Canonical Allele Identifier: CA495902954
Gene: TK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.66547658A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66513755A>G , CM000678.2:g.66513755A>G GRCh38
NC_000016.9:g.66547658A>G , CM000678.1:g.66547658A>G GRCh37
NC_000016.8:g.65105159A>G NCBI36
NG_016862.1:g.41658T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299697.12:c.507T>C ENSP00000299697.9:p.Leu169=
ENST00000417693.8:c.621T>C ENSP00000407469.5:p.Leu207=
ENST00000451102.7:c.582T>C ENSP00000414334.4:p.Leu194=
ENST00000527284.6:c.563-1689T>C
ENST00000527800.6:c.384T>C ENSP00000433770.1:p.Leu128=
ENST00000544898.6:c.675T>C MANE Select ENSP00000440898.2:p.Leu225=
ENST00000567357.6:c.*533T>C ENSP00000457959.2:n.*533T>C
ENST00000569718.6:c.413T>C ENSP00000464313.2:p.Phe138Ser
ENST00000620035.5:c.431T>C ENSP00000483833.2:p.Phe144Ser
ENST00000676538.1:c.258T>C
ENST00000676904.1:c.146T>C
ENST00000677296.1:n.57T>C
ENST00000677379.1:c.316T>C ENSP00000503672.1:n.316T>C
ENST00000677420.1:c.384T>C ENSP00000504648.1:p.Leu128=
ENST00000677555.1:c.384T>C ENSP00000503331.1:p.Leu128=
ENST00000677715.1:c.384T>C ENSP00000502950.1:p.Leu128=
ENST00000677753.1:n.57T>C
ENST00000677961.1:n.87T>C
ENST00000678015.1:c.384T>C ENSP00000502959.1:p.Leu128=
ENST00000678190.1:c.57T>C ENSP00000503824.1:p.Leu19=
ENST00000678282.1:n.57T>C
ENST00000678297.1:c.384T>C ENSP00000503472.1:p.Leu128=
ENST00000299697.11:c.675T>C ENSP00000299697.8:p.Leu225=
ENST00000417693.7:c.747T>C ENSP00000407469.4:p.Leu249=
ENST00000451102.6:c.801T>C ENSP00000414334.3:p.Leu267=
ENST00000525974.5:c.384T>C ENSP00000434594.1:p.Leu128=
ENST00000527284.5:c.582T>C ENSP00000435312.1:p.Leu194=
ENST00000527800.5:c.384T>C ENSP00000433770.1:p.Leu128=
ENST00000544898.5:c.675T>C ENSP00000440898.2:p.Leu225=
ENST00000545043.6:c.600T>C ENSP00000438143.2:p.Leu200=
ENST00000561527.5:n.234T>C
ENST00000561728.1:c.124T>C
ENST00000561905.2:c.29T>C
ENST00000562552.5:n.491T>C
ENST00000563099.5:n.202T>C
ENST00000563369.6:c.384T>C ENSP00000463560.1:p.Leu128=
ENST00000563478.5:c.384T>C ENSP00000462341.1:p.Leu128=
ENST00000564792.1:n.330T>C
ENST00000564917.5:c.726T>C ENSP00000455187.1:p.Leu242=
ENST00000567357.5:c.*533T>C ENSP00000457959.1:n.*533T>C
ENST00000569718.5:c.400T>C
ENST00000620035.4:c.621T>C ENSP00000483833.1:p.Leu207=
NM_001172643.1:c.582T>C NP_001166114.1:p.Leu194=
NM_001172644.1:c.600T>C NP_001166115.1:p.Leu200=
NM_001172645.1:c.621T>C NP_001166116.1:p.Leu207=
NM_001271934.1:c.528T>C NP_001258863.1:p.Leu176=
NM_001271935.1:c.413T>C NP_001258864.1:p.Phe138Ser
NM_001272050.1:c.384T>C NP_001258979.1:p.Leu128=
NM_004614.4:c.675T>C NP_004605.4:p.Leu225=
NR_073520.1:n.1954T>C
NM_001172644.2:c.600T>C NP_001166115.1:p.Leu200=
NM_001271934.2:c.528T>C NP_001258863.1:p.Leu176=
NM_001272050.2:c.384T>C NP_001258979.1:p.Leu128=
NM_004614.5:c.675T>C MANE Select NP_004605.4:p.Leu225=
NR_073520.2:n.1664T>C
NM_001172645.2:c.621T>C NP_001166116.1:p.Leu207=