Canonical Allele Identifier: CA2228915546
Community Standard Title: NM_004614.5(TK2):c.268C= (p.Arg90=)
Gene: TK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66536981G= , CM000678.2:g.66536981G= GRCh38
NC_000016.9:g.66570884G= , CM000678.1:g.66570884G= GRCh37
NC_000016.8:g.65128385G= NCBI36
NG_016862.1:g.18432C=

Transcript Alleles

HGVS Amino-acid Change
NM_004614.5:c.268C= MANE Select NP_004605.4:p.Arg90=
ENST00000544898.6:c.268C= MANE Select ENSP00000440898.2:p.Arg90=
NM_001172643.1:c.175C= NP_001166114.1:p.Arg59=
NM_001172644.1:c.193C= NP_001166115.1:p.Arg65=
NM_001172644.2:c.193C= NP_001166115.1:p.Arg65=
NM_001172645.1:c.231+4898C= NP_001166116.1:n.231+4898C=
NM_001172645.2:c.231+4898C= NP_001166116.1:n.231+4898C=
NM_001271934.1:c.121C= NP_001258863.1:p.Arg41=
NM_001271934.2:c.121C= NP_001258863.1:p.Arg41=
NM_001271935.1:c.175C= NP_001258864.1:p.Arg59=
NM_001272050.1:c.-24C= NP_001258979.1:n.-24C=
NM_001272050.2:c.-24C= NP_001258979.1:n.-24C=
NM_004614.4:c.268C= NP_004605.4:p.Arg90=
NR_073520.1:n.1547C=
NR_073520.2:n.1257C=
ENST00000299697.11:c.268C= ENSP00000299697.8:p.Arg90=
ENST00000299697.12:c.100C= ENSP00000299697.9:p.Arg34=
ENST00000417693.7:c.357+4898C= ENSP00000407469.4:n.357+4898C=
ENST00000417693.8:c.231+4898C= ENSP00000407469.5:n.231+4898C=
ENST00000451102.6:c.394C= ENSP00000414334.3:p.Arg132=
ENST00000451102.7:c.175C= ENSP00000414334.4:p.Arg59=
ENST00000525974.5:c.-24C= ENSP00000434594.1:n.-24C=
ENST00000527284.5:c.175C= ENSP00000435312.1:p.Arg59=
ENST00000527284.6:c.212C=
ENST00000527800.5:c.-24C= ENSP00000433770.1:n.-24C=
ENST00000527800.6:c.-24C= ENSP00000433770.1:n.-24C=
ENST00000544898.5:c.268C= ENSP00000440898.2:p.Arg90=
ENST00000545043.6:c.193C= ENSP00000438143.2:p.Arg65=
ENST00000562484.2:c.-24C= ENSP00000463326.1:n.-24C=
ENST00000563369.6:c.-24C= ENSP00000463560.1:n.-24C=
ENST00000563478.5:c.-24C= ENSP00000462341.1:n.-24C=
ENST00000564917.5:c.268C= ENSP00000455187.1:p.Arg90=
ENST00000567357.5:c.*126C= ENSP00000457959.1:n.*126C=
ENST00000567357.6:c.*126C= ENSP00000457959.2:n.*126C=
ENST00000569718.5:c.162C=
ENST00000569718.6:c.175C= ENSP00000464313.2:p.Arg59=
ENST00000620035.4:c.231+4898C= ENSP00000483833.1:n.231+4898C=
ENST00000620035.5:c.193C= ENSP00000483833.2:p.Arg65=
ENST00000676536.1:c.224C=
ENST00000676538.1:c.32+11997C=
ENST00000677420.1:c.-7+4898C= ENSP00000504648.1:n.-7+4898C=
ENST00000677497.1:n.37C=
ENST00000677541.1:c.261C=
ENST00000677555.1:c.-24C= ENSP00000503331.1:n.-24C=
ENST00000677715.1:c.-24C= ENSP00000502950.1:n.-24C=
ENST00000677739.1:c.37C= ENSP00000504644.1:p.Arg13=
ENST00000678015.1:c.-24C= ENSP00000502959.1:n.-24C=
ENST00000678297.1:c.-24C= ENSP00000503472.1:n.-24C=
ENST00000678314.1:c.-24C= ENSP00000504438.1:n.-24C=
ENST00000678746.1:c.37C= ENSP00000503227.1:p.Arg13=
ENST00000678864.1:n.132C=
ENST00000679154.1:c.33-5512C=