Canonical Allele Identifier: CA2228922537
Community Standard Title: NM_004614.5(TK2):c.133C= (p.Gln45=)
Gene: TK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66549001G= , CM000678.2:g.66549001G= GRCh38
NC_000016.9:g.66582904G= , CM000678.1:g.66582904G= GRCh37
NC_000016.8:g.65140405G= NCBI36
NG_016862.1:g.6412C=

Transcript Alleles

HGVS Amino-acid Change
NM_004614.5:c.133C= MANE Select NP_004605.4:p.Gln45=
ENST00000544898.6:c.133C= MANE Select ENSP00000440898.2:p.Gln45=
NM_001172643.1:c.40C= NP_001166114.1:p.Gln14=
NM_001172644.1:c.133C= NP_001166115.1:p.Gln45=
NM_001172644.2:c.133C= NP_001166115.1:p.Gln45=
NM_001172645.1:c.133C= NP_001166116.1:p.Gln45=
NM_001172645.2:c.133C= NP_001166116.1:p.Gln45=
NM_001271934.1:c.-110C= NP_001258863.1:n.-110C=
NM_001271934.2:c.-110C= NP_001258863.1:n.-110C=
NM_001271935.1:c.40C= NP_001258864.1:p.Gln14=
NM_001272050.1:c.-159C= NP_001258979.1:n.-159C=
NM_001272050.2:c.-159C= NP_001258979.1:n.-159C=
NM_004614.4:c.133C= NP_004605.4:p.Gln45=
NR_073520.1:n.1412C=
NR_073520.2:n.1122C=
ENST00000299697.11:c.133C= ENSP00000299697.8:p.Gln45=
ENST00000299697.12:c.40C= ENSP00000299697.9:p.Gln14=
ENST00000417693.7:c.259C= ENSP00000407469.4:p.Gln87=
ENST00000417693.8:c.133C= ENSP00000407469.5:p.Gln45=
ENST00000451102.6:c.259C= ENSP00000414334.3:p.Gln87=
ENST00000451102.7:c.40C= ENSP00000414334.4:p.Gln14=
ENST00000525974.5:c.-159C= ENSP00000434594.1:n.-159C=
ENST00000527284.5:c.40C= ENSP00000435312.1:p.Gln14=
ENST00000527284.6:c.77C=
ENST00000527800.5:c.-159C= ENSP00000433770.1:n.-159C=
ENST00000527800.6:c.-159C= ENSP00000433770.1:n.-159C=
ENST00000544898.5:c.133C= ENSP00000440898.2:p.Gln45=
ENST00000545043.6:c.133C= ENSP00000438143.2:p.Gln45=
ENST00000562484.2:c.-159C= ENSP00000463326.1:n.-159C=
ENST00000563369.6:c.-159C= ENSP00000463560.1:n.-159C=
ENST00000563478.5:c.-159C= ENSP00000462341.1:n.-159C=
ENST00000564917.5:c.133C= ENSP00000455187.1:p.Gln45=
ENST00000567357.5:c.259C= ENSP00000457959.1:p.Gln87=
ENST00000567357.6:c.133C= ENSP00000457959.2:p.Gln45=
ENST00000569718.5:c.27C=
ENST00000569718.6:c.40C= ENSP00000464313.2:p.Gln14=
ENST00000620035.4:c.133C= ENSP00000483833.1:p.Gln45=
ENST00000620035.5:c.133C= ENSP00000483833.2:p.Gln45=
ENST00000676536.1:c.9C=
ENST00000676538.1:c.9C=
ENST00000677124.1:n.9C=
ENST00000677412.1:c.9C=
ENST00000677420.1:c.-105C= ENSP00000504648.1:n.-105C=
ENST00000677541.1:c.9C=
ENST00000677555.1:c.-84C= ENSP00000503331.1:n.-84C=
ENST00000677715.1:c.-159C= ENSP00000502950.1:n.-159C=
ENST00000678015.1:c.-159C= ENSP00000502959.1:n.-159C=
ENST00000678205.1:c.9C=
ENST00000678297.1:c.-84C= ENSP00000503472.1:n.-84C=
ENST00000678314.1:c.-61+2539C= ENSP00000504438.1:n.-61+2539C=
ENST00000679154.1:c.9C=
ENST00000679271.1:n.39C=
ENST00000679327.1:n.1104C=