pancreas	carcinoma	46583291	c.55+106498A>T	p.?	Unknown	NEUTRAL	.03572	Confirmed somatic variant	PMID: N/A	NS	0
NCAM2	ENST00000400546	8057490	pancreas	carcinoma	46583307	c.1655-10548C>A	p.?	Unknown	NEUTRAL	.00739	Confirmed somatic variant	PMID: N/A	NS	0
NCAM2	ENST00000400546	CPCG0527-F1	prostate	carcinoma	46567375	c.56-71881dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
NCAM2	ENST00000400546	PCSI_0468_Pa_P_526	pancreas	carcinoma	46562962	c.1195+7579G>A	p.?	Unknown	NEUTRAL	.00406	Confirmed somatic variant	PMID: N/A	primary	0
NCAM2	ENST00000400546	J32_T	lung	carcinoma	46575487	c.55+26212G>A	p.?	Unknown	NEUTRAL	.00544	Confirmed somatic variant	PMID: N/A	NS	0
NCAM2	ENST00000400546	J32_T	lung	carcinoma	46575491	c.55+88948G>A	p.?	Unknown	NEUTRAL	.00992	Confirmed somatic variant	PMID: N/A	NS	0
NCAM2	ENST00000400546	J32_T	lung	carcinoma	46575500	c.130+1397C>A	p.?	Unknown	NEUTRAL	.01445	Confirmed somatic variant	PMID: N/A	NS	0
NCAM2	ENST00000400546	PCSI_0082_Pa_P_526	pancreas	carcinoma	46563948	c.55+61815A>G	p.?	Unknown	NEUTRAL	.00477	Confirmed somatic variant	PMID: N/A	NS	0
NCAM2	ENST00000400546	PCSI_0082_Pa_P_526	pancreas	carcinoma	46557489	c.*117T>C	p.?	Unknown	PATHOGENIC	.81005	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 3,081 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
PF00041	fn3	Fibronectin type III domain	497-581	CL0159	E-set	Homo sapiens
PF00041	fn3	Fibronectin type III domain	593-678	CL0159	E-set	Homo sapiens
PF13927	Ig_3	Immunoglobulin domain	400-479	CL0011	Ig	Homo sapiens
PF07679	I-set	Immunoglobulin I-set domain	211-298	CL0011	Ig	Homo sapiens
PF07679	I-set	Immunoglobulin I-set domain	21-111	CL0011	Ig	Homo sapiens
PF07679	I-set	Immunoglobulin I-set domain	302-397	CL0011	Ig	Homo sapiens
PF07679	I-set	Immunoglobulin I-set domain	115-198	CL0011	Ig	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
NO RESULT FOUND
NO RESULT FOUND

Description:	Fasciclin 2 [Source:FlyBase;Acc:FBgn0000635]
Synonyms:	EG:EG0007.3, CT12301, 1D4, lone1.60, Dmel_CG3665, CG3665, Fas, Dmel\CG3665, anon-EST:Liang-1.60
Other ID(s):	FBgn0000635
Protein Accession Numbers:	NP_525066, NP_001259237, NP_726912, NP_001284855, NP_001259235, NP_726911, NP_001284854
Statistics:	gnomAD(624) COSMIC(3081) PTM(14)

Classification of Clinicial Significance of ClinVar Data