Canonical Allele Identifier: CA495902973
Gene: TK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.66547673G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66513770G>C , CM000678.2:g.66513770G>C GRCh38
NC_000016.9:g.66547673G>C , CM000678.1:g.66547673G>C GRCh37
NC_000016.8:g.65105174G>C NCBI36
NG_016862.1:g.41643C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299697.12:c.492C>G ENSP00000299697.9:p.Leu164=
ENST00000417693.8:c.606C>G ENSP00000407469.5:p.Leu202=
ENST00000451102.7:c.567C>G ENSP00000414334.4:p.Leu189=
ENST00000527284.6:c.563-1704C>G
ENST00000527800.6:c.369C>G ENSP00000433770.1:p.Leu123=
ENST00000544898.6:c.660C>G MANE Select ENSP00000440898.2:p.Leu220=
ENST00000567357.6:c.*518C>G ENSP00000457959.2:n.*518C>G
ENST00000569718.6:c.398C>G ENSP00000464313.2:p.Ser133Ter
ENST00000620035.5:c.416C>G ENSP00000483833.2:p.Ser139Ter
ENST00000676538.1:c.243C>G
ENST00000676904.1:c.131C>G
ENST00000677296.1:n.42C>G
ENST00000677379.1:c.301C>G ENSP00000503672.1:n.301C>G
ENST00000677420.1:c.369C>G ENSP00000504648.1:p.Leu123=
ENST00000677555.1:c.369C>G ENSP00000503331.1:p.Leu123=
ENST00000677715.1:c.369C>G ENSP00000502950.1:p.Leu123=
ENST00000677753.1:n.42C>G
ENST00000677961.1:n.72C>G
ENST00000678015.1:c.369C>G ENSP00000502959.1:p.Leu123=
ENST00000678190.1:c.42C>G ENSP00000503824.1:p.Leu14=
ENST00000678282.1:n.42C>G
ENST00000678297.1:c.369C>G ENSP00000503472.1:p.Leu123=
ENST00000299697.11:c.660C>G ENSP00000299697.8:p.Leu220=
ENST00000417693.7:c.732C>G ENSP00000407469.4:p.Leu244=
ENST00000451102.6:c.786C>G ENSP00000414334.3:p.Leu262=
ENST00000525974.5:c.369C>G ENSP00000434594.1:p.Leu123=
ENST00000527284.5:c.567C>G ENSP00000435312.1:p.Leu189=
ENST00000527800.5:c.369C>G ENSP00000433770.1:p.Leu123=
ENST00000544898.5:c.660C>G ENSP00000440898.2:p.Leu220=
ENST00000545043.6:c.585C>G ENSP00000438143.2:p.Leu195=
ENST00000561527.5:n.219C>G
ENST00000561728.1:c.109C>G
ENST00000561905.2:c.14C>G
ENST00000562552.5:n.476C>G
ENST00000563099.5:n.187C>G
ENST00000563369.6:c.369C>G ENSP00000463560.1:p.Leu123=
ENST00000563478.5:c.369C>G ENSP00000462341.1:p.Leu123=
ENST00000564792.1:n.315C>G
ENST00000564917.5:c.711C>G ENSP00000455187.1:p.Leu237=
ENST00000567357.5:c.*518C>G ENSP00000457959.1:n.*518C>G
ENST00000569718.5:c.385C>G
ENST00000620035.4:c.606C>G ENSP00000483833.1:p.Leu202=
NM_001172643.1:c.567C>G NP_001166114.1:p.Leu189=
NM_001172644.1:c.585C>G NP_001166115.1:p.Leu195=
NM_001172645.1:c.606C>G NP_001166116.1:p.Leu202=
NM_001271934.1:c.513C>G NP_001258863.1:p.Leu171=
NM_001271935.1:c.398C>G NP_001258864.1:p.Ser133Ter
NM_001272050.1:c.369C>G NP_001258979.1:p.Leu123=
NM_004614.4:c.660C>G NP_004605.4:p.Leu220=
NR_073520.1:n.1939C>G
NM_001172644.2:c.585C>G NP_001166115.1:p.Leu195=
NM_001271934.2:c.513C>G NP_001258863.1:p.Leu171=
NM_001272050.2:c.369C>G NP_001258979.1:p.Leu123=
NM_004614.5:c.660C>G MANE Select NP_004605.4:p.Leu220=
NR_073520.2:n.1649C>G
NM_001172645.2:c.606C>G NP_001166116.1:p.Leu202=