Canonical Allele Identifier: CA396189888
Community Standard Title: NM_004614.5(TK2):c.416C>G (p.Ala139Gly)
Gene: TK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66529027G>C , CM000678.2:g.66529027G>C GRCh38
NC_000016.9:g.66562930G>C , CM000678.1:g.66562930G>C GRCh37
NC_000016.8:g.65120431G>C NCBI36
NG_016862.1:g.26386C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004614.5:c.416C>G MANE Select NP_004605.4:p.Ala139Gly
ENST00000544898.6:c.416C>G MANE Select ENSP00000440898.2:p.Ala139Gly
NM_001172643.1:c.323C>G NP_001166114.1:p.Ala108Gly
NM_001172644.1:c.341C>G NP_001166115.1:p.Ala114Gly
NM_001172644.2:c.341C>G NP_001166115.1:p.Ala114Gly
NM_001172645.1:c.362C>G NP_001166116.1:p.Ala121Gly
NM_001172645.2:c.362C>G NP_001166116.1:p.Ala121Gly
NM_001271934.1:c.269C>G NP_001258863.1:p.Ala90Gly
NM_001271934.2:c.269C>G NP_001258863.1:p.Ala90Gly
NM_001271935.1:c.323C>G NP_001258864.1:p.Ala108Gly
NM_001272050.1:c.125C>G NP_001258979.1:p.Ala42Gly
NM_001272050.2:c.125C>G NP_001258979.1:p.Ala42Gly
NM_004614.4:c.416C>G NP_004605.4:p.Ala139Gly
NR_073520.1:n.1695C>G
NR_073520.2:n.1405C>G
ENST00000299697.11:c.416C>G ENSP00000299697.8:p.Ala139Gly
ENST00000299697.12:c.248C>G ENSP00000299697.9:p.Ala83Gly
ENST00000417693.7:c.488C>G ENSP00000407469.4:p.Ala163Gly
ENST00000417693.8:c.362C>G ENSP00000407469.5:p.Ala121Gly
ENST00000451102.6:c.542C>G ENSP00000414334.3:p.Ala181Gly
ENST00000451102.7:c.323C>G ENSP00000414334.4:p.Ala108Gly
ENST00000525974.5:c.125C>G ENSP00000434594.1:p.Ala42Gly
ENST00000527284.5:c.323C>G ENSP00000435312.1:p.Ala108Gly
ENST00000527284.6:c.360C>G
ENST00000527800.5:c.125C>G ENSP00000433770.1:p.Ala42Gly
ENST00000527800.6:c.125C>G ENSP00000433770.1:p.Ala42Gly
ENST00000544898.5:c.416C>G ENSP00000440898.2:p.Ala139Gly
ENST00000545043.6:c.341C>G ENSP00000438143.2:p.Ala114Gly
ENST00000562484.2:c.125C>G ENSP00000463326.1:p.Ala42Gly
ENST00000563369.6:c.125C>G ENSP00000463560.1:p.Ala42Gly
ENST00000563478.5:c.125C>G ENSP00000462341.1:p.Ala42Gly
ENST00000564917.5:c.416C>G ENSP00000455187.1:p.Ala139Gly
ENST00000567357.5:c.*274C>G ENSP00000457959.1:n.*274C>G
ENST00000567357.6:c.*274C>G ENSP00000457959.2:n.*274C>G
ENST00000569718.5:c.310C>G
ENST00000569718.6:c.323C>G ENSP00000464313.2:p.Ala108Gly
ENST00000620035.4:c.362C>G ENSP00000483833.1:p.Ala121Gly
ENST00000620035.5:c.341C>G ENSP00000483833.2:p.Ala114Gly
ENST00000676538.1:c.33-11150C>G
ENST00000677379.1:c.90+2353C>G ENSP00000503672.1:n.90+2353C>G
ENST00000677420.1:c.125C>G ENSP00000504648.1:p.Ala42Gly
ENST00000677555.1:c.125C>G ENSP00000503331.1:p.Ala42Gly
ENST00000677715.1:c.125C>G ENSP00000502950.1:p.Ala42Gly
ENST00000677739.1:c.95C>G ENSP00000504644.1:p.Ala32Gly
ENST00000678015.1:c.125C>G ENSP00000502959.1:p.Ala42Gly
ENST00000678297.1:c.125C>G ENSP00000503472.1:p.Ala42Gly
ENST00000678314.1:c.125C>G ENSP00000504438.1:p.Ala42Gly
ENST00000678746.1:c.306C>G ENSP00000503227.1:n.306C>G