Canonical Allele Identifier: CA396187114

Gene: TK2

Linked Data

• MyVariant Identifiers: chr16:g.66547660G>C (hg19) ; chr16:g.66513757G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513757G>C , CM000678.2:g.66513757G>C	GRCh38
NC_000016.9:g.66547660G>C , CM000678.1:g.66547660G>C	GRCh37
NC_000016.8:g.65105161G>C	NCBI36
NG_016862.1:g.41656C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.505C>G	ENSP00000299697.9:p.Leu169Val
ENST00000417693.8:c.619C>G	ENSP00000407469.5:p.Leu207Val
ENST00000451102.7:c.580C>G	ENSP00000414334.4:p.Leu194Val
ENST00000527284.6:c.563-1691C>G
ENST00000527800.6:c.382C>G	ENSP00000433770.1:p.Leu128Val
ENST00000544898.6:c.673C>G MANE Select	ENSP00000440898.2:p.Leu225Val
ENST00000567357.6:c.*531C>G	ENSP00000457959.2:n.*531C>G
ENST00000569718.6:c.411C>G	ENSP00000464313.2:p.Ala137=
ENST00000620035.5:c.429C>G	ENSP00000483833.2:p.Ala143=
ENST00000676538.1:c.256C>G
ENST00000676904.1:c.144C>G
ENST00000677296.1:n.55C>G
ENST00000677379.1:c.314C>G	ENSP00000503672.1:n.314C>G
ENST00000677420.1:c.382C>G	ENSP00000504648.1:p.Leu128Val
ENST00000677555.1:c.382C>G	ENSP00000503331.1:p.Leu128Val
ENST00000677715.1:c.382C>G	ENSP00000502950.1:p.Leu128Val
ENST00000677753.1:n.55C>G
ENST00000677961.1:n.85C>G
ENST00000678015.1:c.382C>G	ENSP00000502959.1:p.Leu128Val
ENST00000678190.1:c.55C>G	ENSP00000503824.1:p.Leu19Val
ENST00000678282.1:n.55C>G
ENST00000678297.1:c.382C>G	ENSP00000503472.1:p.Leu128Val
ENST00000299697.11:c.673C>G	ENSP00000299697.8:p.Leu225Val
ENST00000417693.7:c.745C>G	ENSP00000407469.4:p.Leu249Val
ENST00000451102.6:c.799C>G	ENSP00000414334.3:p.Leu267Val
ENST00000525974.5:c.382C>G	ENSP00000434594.1:p.Leu128Val
ENST00000527284.5:c.580C>G	ENSP00000435312.1:p.Leu194Val
ENST00000527800.5:c.382C>G	ENSP00000433770.1:p.Leu128Val
ENST00000544898.5:c.673C>G	ENSP00000440898.2:p.Leu225Val
ENST00000545043.6:c.598C>G	ENSP00000438143.2:p.Leu200Val
ENST00000561527.5:n.232C>G
ENST00000561728.1:c.122C>G
ENST00000561905.2:c.27C>G
ENST00000562552.5:n.489C>G
ENST00000563099.5:n.200C>G
ENST00000563369.6:c.382C>G	ENSP00000463560.1:p.Leu128Val
ENST00000563478.5:c.382C>G	ENSP00000462341.1:p.Leu128Val
ENST00000564792.1:n.328C>G
ENST00000564917.5:c.724C>G	ENSP00000455187.1:p.Leu242Val
ENST00000567357.5:c.*531C>G	ENSP00000457959.1:n.*531C>G
ENST00000569718.5:c.398C>G
ENST00000620035.4:c.619C>G	ENSP00000483833.1:p.Leu207Val
NM_001172643.1:c.580C>G	NP_001166114.1:p.Leu194Val
NM_001172644.1:c.598C>G	NP_001166115.1:p.Leu200Val
NM_001172645.1:c.619C>G	NP_001166116.1:p.Leu207Val
NM_001271934.1:c.526C>G	NP_001258863.1:p.Leu176Val
NM_001271935.1:c.411C>G	NP_001258864.1:p.Ala137=
NM_001272050.1:c.382C>G	NP_001258979.1:p.Leu128Val
NM_004614.4:c.673C>G	NP_004605.4:p.Leu225Val
NR_073520.1:n.1952C>G
NM_001172644.2:c.598C>G	NP_001166115.1:p.Leu200Val
NM_001271934.2:c.526C>G	NP_001258863.1:p.Leu176Val
NM_001272050.2:c.382C>G	NP_001258979.1:p.Leu128Val
NM_004614.5:c.673C>G MANE Select	NP_004605.4:p.Leu225Val
NR_073520.2:n.1662C>G
NM_001172645.2:c.619C>G	NP_001166116.1:p.Leu207Val