chr13:32336458:TATT> Detail (hg38) (BRCA2)

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

Genome

Assembly	Position
hg19	chr13:32,910,595-32,910,598
hg38	chr13:32,336,458-32,336,461

HGVS

BRCA2

Type	Transcript	Protein
RefSeq	NM_000059.3:c.2103_2106delTATT	NP_000050.2:p.Phe701LeufsTer28
Ensemble	ENST00000380152.8:c.2103_2106delTATT	ENST00000380152.8:p.Phe701LeufsTer28
	ENST00000530893.7:c.1734_1737delTATT	ENST00000530893.7:p.Phe578LeufsTer28
	ENST00000544455.6:c.2103_2106delTATT	ENST00000544455.6:p.Phe701LeufsTer28
	ENST00000700202.2:c.2103_2106delTATT	ENST00000700202.2:p.Phe701LeufsTer28
	ENST00000713678.1:c.2103_2106delTATT	ENST00000713678.1:p.Phe701LeufsTer28
	ENST00000713680.1:c.2103_2106delTATT	ENST00000713680.1:p.Phe701LeufsTer28

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

BRCA2

Type	Database	ID	Link
Gene	MIM	600185	OMIM
	HGNC	1101	HGNC
	Ensembl	ENSG00000139618	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
0.240	Breast-ovarian cancer, familial, susceptibility to, 2	NA	CLINVAR		Detail
0.174	Breast Cancer, Familial	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: rs80359324 dbSNP
Genome: hg38
Position: chr13:32,336,458-32,336,461
Variant Type: snv
Reference Allele: TATT
Alternative Allele: -

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