chr16:2086794:AAG> 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	chr16:2,136,795-2,136,797
hg38	chr16:2,086,794-2,086,796

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_000548.4:c.4912_4914delAAG	NP_000539.2:p.Lys1638del
	NM_001114382.2:c.4843_4845delAAG	NP_001107854.1:p.Lys1615del
	NM_001318829.1:c.4567_4569delAAG	NP_001305758.1:p.Lys1523del
	NM_001077183.2:c.4711_4713delAAG	NP_001070651.1:p.Lys1571del
	NM_001318827.1:c.4603_4605delAAG	NP_001305756.1:p.Lys1535del
	NM_001318831.1:c.4603_4605delAAG	NP_001305760.1:p.Lys1535del
	NM_001318832.1:c.4744_4746delAAG	NP_001305761.1:p.Lys1582del
Ensemble	ENST00000644043.1:c.4783_4785delAAG	ENST00000644043.1:p.Lys1595del
	ENST00000219476.9:c.4912_4914delAAG	ENST00000219476.9:p.Lys1638del
	ENST00000350773.9:c.4843_4845delAAG	ENST00000350773.9:p.Lys1615del
	ENST00000382538.10:c.4567_4569delAAG	ENST00000382538.10:p.Lys1523del
	ENST00000401874.7:c.4711_4713delAAG	ENST00000401874.7:p.Lys1571del
	ENST00000439673.6:c.4603_4605delAAG	ENST00000439673.6:p.Lys1535del
	ENST00000568454.6:c.4744_4746delAAG	ENST00000568454.6:p.Lys1582del
	ENST00000642206.2:c.4759_4761delAAG	ENST00000642206.2:p.Lys1587del
	ENST00000642365.2:c.4909_4911delAAG	ENST00000642365.2:p.Lys1637del
	ENST00000642561.1:c.4783_4785delAAG	ENST00000642561.1:p.Lys1595del
	ENST00000642797.1:c.4714_4716delAAG	ENST00000642797.1:p.Lys1572del
	ENST00000642936.1:c.4780_4782delAAG	ENST00000642936.1:p.Lys1594del
	ENST00000643088.1:c.4705_4707delAAG	ENST00000643088.1:p.Lys1569del
	ENST00000643946.1:c.4837_4839delAAG	ENST00000643946.1:p.Lys1613del
	ENST00000644329.1:c.4711_4713delAAG	ENST00000644329.1:p.Lys1571del
	ENST00000644335.1:c.4708_4710delAAG	ENST00000644335.1:p.Lys1570del
	ENST00000645186.2:c.5002_5004delAAG	ENST00000645186.2:p.Lys1668del
	ENST00000646388.1:c.4906_4908delAAG	ENST00000646388.1:p.Lys1636del

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	COSM1609078	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: rs137854261 dbSNP
Genome: hg38
Position: chr16:2,086,794-2,086,796
Variant Type: snv
Reference Allele: AAG
Alternative Allele: -

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