Canonical Allele Identifier: CA396187180

Gene: TK2

Linked Data

• MyVariant Identifiers: chr16:g.66547674A>T (hg19) ; chr16:g.66513771A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513771A>T , CM000678.2:g.66513771A>T	GRCh38
NC_000016.9:g.66547674A>T , CM000678.1:g.66547674A>T	GRCh37
NC_000016.8:g.65105175A>T	NCBI36
NG_016862.1:g.41642T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.491T>A	ENSP00000299697.9:p.Leu164His
ENST00000417693.8:c.605T>A	ENSP00000407469.5:p.Leu202His
ENST00000451102.7:c.566T>A	ENSP00000414334.4:p.Leu189His
ENST00000527284.6:c.563-1705T>A
ENST00000527800.6:c.368T>A	ENSP00000433770.1:p.Leu123His
ENST00000544898.6:c.659T>A MANE Select	ENSP00000440898.2:p.Leu220His
ENST00000567357.6:c.*517T>A	ENSP00000457959.2:n.*517T>A
ENST00000569718.6:c.397T>A	ENSP00000464313.2:p.Ser133Thr
ENST00000620035.5:c.415T>A	ENSP00000483833.2:p.Ser139Thr
ENST00000676538.1:c.242T>A
ENST00000676904.1:c.130T>A
ENST00000677296.1:n.41T>A
ENST00000677379.1:c.300T>A	ENSP00000503672.1:n.300T>A
ENST00000677420.1:c.368T>A	ENSP00000504648.1:p.Leu123His
ENST00000677555.1:c.368T>A	ENSP00000503331.1:p.Leu123His
ENST00000677715.1:c.368T>A	ENSP00000502950.1:p.Leu123His
ENST00000677753.1:n.41T>A
ENST00000677961.1:n.71T>A
ENST00000678015.1:c.368T>A	ENSP00000502959.1:p.Leu123His
ENST00000678190.1:c.41T>A	ENSP00000503824.1:p.Leu14His
ENST00000678282.1:n.41T>A
ENST00000678297.1:c.368T>A	ENSP00000503472.1:p.Leu123His
ENST00000299697.11:c.659T>A	ENSP00000299697.8:p.Leu220His
ENST00000417693.7:c.731T>A	ENSP00000407469.4:p.Leu244His
ENST00000451102.6:c.785T>A	ENSP00000414334.3:p.Leu262His
ENST00000525974.5:c.368T>A	ENSP00000434594.1:p.Leu123His
ENST00000527284.5:c.566T>A	ENSP00000435312.1:p.Leu189His
ENST00000527800.5:c.368T>A	ENSP00000433770.1:p.Leu123His
ENST00000544898.5:c.659T>A	ENSP00000440898.2:p.Leu220His
ENST00000545043.6:c.584T>A	ENSP00000438143.2:p.Leu195His
ENST00000561527.5:n.218T>A
ENST00000561728.1:c.108T>A
ENST00000561905.2:c.13T>A
ENST00000562552.5:n.475T>A
ENST00000563099.5:n.186T>A
ENST00000563369.6:c.368T>A	ENSP00000463560.1:p.Leu123His
ENST00000563478.5:c.368T>A	ENSP00000462341.1:p.Leu123His
ENST00000564792.1:n.314T>A
ENST00000564917.5:c.710T>A	ENSP00000455187.1:p.Leu237His
ENST00000567357.5:c.*517T>A	ENSP00000457959.1:n.*517T>A
ENST00000569718.5:c.384T>A
ENST00000620035.4:c.605T>A	ENSP00000483833.1:p.Leu202His
NM_001172643.1:c.566T>A	NP_001166114.1:p.Leu189His
NM_001172644.1:c.584T>A	NP_001166115.1:p.Leu195His
NM_001172645.1:c.605T>A	NP_001166116.1:p.Leu202His
NM_001271934.1:c.512T>A	NP_001258863.1:p.Leu171His
NM_001271935.1:c.397T>A	NP_001258864.1:p.Ser133Thr
NM_001272050.1:c.368T>A	NP_001258979.1:p.Leu123His
NM_004614.4:c.659T>A	NP_004605.4:p.Leu220His
NR_073520.1:n.1938T>A
NM_001172644.2:c.584T>A	NP_001166115.1:p.Leu195His
NM_001271934.2:c.512T>A	NP_001258863.1:p.Leu171His
NM_001272050.2:c.368T>A	NP_001258979.1:p.Leu123His
NM_004614.5:c.659T>A MANE Select	NP_004605.4:p.Leu220His
NR_073520.2:n.1648T>A
NM_001172645.2:c.605T>A	NP_001166116.1:p.Leu202His