chr16:2129351:TG> Detail (hg19) (TSC2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr16:2,129,351-2,129,352
hg38	chr16:2,079,350-2,079,351

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_001077183.2:c.3074_3075delTG	NP_001070651.1:p.Val1025AspfsTer98
	NM_001318832.1:c.3107_3108delTG	NP_001305761.1:p.Val1036AspfsTer98
	NM_000548.4:c.3206_3207delTG	NP_000539.2:p.Val1069AspfsTer98
	NM_001318829.1:c.2930_2931delTG	NP_001305758.1:p.Val977AspfsTer98
	NM_001114382.2:c.3206_3207delTG	NP_001107854.1:p.Val1069AspfsTer98
	NM_001318827.1:c.2966_2967delTG	NP_001305756.1:p.Val989AspfsTer98
	NM_001318831.1:c.2966_2967delTG	NP_001305760.1:p.Val989AspfsTer98
Ensemble	ENST00000643946.1:c.3206_3207delTG	ENST00000643946.1:p.Val1069AspfsTer98
	ENST00000644335.1:c.3077_3078delTG	ENST00000644335.1:p.Val1026AspfsTer98
	ENST00000642206.2:c.3122_3123delTG	ENST00000642206.2:p.Val1041AspfsTer98
	ENST00000644329.1:c.3074_3075delTG	ENST00000644329.1:p.Val1025AspfsTer98
	ENST00000643088.1:c.3074_3075delTG	ENST00000643088.1:p.Val1025AspfsTer98
	ENST00000401874.7:c.3074_3075delTG	ENST00000401874.7:p.Val1025AspfsTer98
	ENST00000642561.1:c.3077_3078delTG	ENST00000642561.1:p.Val1026AspfsTer98
	ENST00000568454.6:c.3107_3108delTG	ENST00000568454.6:p.Val1036AspfsTer98
	ENST00000645186.2:c.3206_3207delTG	ENST00000645186.2:p.Val1069AspfsTer98
	ENST00000642936.1:c.3074_3075delTG	ENST00000642936.1:p.Val1025AspfsTer98
	ENST00000219476.9:c.3206_3207delTG	ENST00000219476.9:p.Val1069AspfsTer98
	ENST00000644043.1:c.3077_3078delTG	ENST00000644043.1:p.Val1026AspfsTer98
	ENST00000382538.10:c.2930_2931delTG	ENST00000382538.10:p.Val977AspfsTer98
	ENST00000642797.1:c.3077_3078delTG	ENST00000642797.1:p.Val1026AspfsTer98
	ENST00000350773.9:c.3206_3207delTG	ENST00000350773.9:p.Val1069AspfsTer98
	ENST00000642365.2:c.3203_3204delTG	ENST00000642365.2:p.Val1068AspfsTer98
	ENST00000646388.1:c.3206_3207delTG	ENST00000646388.1:p.Val1069AspfsTer98
	ENST00000439673.6:c.2966_2967delTG	ENST00000439673.6:p.Val989AspfsTer98

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

TSC2

Type	Database	ID	Link
Gene	MIM	191092	OMIM
	HGNC	12363	HGNC
	Ensembl	ENSG00000103197	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.441	TUBEROUS SCLEROSIS 2 (disorder)	NA	CLINVAR		Detail
0.494	tuberous sclerosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs137854076 dbSNP
Genome: hg19
Position: chr16:2,129,351-2,129,352
Variant Type: snv
Reference Allele: TG
Alternative Allele: -

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