Canonical Allele Identifier: CA2228900617
Community Standard Title: NM_004614.5(TK2):c.575G= (p.Arg192=)
Gene: TK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66517179C= , CM000678.2:g.66517179C= GRCh38
NC_000016.9:g.66551082C= , CM000678.1:g.66551082C= GRCh37
NC_000016.8:g.65108583C= NCBI36
NG_016862.1:g.38234G=

Transcript Alleles

HGVS Amino-acid Change
NM_004614.5:c.575G= MANE Select NP_004605.4:p.Arg192=
ENST00000544898.6:c.575G= MANE Select ENSP00000440898.2:p.Arg192=
NM_001172643.1:c.482G= NP_001166114.1:p.Arg161=
NM_001172644.1:c.500G= NP_001166115.1:p.Arg167=
NM_001172644.2:c.500G= NP_001166115.1:p.Arg167=
NM_001172645.1:c.521G= NP_001166116.1:p.Arg174=
NM_001172645.2:c.521G= NP_001166116.1:p.Arg174=
NM_001271934.1:c.428G= NP_001258863.1:p.Arg143=
NM_001271934.2:c.428G= NP_001258863.1:p.Arg143=
NM_001271935.1:c.357-3368G= NP_001258864.1:n.357-3368G=
NM_001272050.1:c.284G= NP_001258979.1:p.Arg95=
NM_001272050.2:c.284G= NP_001258979.1:p.Arg95=
NM_004614.4:c.575G= NP_004605.4:p.Arg192=
NR_073520.1:n.1854G=
NR_073520.2:n.1564G=
ENST00000299697.11:c.575G= ENSP00000299697.8:p.Arg192=
ENST00000299697.12:c.407G= ENSP00000299697.9:p.Arg136=
ENST00000417693.7:c.647G= ENSP00000407469.4:p.Arg216=
ENST00000417693.8:c.521G= ENSP00000407469.5:p.Arg174=
ENST00000451102.6:c.701G= ENSP00000414334.3:p.Arg234=
ENST00000451102.7:c.482G= ENSP00000414334.4:p.Arg161=
ENST00000525974.5:c.284G= ENSP00000434594.1:p.Arg95=
ENST00000527284.5:c.482G= ENSP00000435312.1:p.Arg161=
ENST00000527284.6:c.519G=
ENST00000527800.5:c.284G= ENSP00000433770.1:p.Arg95=
ENST00000527800.6:c.284G= ENSP00000433770.1:p.Arg95=
ENST00000544898.5:c.575G= ENSP00000440898.2:p.Arg192=
ENST00000545043.6:c.500G= ENSP00000438143.2:p.Arg167=
ENST00000561527.5:n.134G=
ENST00000561728.1:c.24G=
ENST00000562552.5:n.391G=
ENST00000563099.5:n.102G=
ENST00000563369.6:c.284G= ENSP00000463560.1:p.Arg95=
ENST00000563478.5:c.284G= ENSP00000462341.1:p.Arg95=
ENST00000564792.1:n.230G=
ENST00000564917.5:c.575G= ENSP00000455187.1:p.Arg192=
ENST00000567357.5:c.*433G= ENSP00000457959.1:n.*433G=
ENST00000567357.6:c.*433G= ENSP00000457959.2:n.*433G=
ENST00000569718.5:c.344-3368G=
ENST00000569718.6:c.357-3368G= ENSP00000464313.2:n.357-3368G=
ENST00000620035.4:c.521G= ENSP00000483833.1:p.Arg174=
ENST00000620035.5:c.375-3368G= ENSP00000483833.2:n.375-3368G=
ENST00000676538.1:c.158G=
ENST00000676904.1:c.89+610G=
ENST00000677379.1:c.216G= ENSP00000503672.1:n.216G=
ENST00000677420.1:c.284G= ENSP00000504648.1:p.Arg95=
ENST00000677555.1:c.284G= ENSP00000503331.1:p.Arg95=
ENST00000677715.1:c.284G= ENSP00000502950.1:p.Arg95=
ENST00000678015.1:c.284G= ENSP00000502959.1:p.Arg95=
ENST00000678297.1:c.284G= ENSP00000503472.1:p.Arg95=
ENST00000678314.1:c.284G= ENSP00000504438.1:p.Arg95=