chr16:2121853:C>G Detail (hg19) (TSC2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr16:2,121,853-2,121,853
hg38	chr16:2,071,852-2,071,852 View the variant detail on this assembly version.

HGVS

TSC2

Type	Transcript	Protein
RefSeq	NM_001318827.1:c.1904C>G	NP_001305756.1:p.Pro635Arg
	NM_001318831.1:c.1904C>G	NP_001305760.1:p.Pro635Arg
	NM_001318832.1:c.2048C>G	NP_001305761.1:p.Pro683Arg
	NM_001318829.1:c.1868C>G	NP_001305758.1:p.Pro623Arg
	NM_000548.4:c.2015C>G	NP_000539.2:p.Pro672Arg
	NM_001077183.2:c.2015C>G	NP_001070651.1:p.Pro672Arg
	NM_001114382.2:c.2015C>G	NP_001107854.1:p.Pro672Arg
Ensemble	ENST00000439673.6:c.1904C>G	ENST00000439673.6:p.Pro635Arg
	ENST00000568454.6:c.2048C>G	ENST00000568454.6:p.Pro683Arg
	ENST00000382538.10:c.1868C>G	ENST00000382538.10:p.Pro623Arg
	ENST00000219476.9:c.2015C>G	ENST00000219476.9:p.Pro672Arg
	ENST00000401874.7:c.2015C>G	ENST00000401874.7:p.Pro672Arg
	ENST00000350773.9:c.2015C>G	ENST00000350773.9:p.Pro672Arg
	ENST00000642206.2:c.2060C>G	ENST00000642206.2:p.Pro687Arg
	ENST00000642365.2:c.2015C>G	ENST00000642365.2:p.Pro672Arg
	ENST00000642561.1:c.2015C>G	ENST00000642561.1:p.Pro672Arg
	ENST00000642797.1:c.2015C>G	ENST00000642797.1:p.Pro672Arg
	ENST00000642936.1:c.2015C>G	ENST00000642936.1:p.Pro672Arg
	ENST00000643088.1:c.2015C>G	ENST00000643088.1:p.Pro672Arg
	ENST00000643946.1:c.2015C>G	ENST00000643946.1:p.Pro672Arg
	ENST00000644043.1:c.2015C>G	ENST00000644043.1:p.Pro672Arg
	ENST00000644329.1:c.2015C>G	ENST00000644329.1:p.Pro672Arg
	ENST00000644335.1:c.2015C>G	ENST00000644335.1:p.Pro672Arg
	ENST00000645186.2:c.2015C>G	ENST00000645186.2:p.Pro672Arg
	ENST00000646388.1:c.2015C>G	ENST00000646388.1:p.Pro672Arg

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Benign
Review star
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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		descending colon	not provided	MGS000041 (TMGS000094)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2022-04-27	criteria provided, single submitter	tuberous sclerosis 2	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000548.5(TSC2):c.2015C>G (p.Pro672Arg) AND Tuberous sclerosis 2	ClinVar	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: -
Genome: hg19
Position: chr16:2,121,853-2,121,853
Variant Type: snv
Reference Allele: C
Alternative Allele: G

Genome browser

chr16:2121853:C>G Detail (hg19) (TSC2)

Genome

HGVS

MGeND

Frequency

Prediction

ClinVar

Image provided by the submitter

Annotations

Overlapped Transcript Coordinates

Overlapped Transcript