chr2:29209759:C>A Detail (hg38) (ALK)

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Information

Genome

Assembly	Position
hg19	chr2:29,432,625-29,432,625 View the variant detail on this assembly version.
hg38	chr2:29,209,759-29,209,759

Summary

Links

Type	Database	ID	Link
Gene	MIM	105590	OMIM
	HGNC	427	HGNC
	Ensembl	ENSG00000171094	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv6297273	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2018-06-23	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Descrption	Source	Links
NM_004304.5(ALK):c.3836+27G>T AND not provided	ClinVar	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs3738868 dbSNP
Genome: hg38
Position: chr2:29,209,759-29,209,759
Variant Type: snv
Reference Allele: C
Alternative Allele: A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs3738868
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.104
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 1743
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8500
East Asian Allele Counts (ExAC): 481
East Asian Heterozygous Counts (ExAC): 445
East Asian Homozygous Counts (ExAC): 18
East Asian Allele Frequency (ExAC): 0.05658823529411765
Chromosome Counts in All Race (ExAC): 119374
Allele Counts in All Race (ExAC): 3826
Heterozygous Counts in All Race (ExAC): 3044
Homozygous Counts in All Race (ExAC): 391
Allele Frequency in All Race (ExAC): 0.03205053026622213

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