chr16:2084402:CT> Detail (hg38) (TSC2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr16:2,134,403-2,134,404
hg38	chr16:2,084,402-2,084,403

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.4180_4181delCT	NP_000539.2:p.Leu1394AlafsTer19
	NM_001114382.2:c.4111_4112delCT	NP_001107854.1:p.Leu1371AlafsTer19
	NM_001318829.1:c.3835_3836delCT	NP_001305758.1:p.Leu1279AlafsTer19
	NM_001077183.2:c.3979_3980delCT	NP_001070651.1:p.Leu1327AlafsTer19
	NM_001318827.1:c.3871_3872delCT	NP_001305756.1:p.Leu1291AlafsTer19
	NM_001318831.1:c.3871_3872delCT	NP_001305760.1:p.Leu1291AlafsTer19
	NM_001318832.1:c.4012_4013delCT	NP_001305761.1:p.Leu1338AlafsTer19
Ensemble	ENST00000219476.9:c.4180_4181delCT	ENST00000219476.9:p.Leu1394AlafsTer19
	ENST00000350773.9:c.4111_4112delCT	ENST00000350773.9:p.Leu1371AlafsTer19
	ENST00000382538.10:c.3835_3836delCT	ENST00000382538.10:p.Leu1279AlafsTer19
	ENST00000401874.7:c.3979_3980delCT	ENST00000401874.7:p.Leu1327AlafsTer19
	ENST00000439673.6:c.3871_3872delCT	ENST00000439673.6:p.Leu1291AlafsTer19
	ENST00000568454.6:c.4012_4013delCT	ENST00000568454.6:p.Leu1338AlafsTer19
	ENST00000642206.2:c.4027_4028delCT	ENST00000642206.2:p.Leu1343AlafsTer19
	ENST00000642365.2:c.4177_4178delCT	ENST00000642365.2:p.Leu1393AlafsTer19
	ENST00000642561.1:c.4051_4052delCT	ENST00000642561.1:p.Leu1351AlafsTer19
	ENST00000642797.1:c.3982_3983delCT	ENST00000642797.1:p.Leu1328AlafsTer19
	ENST00000642936.1:c.4048_4049delCT	ENST00000642936.1:p.Leu1350AlafsTer19
	ENST00000643088.1:c.3979_3980delCT	ENST00000643088.1:p.Leu1327AlafsTer19
	ENST00000643946.1:c.4111_4112delCT	ENST00000643946.1:p.Leu1371AlafsTer19
	ENST00000644043.1:c.4051_4052delCT	ENST00000644043.1:p.Leu1351AlafsTer19
	ENST00000644329.1:c.3979_3980delCT	ENST00000644329.1:p.Leu1327AlafsTer19
	ENST00000644335.1:c.3982_3983delCT	ENST00000644335.1:p.Leu1328AlafsTer19
	ENST00000645186.2:c.4270_4271delCT	ENST00000645186.2:p.Leu1424AlafsTer19
	ENST00000646388.1:c.4180_4181delCT	ENST00000646388.1:p.Leu1394AlafsTer19

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	COSM4745628	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: rs137854363 dbSNP
Genome: hg38
Position: chr16:2,084,402-2,084,403
Variant Type: snv
Reference Allele: CT
Alternative Allele: -

Genome browser