chr16:2084337:TG> Detail (hg38) (TSC2)

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

Information

Genome

Assembly	Position
hg19	chr16:2,134,338-2,134,339
hg38	chr16:2,084,337-2,084,338

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.4115_4116delTG	NP_000539.2:p.Val1372GlyfsTer41
	NM_001114382.2:c.4046_4047delTG	NP_001107854.1:p.Val1349GlyfsTer41
	NM_001318829.1:c.3770_3771delTG	NP_001305758.1:p.Val1257GlyfsTer41
	NM_001077183.2:c.3914_3915delTG	NP_001070651.1:p.Val1305GlyfsTer41
	NM_001318827.1:c.3806_3807delTG	NP_001305756.1:p.Val1269GlyfsTer41
	NM_001318831.1:c.3806_3807delTG	NP_001305760.1:p.Val1269GlyfsTer41
	NM_001318832.1:c.3947_3948delTG	NP_001305761.1:p.Val1316GlyfsTer41
Ensemble	ENST00000219476.9:c.4115_4116delTG	ENST00000219476.9:p.Val1372GlyfsTer41
	ENST00000350773.9:c.4046_4047delTG	ENST00000350773.9:p.Val1349GlyfsTer41
	ENST00000382538.10:c.3770_3771delTG	ENST00000382538.10:p.Val1257GlyfsTer41
	ENST00000401874.7:c.3914_3915delTG	ENST00000401874.7:p.Val1305GlyfsTer41
	ENST00000439673.6:c.3806_3807delTG	ENST00000439673.6:p.Val1269GlyfsTer41
	ENST00000568454.6:c.3947_3948delTG	ENST00000568454.6:p.Val1316GlyfsTer41
	ENST00000642206.2:c.3962_3963delTG	ENST00000642206.2:p.Val1321GlyfsTer41
	ENST00000642365.2:c.4112_4113delTG	ENST00000642365.2:p.Val1371GlyfsTer41
	ENST00000642561.1:c.3986_3987delTG	ENST00000642561.1:p.Val1329GlyfsTer41
	ENST00000642797.1:c.3917_3918delTG	ENST00000642797.1:p.Val1306GlyfsTer41
	ENST00000642936.1:c.3983_3984delTG	ENST00000642936.1:p.Val1328GlyfsTer41
	ENST00000643088.1:c.3914_3915delTG	ENST00000643088.1:p.Val1305GlyfsTer41
	ENST00000643946.1:c.4046_4047delTG	ENST00000643946.1:p.Val1349GlyfsTer41
	ENST00000644043.1:c.3986_3987delTG	ENST00000644043.1:p.Val1329GlyfsTer41
	ENST00000644329.1:c.3914_3915delTG	ENST00000644329.1:p.Val1305GlyfsTer41
	ENST00000644335.1:c.3917_3918delTG	ENST00000644335.1:p.Val1306GlyfsTer41
	ENST00000645186.2:c.4205_4206delTG	ENST00000645186.2:p.Val1402GlyfsTer41
	ENST00000646388.1:c.4115_4116delTG	ENST00000646388.1:p.Val1372GlyfsTer41

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: rs137854368 dbSNP
Genome: hg38
Position: chr16:2,084,337-2,084,338
Variant Type: snv
Reference Allele: TG
Alternative Allele: -

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