Canonical Allele Identifier: CA396187272

Gene: TK2

Linked Data

• ClinVar Variation Id: 1376039
• ClinVar RCV Id: RCV001902583
• dbSNP Id: rs1316000835
• MyVariant Identifiers: chr16:g.66547692T>C (hg19) ; chr16:g.66513789T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513789T>C , CM000678.2:g.66513789T>C	GRCh38
NC_000016.9:g.66547692T>C , CM000678.1:g.66547692T>C	GRCh37
NC_000016.8:g.65105193T>C	NCBI36
NG_016862.1:g.41624A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.473A>G	ENSP00000299697.9:p.His158Arg
ENST00000417693.8:c.587A>G	ENSP00000407469.5:p.His196Arg
ENST00000451102.7:c.548A>G	ENSP00000414334.4:p.His183Arg
ENST00000527284.6:c.563-1723A>G
ENST00000527800.6:c.350A>G	ENSP00000433770.1:p.His117Arg
ENST00000544898.6:c.641A>G MANE Select	ENSP00000440898.2:p.His214Arg
ENST00000567357.6:c.*499A>G	ENSP00000457959.2:n.*499A>G
ENST00000569718.6:c.379A>G	ENSP00000464313.2:p.Ile127Val
ENST00000620035.5:c.397A>G	ENSP00000483833.2:p.Ile133Val
ENST00000676538.1:c.224A>G
ENST00000676904.1:c.112A>G
ENST00000677296.1:n.23A>G
ENST00000677379.1:c.282A>G	ENSP00000503672.1:n.282A>G
ENST00000677420.1:c.350A>G	ENSP00000504648.1:p.His117Arg
ENST00000677555.1:c.350A>G	ENSP00000503331.1:p.His117Arg
ENST00000677715.1:c.350A>G	ENSP00000502950.1:p.His117Arg
ENST00000677753.1:n.23A>G
ENST00000677961.1:n.53A>G
ENST00000678015.1:c.350A>G	ENSP00000502959.1:p.His117Arg
ENST00000678190.1:c.23A>G	ENSP00000503824.1:p.His8Arg
ENST00000678282.1:n.23A>G
ENST00000678297.1:c.350A>G	ENSP00000503472.1:p.His117Arg
ENST00000299697.11:c.641A>G	ENSP00000299697.8:p.His214Arg
ENST00000417693.7:c.713A>G	ENSP00000407469.4:p.His238Arg
ENST00000451102.6:c.767A>G	ENSP00000414334.3:p.His256Arg
ENST00000525974.5:c.350A>G	ENSP00000434594.1:p.His117Arg
ENST00000527284.5:c.548A>G	ENSP00000435312.1:p.His183Arg
ENST00000527800.5:c.350A>G	ENSP00000433770.1:p.His117Arg
ENST00000544898.5:c.641A>G	ENSP00000440898.2:p.His214Arg
ENST00000545043.6:c.566A>G	ENSP00000438143.2:p.His189Arg
ENST00000561527.5:n.200A>G
ENST00000561728.1:c.90A>G
ENST00000562552.5:n.457A>G
ENST00000563099.5:n.168A>G
ENST00000563369.6:c.350A>G	ENSP00000463560.1:p.His117Arg
ENST00000563478.5:c.350A>G	ENSP00000462341.1:p.His117Arg
ENST00000564792.1:n.296A>G
ENST00000564917.5:c.692A>G	ENSP00000455187.1:p.His231Arg
ENST00000567357.5:c.*499A>G	ENSP00000457959.1:n.*499A>G
ENST00000569718.5:c.366A>G
ENST00000620035.4:c.587A>G	ENSP00000483833.1:p.His196Arg
NM_001172643.1:c.548A>G	NP_001166114.1:p.His183Arg
NM_001172644.1:c.566A>G	NP_001166115.1:p.His189Arg
NM_001172645.1:c.587A>G	NP_001166116.1:p.His196Arg
NM_001271934.1:c.494A>G	NP_001258863.1:p.His165Arg
NM_001271935.1:c.379A>G	NP_001258864.1:p.Ile127Val
NM_001272050.1:c.350A>G	NP_001258979.1:p.His117Arg
NM_004614.4:c.641A>G	NP_004605.4:p.His214Arg
NR_073520.1:n.1920A>G
NM_001172644.2:c.566A>G	NP_001166115.1:p.His189Arg
NM_001271934.2:c.494A>G	NP_001258863.1:p.His165Arg
NM_001272050.2:c.350A>G	NP_001258979.1:p.His117Arg
NM_004614.5:c.641A>G MANE Select	NP_004605.4:p.His214Arg
NR_073520.2:n.1630A>G
NM_001172645.2:c.587A>G	NP_001166116.1:p.His196Arg