chr16:2121797:AG> Detail (hg19) (TSC2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr16:2,121,797-2,121,798
hg38	chr16:2,071,796-2,071,797

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_001318827.1:c.1848_1849delAG	NP_001305756.1:p.Gly617LeufsTer2
	NM_001318831.1:c.1848_1849delAG	NP_001305760.1:p.Gly617LeufsTer2
	NM_001318829.1:c.1812_1813delAG	NP_001305758.1:p.Gly605LeufsTer2
	NM_001114382.2:c.1959_1960delAG	NP_001107854.1:p.Gly654LeufsTer2
	NM_001077183.2:c.1959_1960delAG	NP_001070651.1:p.Gly654LeufsTer2
	NM_001318832.1:c.1992_1993delAG	NP_001305761.1:p.Gly665LeufsTer2
	NM_000548.4:c.1959_1960delAG	NP_000539.2:p.Gly654LeufsTer2
Ensemble	ENST00000439673.6:c.1848_1849delAG	ENST00000439673.6:p.Gly617LeufsTer2
	ENST00000644329.1:c.1959_1960delAG	ENST00000644329.1:p.Gly654LeufsTer2
	ENST00000645186.2:c.1959_1960delAG	ENST00000645186.2:p.Gly654LeufsTer2
	ENST00000644043.1:c.1959_1960delAG	ENST00000644043.1:p.Gly654LeufsTer2
	ENST00000382538.10:c.1812_1813delAG	ENST00000382538.10:p.Gly605LeufsTer2
	ENST00000642797.1:c.1959_1960delAG	ENST00000642797.1:p.Gly654LeufsTer2
	ENST00000350773.9:c.1959_1960delAG	ENST00000350773.9:p.Gly654LeufsTer2
	ENST00000642365.2:c.1959_1960delAG	ENST00000642365.2:p.Gly654LeufsTer2
	ENST00000646388.1:c.1959_1960delAG	ENST00000646388.1:p.Gly654LeufsTer2
	ENST00000643946.1:c.1959_1960delAG	ENST00000643946.1:p.Gly654LeufsTer2
	ENST00000644335.1:c.1959_1960delAG	ENST00000644335.1:p.Gly654LeufsTer2
	ENST00000642206.2:c.2004_2005delAG	ENST00000642206.2:p.Gly669LeufsTer2
	ENST00000401874.7:c.1959_1960delAG	ENST00000401874.7:p.Gly654LeufsTer2
	ENST00000643088.1:c.1959_1960delAG	ENST00000643088.1:p.Gly654LeufsTer2
	ENST00000642561.1:c.1959_1960delAG	ENST00000642561.1:p.Gly654LeufsTer2
	ENST00000568454.6:c.1992_1993delAG	ENST00000568454.6:p.Gly665LeufsTer2
	ENST00000642936.1:c.1959_1960delAG	ENST00000642936.1:p.Gly654LeufsTer2
	ENST00000219476.9:c.1959_1960delAG	ENST00000219476.9:p.Gly654LeufsTer2

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	COSM6810247	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: rs397515226 dbSNP
Genome: hg19
Position: chr16:2,121,797-2,121,798
Variant Type: snv
Reference Allele: AG
Alternative Allele: -

Genome browser