chr16:2129381:C>G Detail (hg19) (TSC2)

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

Genome

Assembly	Position
hg19	chr16:2,129,381-2,129,381
hg38	chr16:2,079,380-2,079,380 View the variant detail on this assembly version.

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_001114382.2:c.3236C>G	NP_001107854.1:p.Ser1079Trp
	NM_001318829.1:c.2960C>G	NP_001305758.1:p.Ser987Trp
	NM_001318827.1:c.2996C>G	NP_001305756.1:p.Ser999Trp
	NM_001318831.1:c.2996C>G	NP_001305760.1:p.Ser999Trp
	NM_001077183.2:c.3104C>G	NP_001070651.1:p.Ser1035Trp
	NM_001318832.1:c.3137C>G	NP_001305761.1:p.Ser1046Trp
	NM_000548.4:c.3236C>G	NP_000539.2:p.Ser1079Trp
Ensemble	ENST00000642797.1:c.3107C>G	ENST00000642797.1:p.Ser1036Trp
	ENST00000350773.9:c.3236C>G	ENST00000350773.9:p.Ser1079Trp
	ENST00000382538.10:c.2960C>G	ENST00000382538.10:p.Ser987Trp
	ENST00000644043.1:c.3107C>G	ENST00000644043.1:p.Ser1036Trp
	ENST00000439673.6:c.2996C>G	ENST00000439673.6:p.Ser999Trp
	ENST00000642365.2:c.3233C>G	ENST00000642365.2:p.Ser1078Trp
	ENST00000646388.1:c.3236C>G	ENST00000646388.1:p.Ser1079Trp
	ENST00000643088.1:c.3104C>G	ENST00000643088.1:p.Ser1035Trp
	ENST00000401874.7:c.3104C>G	ENST00000401874.7:p.Ser1035Trp
	ENST00000642561.1:c.3107C>G	ENST00000642561.1:p.Ser1036Trp
	ENST00000644329.1:c.3104C>G	ENST00000644329.1:p.Ser1035Trp
	ENST00000568454.6:c.3137C>G	ENST00000568454.6:p.Ser1046Trp
	ENST00000644335.1:c.3107C>G	ENST00000644335.1:p.Ser1036Trp
	ENST00000642206.2:c.3152C>G	ENST00000642206.2:p.Ser1051Trp
	ENST00000643946.1:c.3236C>G	ENST00000643946.1:p.Ser1079Trp
	ENST00000642936.1:c.3104C>G	ENST00000642936.1:p.Ser1035Trp
	ENST00000219476.9:c.3236C>G	ENST00000219476.9:p.Ser1079Trp
	ENST00000645186.2:c.3236C>G	ENST00000645186.2:p.Ser1079Trp

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
0.494	tuberous sclerosis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: rs397515087 dbSNP
Genome: hg19
Position: chr16:2,129,381-2,129,381
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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