chr4:113373171:A>G Detail (hg38) (ANK2)

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

Genome

Assembly	Position
hg19	chr4:114,294,327-114,294,327 View the variant detail on this assembly version.
hg38	chr4:113,373,171-113,373,171

HGVS

ANK2

Type	Transcript	Protein
RefSeq	NM_001148.4:c.11692A>G	NP_001139.3:p.Lys3898Glu
	NM_020977.3:c.5437A>G	NP_066187.2:p.Lys1813Glu
	NM_001127493.1:c.5410A>G	NP_001120965.1:p.Lys1804Glu
Ensemble	ENST00000264366.10:c.11593A>G	ENST00000264366.10:p.Lys3865Glu
	ENST00000357077.9:c.11692A>G	ENST00000357077.9:p.Lys3898Glu
	ENST00000394537.7:c.5437A>G	ENST00000394537.7:p.Lys1813Glu
	ENST00000503423.6:c.11530A>G	ENST00000503423.6:p.Lys3844Glu
	ENST00000505342.6:c.2824A>G	ENST00000505342.6:p.Lys942Glu
	ENST00000506344.6:c.11926A>G	ENST00000506344.6:p.Lys3976Glu
	ENST00000506722.5:c.5410A>G	ENST00000506722.5:p.Lys1804Glu
	ENST00000509550.5:c.2965A>G	ENST00000509550.5:p.Lys989Glu
	ENST00000671704.1:c.5251A>G	ENST00000671704.1:p.Lys1751Glu
	ENST00000671727.1:c.5431A>G	ENST00000671727.1:p.Lys1811Glu
	ENST00000671756.1:c.5275A>G	ENST00000671756.1:p.Lys1759Glu
	ENST00000671762.1:c.5566A>G	ENST00000671762.1:p.Lys1856Glu
	ENST00000671793.1:c.5467A>G	ENST00000671793.1:p.Lys1823Glu
	ENST00000671809.1:c.11566A>G	ENST00000671809.1:p.Lys3856Glu
	ENST00000671825.1:c.5374A>G	ENST00000671825.1:p.Lys1792Glu
	ENST00000671854.1:c.5176A>G	ENST00000671854.1:p.Lys1726Glu
	ENST00000671893.1:c.5053A>G	ENST00000671893.1:p.Lys1685Glu
	ENST00000671906.1:c.11506A>G	ENST00000671906.1:p.Lys3836Glu
	ENST00000671951.1:c.5152A>G	ENST00000671951.1:p.Lys1718Glu
	ENST00000671971.1:c.11737A>G	ENST00000671971.1:p.Lys3913Glu
	ENST00000672045.1:c.5275A>G	ENST00000672045.1:p.Lys1759Glu
	ENST00000672068.1:c.11623A>G	ENST00000672068.1:p.Lys3875Glu
	ENST00000672088.1:c.5251A>G	ENST00000672088.1:p.Lys1751Glu
	ENST00000672090.1:c.11530A>G	ENST00000672090.1:p.Lys3844Glu
	ENST00000672177.1:c.5287A>G	ENST00000672177.1:p.Lys1763Glu
	ENST00000672209.1:c.11623A>G	ENST00000672209.1:p.Lys3875Glu
	ENST00000672221.1:c.5272A>G	ENST00000672221.1:p.Lys1758Glu
	ENST00000672240.1:c.11773A>G	ENST00000672240.1:p.Lys3925Glu
	ENST00000672246.1:c.5260A>G	ENST00000672246.1:p.Lys1754Glu
	ENST00000672251.1:c.11494A>G	ENST00000672251.1:p.Lys3832Glu
	ENST00000672312.1:c.5275A>G	ENST00000672312.1:p.Lys1759Glu
	ENST00000672315.1:c.5292+3366A>G
	ENST00000672350.1:c.5212A>G	ENST00000672350.1:p.Lys1738Glu
	ENST00000672356.1:c.5152A>G	ENST00000672356.1:p.Lys1718Glu
	ENST00000672362.1:c.5503A>G	ENST00000672362.1:p.Lys1835Glu
	ENST00000672366.1:c.5338A>G	ENST00000672366.1:p.Lys1780Glu
	ENST00000672402.1:c.5467A>G	ENST00000672402.1:p.Lys1823Glu
	ENST00000672411.1:c.3001A>G	ENST00000672411.1:p.Lys1001Glu
