Canonical Allele Identifier: CA396190625
Community Standard Title: NM_004614.5(TK2):c.323C>G (p.Thr108Arg)
Gene: TK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66531432G>C , CM000678.2:g.66531432G>C GRCh38
NC_000016.9:g.66565335G>C , CM000678.1:g.66565335G>C GRCh37
NC_000016.8:g.65122836G>C NCBI36
NG_016862.1:g.23981C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004614.5:c.323C>G MANE Select NP_004605.4:p.Thr108Arg
ENST00000544898.6:c.323C>G MANE Select ENSP00000440898.2:p.Thr108Arg
NM_001172643.1:c.230C>G NP_001166114.1:p.Thr77Arg
NM_001172644.1:c.248C>G NP_001166115.1:p.Thr83Arg
NM_001172644.2:c.248C>G NP_001166115.1:p.Thr83Arg
NM_001172645.1:c.269C>G NP_001166116.1:p.Thr90Arg
NM_001172645.2:c.269C>G NP_001166116.1:p.Thr90Arg
NM_001271934.1:c.176C>G NP_001258863.1:p.Thr59Arg
NM_001271934.2:c.176C>G NP_001258863.1:p.Thr59Arg
NM_001271935.1:c.230C>G NP_001258864.1:p.Thr77Arg
NM_001272050.1:c.32C>G NP_001258979.1:p.Thr11Arg
NM_001272050.2:c.32C>G NP_001258979.1:p.Thr11Arg
NM_004614.4:c.323C>G NP_004605.4:p.Thr108Arg
NR_073520.1:n.1602C>G
NR_073520.2:n.1312C>G
ENST00000299697.11:c.323C>G ENSP00000299697.8:p.Thr108Arg
ENST00000299697.12:c.155C>G ENSP00000299697.9:p.Thr52Arg
ENST00000417693.7:c.395C>G ENSP00000407469.4:p.Thr132Arg
ENST00000417693.8:c.269C>G ENSP00000407469.5:p.Thr90Arg
ENST00000451102.6:c.449C>G ENSP00000414334.3:p.Thr150Arg
ENST00000451102.7:c.230C>G ENSP00000414334.4:p.Thr77Arg
ENST00000525974.5:c.32C>G ENSP00000434594.1:p.Thr11Arg
ENST00000527284.5:c.230C>G ENSP00000435312.1:p.Thr77Arg
ENST00000527284.6:c.267C>G
ENST00000527800.5:c.32C>G ENSP00000433770.1:p.Thr11Arg
ENST00000527800.6:c.32C>G ENSP00000433770.1:p.Thr11Arg
ENST00000544898.5:c.323C>G ENSP00000440898.2:p.Thr108Arg
ENST00000545043.6:c.248C>G ENSP00000438143.2:p.Thr83Arg
ENST00000562484.2:c.32C>G ENSP00000463326.1:p.Thr11Arg
ENST00000563369.6:c.32C>G ENSP00000463560.1:p.Thr11Arg
ENST00000563478.5:c.32C>G ENSP00000462341.1:p.Thr11Arg
ENST00000564917.5:c.323C>G ENSP00000455187.1:p.Thr108Arg
ENST00000567357.5:c.*181C>G ENSP00000457959.1:n.*181C>G
ENST00000567357.6:c.*181C>G ENSP00000457959.2:n.*181C>G
ENST00000569718.5:c.217C>G
ENST00000569718.6:c.230C>G ENSP00000464313.2:p.Thr77Arg
ENST00000620035.4:c.269C>G ENSP00000483833.1:p.Thr90Arg
ENST00000620035.5:c.248C>G ENSP00000483833.2:p.Thr83Arg
ENST00000676538.1:c.33-13555C>G
ENST00000677379.1:c.38C>G ENSP00000503672.1:p.Thr13Arg
ENST00000677420.1:c.32C>G ENSP00000504648.1:p.Thr11Arg
ENST00000677497.1:n.210C>G
ENST00000677555.1:c.32C>G ENSP00000503331.1:p.Thr11Arg
ENST00000677715.1:c.32C>G ENSP00000502950.1:p.Thr11Arg
ENST00000677739.1:c.55-2365C>G ENSP00000504644.1:n.55-2365C>G
ENST00000678015.1:c.32C>G ENSP00000502959.1:p.Thr11Arg
ENST00000678297.1:c.32C>G ENSP00000503472.1:p.Thr11Arg
ENST00000678314.1:c.32C>G ENSP00000504438.1:p.Thr11Arg
ENST00000678746.1:c.213C>G ENSP00000503227.1:n.213C>G
ENST00000679154.1:c.70C>G