Canonical Allele Identifier: CA2228923764
Community Standard Title: NM_004614.5(TK2):c.103C= (p.Gln35=)
Gene: TK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66549959G= , CM000678.2:g.66549959G= GRCh38
NC_000016.9:g.66583862G= , CM000678.1:g.66583862G= GRCh37
NC_000016.8:g.65141363G= NCBI36
NG_016862.1:g.5454C=

Transcript Alleles

HGVS Amino-acid Change
NM_004614.5:c.103C= MANE Select NP_004605.4:p.Gln35=
ENST00000544898.6:c.103C= MANE Select ENSP00000440898.2:p.Gln35=
NM_001172643.1:c.31+294C= NP_001166114.1:n.31+294C=
NM_001172644.1:c.103C= NP_001166115.1:p.Gln35=
NM_001172644.2:c.103C= NP_001166115.1:p.Gln35=
NM_001172645.1:c.103C= NP_001166116.1:p.Gln35=
NM_001172645.2:c.103C= NP_001166116.1:p.Gln35=
NM_001271934.1:c.-140C= NP_001258863.1:n.-140C=
NM_001271934.2:c.-140C= NP_001258863.1:n.-140C=
NM_001271935.1:c.31+294C= NP_001258864.1:n.31+294C=
NM_001272050.2:c.-550C= NP_001258979.1:n.-550C=
NM_004614.4:c.103C= NP_004605.4:p.Gln35=
NR_073520.1:n.454C=
NR_073520.2:n.164C=
ENST00000299697.11:c.103C= ENSP00000299697.8:p.Gln35=
ENST00000299697.12:c.31+294C= ENSP00000299697.9:n.31+294C=
ENST00000417693.7:c.229C= ENSP00000407469.4:p.Gln77=
ENST00000417693.8:c.103C= ENSP00000407469.5:p.Gln35=
ENST00000451102.6:c.229C= ENSP00000414334.3:p.Gln77=
ENST00000451102.7:c.31+294C= ENSP00000414334.4:n.31+294C=
ENST00000527284.5:c.31+294C= ENSP00000435312.1:n.31+294C=
ENST00000527284.6:c.47C=
ENST00000544898.5:c.103C= ENSP00000440898.2:p.Gln35=
ENST00000545043.6:c.103C= ENSP00000438143.2:p.Gln35=
ENST00000562484.2:c.-167-950C= ENSP00000463326.1:n.-167-950C=
ENST00000563478.5:c.-167-950C= ENSP00000462341.1:n.-167-950C=
ENST00000564917.5:c.103C= ENSP00000455187.1:p.Gln35=
ENST00000567357.5:c.229C= ENSP00000457959.1:p.Gln77=
ENST00000567357.6:c.103C= ENSP00000457959.2:p.Gln35=
ENST00000569718.5:c.18+294C=
ENST00000569718.6:c.31+294C= ENSP00000464313.2:n.31+294C=
ENST00000620035.4:c.103C= ENSP00000483833.1:p.Gln35=
ENST00000620035.5:c.103C= ENSP00000483833.2:p.Gln35=
ENST00000677420.1:c.-1063C= ENSP00000504648.1:n.-1063C=
ENST00000678015.1:c.-167-950C= ENSP00000502959.1:n.-167-950C=
ENST00000678297.1:c.-92-950C= ENSP00000503472.1:n.-92-950C=
ENST00000678314.1:c.-61+1581C= ENSP00000504438.1:n.-61+1581C=
ENST00000679327.1:n.146C=