Canonical Allele Identifier: CA8093704
Community Standard Title: NM_004614.5(TK2):c.367C>G (p.Arg123Gly)
Gene: TK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66531388G>C , CM000678.2:g.66531388G>C GRCh38
NC_000016.9:g.66565291G>C , CM000678.1:g.66565291G>C GRCh37
NC_000016.8:g.65122792G>C NCBI36
NG_016862.1:g.24025C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004614.5:c.367C>G MANE Select NP_004605.4:p.Arg123Gly
ENST00000544898.6:c.367C>G MANE Select ENSP00000440898.2:p.Arg123Gly
NM_001172643.1:c.274C>G NP_001166114.1:p.Arg92Gly
NM_001172644.1:c.292C>G NP_001166115.1:p.Arg98Gly
NM_001172644.2:c.292C>G NP_001166115.1:p.Arg98Gly
NM_001172645.1:c.313C>G NP_001166116.1:p.Arg105Gly
NM_001172645.2:c.313C>G NP_001166116.1:p.Arg105Gly
NM_001271934.1:c.220C>G NP_001258863.1:p.Arg74Gly
NM_001271934.2:c.220C>G NP_001258863.1:p.Arg74Gly
NM_001271935.1:c.274C>G NP_001258864.1:p.Arg92Gly
NM_001272050.1:c.76C>G NP_001258979.1:p.Arg26Gly
NM_001272050.2:c.76C>G NP_001258979.1:p.Arg26Gly
NM_004614.4:c.367C>G NP_004605.4:p.Arg123Gly
NR_073520.1:n.1646C>G
NR_073520.2:n.1356C>G
ENST00000299697.11:c.367C>G ENSP00000299697.8:p.Arg123Gly
ENST00000299697.12:c.199C>G ENSP00000299697.9:p.Arg67Gly
ENST00000417693.7:c.439C>G ENSP00000407469.4:p.Arg147Gly
ENST00000417693.8:c.313C>G ENSP00000407469.5:p.Arg105Gly
ENST00000451102.6:c.493C>G ENSP00000414334.3:p.Arg165Gly
ENST00000451102.7:c.274C>G ENSP00000414334.4:p.Arg92Gly
ENST00000525974.5:c.76C>G ENSP00000434594.1:p.Arg26Gly
ENST00000527284.5:c.274C>G ENSP00000435312.1:p.Arg92Gly
ENST00000527284.6:c.311C>G
ENST00000527800.5:c.76C>G ENSP00000433770.1:p.Arg26Gly
ENST00000527800.6:c.76C>G ENSP00000433770.1:p.Arg26Gly
ENST00000544898.5:c.367C>G ENSP00000440898.2:p.Arg123Gly
ENST00000545043.6:c.292C>G ENSP00000438143.2:p.Arg98Gly
ENST00000562484.2:c.76C>G ENSP00000463326.1:p.Arg26Gly
ENST00000563369.6:c.76C>G ENSP00000463560.1:p.Arg26Gly
ENST00000563478.5:c.76C>G ENSP00000462341.1:p.Arg26Gly
ENST00000564917.5:c.367C>G ENSP00000455187.1:p.Arg123Gly
ENST00000567357.5:c.*225C>G ENSP00000457959.1:n.*225C>G
ENST00000567357.6:c.*225C>G ENSP00000457959.2:n.*225C>G
ENST00000569718.5:c.261C>G
ENST00000569718.6:c.274C>G ENSP00000464313.2:p.Arg92Gly
ENST00000620035.4:c.313C>G ENSP00000483833.1:p.Arg105Gly
ENST00000620035.5:c.292C>G ENSP00000483833.2:p.Arg98Gly
ENST00000676538.1:c.33-13511C>G
ENST00000677379.1:c.82C>G ENSP00000503672.1:p.Arg28Gly
ENST00000677420.1:c.76C>G ENSP00000504648.1:p.Arg26Gly
ENST00000677497.1:n.254C>G
ENST00000677555.1:c.76C>G ENSP00000503331.1:p.Arg26Gly
ENST00000677715.1:c.76C>G ENSP00000502950.1:p.Arg26Gly
ENST00000677739.1:c.55-2321C>G ENSP00000504644.1:n.55-2321C>G
ENST00000678015.1:c.76C>G ENSP00000502959.1:p.Arg26Gly
ENST00000678297.1:c.76C>G ENSP00000503472.1:p.Arg26Gly
ENST00000678314.1:c.76C>G ENSP00000504438.1:p.Arg26Gly
ENST00000678746.1:c.257C>G ENSP00000503227.1:n.257C>G
ENST00000679154.1:c.114C>G