Canonical Allele Identifier: CA2228911884
Community Standard Title: NM_004614.5(TK2):c.415G= (p.Ala139=)
Gene: TK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66529028C= , CM000678.2:g.66529028C= GRCh38
NC_000016.9:g.66562931C= , CM000678.1:g.66562931C= GRCh37
NC_000016.8:g.65120432C= NCBI36
NG_016862.1:g.26385G=

Transcript Alleles

HGVS Amino-acid Change
NM_004614.5:c.415G= MANE Select NP_004605.4:p.Ala139=
ENST00000544898.6:c.415G= MANE Select ENSP00000440898.2:p.Ala139=
NM_001172643.1:c.322G= NP_001166114.1:p.Ala108=
NM_001172644.1:c.340G= NP_001166115.1:p.Ala114=
NM_001172644.2:c.340G= NP_001166115.1:p.Ala114=
NM_001172645.1:c.361G= NP_001166116.1:p.Ala121=
NM_001172645.2:c.361G= NP_001166116.1:p.Ala121=
NM_001271934.1:c.268G= NP_001258863.1:p.Ala90=
NM_001271934.2:c.268G= NP_001258863.1:p.Ala90=
NM_001271935.1:c.322G= NP_001258864.1:p.Ala108=
NM_001272050.1:c.124G= NP_001258979.1:p.Ala42=
NM_001272050.2:c.124G= NP_001258979.1:p.Ala42=
NM_004614.4:c.415G= NP_004605.4:p.Ala139=
NR_073520.1:n.1694G=
NR_073520.2:n.1404G=
ENST00000299697.11:c.415G= ENSP00000299697.8:p.Ala139=
ENST00000299697.12:c.247G= ENSP00000299697.9:p.Ala83=
ENST00000417693.7:c.487G= ENSP00000407469.4:p.Ala163=
ENST00000417693.8:c.361G= ENSP00000407469.5:p.Ala121=
ENST00000451102.6:c.541G= ENSP00000414334.3:p.Ala181=
ENST00000451102.7:c.322G= ENSP00000414334.4:p.Ala108=
ENST00000525974.5:c.124G= ENSP00000434594.1:p.Ala42=
ENST00000527284.5:c.322G= ENSP00000435312.1:p.Ala108=
ENST00000527284.6:c.359G=
ENST00000527800.5:c.124G= ENSP00000433770.1:p.Ala42=
ENST00000527800.6:c.124G= ENSP00000433770.1:p.Ala42=
ENST00000544898.5:c.415G= ENSP00000440898.2:p.Ala139=
ENST00000545043.6:c.340G= ENSP00000438143.2:p.Ala114=
ENST00000562484.2:c.124G= ENSP00000463326.1:p.Ala42=
ENST00000563369.6:c.124G= ENSP00000463560.1:p.Ala42=
ENST00000563478.5:c.124G= ENSP00000462341.1:p.Ala42=
ENST00000564917.5:c.415G= ENSP00000455187.1:p.Ala139=
ENST00000567357.5:c.*273G= ENSP00000457959.1:n.*273G=
ENST00000567357.6:c.*273G= ENSP00000457959.2:n.*273G=
ENST00000569718.5:c.309G=
ENST00000569718.6:c.322G= ENSP00000464313.2:p.Ala108=
ENST00000620035.4:c.361G= ENSP00000483833.1:p.Ala121=
ENST00000620035.5:c.340G= ENSP00000483833.2:p.Ala114=
ENST00000676538.1:c.33-11151G=
ENST00000677379.1:c.90+2352G= ENSP00000503672.1:n.90+2352G=
ENST00000677420.1:c.124G= ENSP00000504648.1:p.Ala42=
ENST00000677555.1:c.124G= ENSP00000503331.1:p.Ala42=
ENST00000677715.1:c.124G= ENSP00000502950.1:p.Ala42=
ENST00000677739.1:c.94G= ENSP00000504644.1:p.Ala32=
ENST00000678015.1:c.124G= ENSP00000502959.1:p.Ala42=
ENST00000678297.1:c.124G= ENSP00000503472.1:p.Ala42=
ENST00000678314.1:c.124G= ENSP00000504438.1:p.Ala42=
ENST00000678746.1:c.305G= ENSP00000503227.1:n.305G=