	ENST00000672502.1:c.11593A>G	ENST00000672502.1:p.Lys3865Glu
	ENST00000672684.1:c.5176A>G	ENST00000672684.1:p.Lys1726Glu
	ENST00000672696.1:c.5467A>G	ENST00000672696.1:p.Lys1823Glu
	ENST00000672731.1:c.5251A>G	ENST00000672731.1:p.Lys1751Glu
	ENST00000672759.1:c.5152A>G	ENST00000672759.1:p.Lys1718Glu
	ENST00000672779.1:c.5482A>G	ENST00000672779.1:p.Lys1828Glu
	ENST00000672793.1:c.5368A>G	ENST00000672793.1:p.Lys1790Glu
	ENST00000672830.1:c.11629A>G	ENST00000672830.1:p.Lys3877Glu
	ENST00000672854.1:c.5239A>G	ENST00000672854.1:p.Lys1747Glu
	ENST00000672880.1:c.5275A>G	ENST00000672880.1:p.Lys1759Glu
	ENST00000672915.1:c.2824A>G	ENST00000672915.1:p.Lys942Glu
	ENST00000672930.1:c.11530A>G	ENST00000672930.1:p.Lys3844Glu
	ENST00000672934.1:c.11431A>G	ENST00000672934.1:p.Lys3811Glu
	ENST00000672955.1:c.5251A>G	ENST00000672955.1:p.Lys1751Glu
	ENST00000672965.1:c.5311A>G	ENST00000672965.1:p.Lys1771Glu
	ENST00000672986.1:c.4855A>G	ENST00000672986.1:p.Lys1619Glu
	ENST00000672990.1:c.5311A>G	ENST00000672990.1:p.Lys1771Glu
	ENST00000673044.1:c.5292+3366A>G
	ENST00000673048.1:c.2986A>G	ENST00000673048.1:p.Lys996Glu
	ENST00000673109.1:c.11407A>G	ENST00000673109.1:p.Lys3803Glu
	ENST00000673231.1:c.3001A>G	ENST00000673231.1:p.Lys1001Glu
	ENST00000673240.1:c.5482A>G	ENST00000673240.1:p.Lys1828Glu
	ENST00000673255.1:c.5275A>G	ENST00000673255.1:p.Lys1759Glu
	ENST00000673298.1:c.11530A>G	ENST00000673298.1:p.Lys3844Glu
	ENST00000673334.1:c.11448+3366A>G
	ENST00000673353.1:c.2965A>G	ENST00000673353.1:p.Lys989Glu
	ENST00000673363.1:c.11638A>G	ENST00000673363.1:p.Lys3880Glu
	ENST00000673430.1:c.5368A>G	ENST00000673430.1:p.Lys1790Glu
	ENST00000673453.1:c.5296A>G	ENST00000673453.1:p.Lys1766Glu
	ENST00000673536.1:c.4945A>G	ENST00000673536.1:p.Lys1649Glu
	ENST00000673546.1:c.5212A>G	ENST00000673546.1:p.Lys1738Glu
	ENST00000673555.1:c.11623A>G	ENST00000673555.1:p.Lys3875Glu
	ENST00000673573.1:c.11467A>G	ENST00000673573.1:p.Lys3823Glu
	ENST00000705785.1:c.5518A>G	ENST00000705785.1:p.Lys1840Glu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

ANK2

Type	Database	ID	Link
Gene	MIM	106410	OMIM
	HGNC	493	HGNC
	Ensembl	ENSG00000145362	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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2017-07-14	no assertion criteria provided	Wolff-Parkinson-White pattern	de novo	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001148.6(ANK2):c.11692A>G (p.Lys3898Glu) AND Wolff-Parkinson-White pattern	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: -
dbSNP: rs1554597130 dbSNP
Genome: hg38
Position: chr4:113,373,171-113,373,171
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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