Canonical Allele Identifier: CA2228908195
Community Standard Title: NM_004614.5(TK2):c.760C= (p.Arg254=)
Gene: TK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66512006G= , CM000678.2:g.66512006G= GRCh38
NC_000016.9:g.66545909G= , CM000678.1:g.66545909G= GRCh37
NC_000016.8:g.65103410G= NCBI36
NG_016862.1:g.43407C=

Transcript Alleles

HGVS Amino-acid Change
NM_004614.5:c.760C= MANE Select NP_004605.4:p.Arg254=
ENST00000544898.6:c.760C= MANE Select ENSP00000440898.2:p.Arg254=
NM_001172643.1:c.667C= NP_001166114.1:p.Arg223=
NM_001172644.1:c.685C= NP_001166115.1:p.Arg229=
NM_001172644.2:c.685C= NP_001166115.1:p.Arg229=
NM_001172645.1:c.706C= NP_001166116.1:p.Arg236=
NM_001172645.2:c.706C= NP_001166116.1:p.Arg236=
NM_001271934.1:c.613C= NP_001258863.1:p.Arg205=
NM_001271934.2:c.613C= NP_001258863.1:p.Arg205=
NM_001271935.1:c.*57C= NP_001258864.1:n.*57C=
NM_001272050.1:c.469C= NP_001258979.1:p.Arg157=
NM_001272050.2:c.469C= NP_001258979.1:p.Arg157=
NM_004614.4:c.760C= NP_004605.4:p.Arg254=
NR_073520.1:n.2039C=
NR_073520.2:n.1749C=
ENST00000299697.11:c.760C= ENSP00000299697.8:p.Arg254=
ENST00000299697.12:c.592C= ENSP00000299697.9:p.Arg198=
ENST00000417693.7:c.832C= ENSP00000407469.4:p.Arg278=
ENST00000417693.8:c.706C= ENSP00000407469.5:p.Arg236=
ENST00000451102.6:c.886C= ENSP00000414334.3:p.Arg296=
ENST00000451102.7:c.667C= ENSP00000414334.4:p.Arg223=
ENST00000525974.5:c.469C= ENSP00000434594.1:p.Arg157=
ENST00000527284.5:c.667C= ENSP00000435312.1:p.Arg223=
ENST00000527284.6:c.623C=
ENST00000527800.5:c.469C= ENSP00000433770.1:p.Arg157=
ENST00000527800.6:c.469C= ENSP00000433770.1:p.Arg157=
ENST00000544898.5:c.760C= ENSP00000440898.2:p.Arg254=
ENST00000545043.6:c.685C= ENSP00000438143.2:p.Arg229=
ENST00000561527.5:n.258+1725C=
ENST00000561728.1:c.148+1725C=
ENST00000561905.2:c.53+1725C=
ENST00000562552.5:n.576C=
ENST00000563099.5:n.287C=
ENST00000563369.6:c.469C= ENSP00000463560.1:p.Arg157=
ENST00000564792.1:n.415C=
ENST00000564917.5:c.811C= ENSP00000455187.1:p.Arg271=
ENST00000567357.5:c.*618C= ENSP00000457959.1:n.*618C=
ENST00000567357.6:c.*618C= ENSP00000457959.2:n.*618C=
ENST00000569718.5:c.485C=
ENST00000569718.6:c.*57C= ENSP00000464313.2:n.*57C=
ENST00000620035.4:c.706C= ENSP00000483833.1:p.Arg236=
ENST00000620035.5:c.*57C= ENSP00000483833.2:n.*57C=
ENST00000677166.1:n.61C=
ENST00000677319.1:c.61C= ENSP00000503900.1:p.Arg21=
ENST00000677420.1:c.469C= ENSP00000504648.1:p.Arg157=
ENST00000677535.1:c.61C= ENSP00000502856.1:p.Arg21=
ENST00000677555.1:c.469C= ENSP00000503331.1:p.Arg157=
ENST00000677715.1:c.469C= ENSP00000502950.1:p.Arg157=
ENST00000677753.1:n.81+1725C=
ENST00000678015.1:c.469C= ENSP00000502959.1:p.Arg157=
ENST00000678099.1:c.61C= ENSP00000504701.1:p.Arg21=
ENST00000678190.1:c.208C= ENSP00000503824.1:p.Arg70=
ENST00000678219.1:c.61C= ENSP00000504142.1:p.Arg21=
ENST00000678282.1:n.81+1725C=
ENST00000678297.1:c.469C= ENSP00000503472.1:p.Arg157=
ENST00000678861.1:c.61C= ENSP00000502932.1:p.Arg21=