Canonical Allele Identifier: CA2228900671
Community Standard Title: NM_004614.5(TK2):c.547C= (p.Arg183=)
Gene: TK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66517207G= , CM000678.2:g.66517207G= GRCh38
NC_000016.9:g.66551110G= , CM000678.1:g.66551110G= GRCh37
NC_000016.8:g.65108611G= NCBI36
NG_016862.1:g.38206C=

Transcript Alleles

HGVS Amino-acid Change
NM_004614.5:c.547C= MANE Select NP_004605.4:p.Arg183=
ENST00000544898.6:c.547C= MANE Select ENSP00000440898.2:p.Arg183=
NM_001172643.1:c.454C= NP_001166114.1:p.Arg152=
NM_001172644.1:c.472C= NP_001166115.1:p.Arg158=
NM_001172644.2:c.472C= NP_001166115.1:p.Arg158=
NM_001172645.1:c.493C= NP_001166116.1:p.Arg165=
NM_001172645.2:c.493C= NP_001166116.1:p.Arg165=
NM_001271934.1:c.400C= NP_001258863.1:p.Arg134=
NM_001271934.2:c.400C= NP_001258863.1:p.Arg134=
NM_001271935.1:c.357-3396C= NP_001258864.1:n.357-3396C=
NM_001272050.1:c.256C= NP_001258979.1:p.Arg86=
NM_001272050.2:c.256C= NP_001258979.1:p.Arg86=
NM_004614.4:c.547C= NP_004605.4:p.Arg183=
NR_073520.1:n.1826C=
NR_073520.2:n.1536C=
ENST00000299697.11:c.547C= ENSP00000299697.8:p.Arg183=
ENST00000299697.12:c.379C= ENSP00000299697.9:p.Arg127=
ENST00000417693.7:c.619C= ENSP00000407469.4:p.Arg207=
ENST00000417693.8:c.493C= ENSP00000407469.5:p.Arg165=
ENST00000451102.6:c.673C= ENSP00000414334.3:p.Arg225=
ENST00000451102.7:c.454C= ENSP00000414334.4:p.Arg152=
ENST00000525974.5:c.256C= ENSP00000434594.1:p.Arg86=
ENST00000527284.5:c.454C= ENSP00000435312.1:p.Arg152=
ENST00000527284.6:c.491C=
ENST00000527800.5:c.256C= ENSP00000433770.1:p.Arg86=
ENST00000527800.6:c.256C= ENSP00000433770.1:p.Arg86=
ENST00000544898.5:c.547C= ENSP00000440898.2:p.Arg183=
ENST00000545043.6:c.472C= ENSP00000438143.2:p.Arg158=
ENST00000561527.5:n.106C=
ENST00000562484.2:c.256C= ENSP00000463326.1:p.Arg86=
ENST00000562552.5:n.363C=
ENST00000563099.5:n.74C=
ENST00000563369.6:c.256C= ENSP00000463560.1:p.Arg86=
ENST00000563478.5:c.256C= ENSP00000462341.1:p.Arg86=
ENST00000564792.1:n.202C=
ENST00000564917.5:c.547C= ENSP00000455187.1:p.Arg183=
ENST00000567357.5:c.*405C= ENSP00000457959.1:n.*405C=
ENST00000567357.6:c.*405C= ENSP00000457959.2:n.*405C=
ENST00000569718.5:c.344-3396C=
ENST00000569718.6:c.357-3396C= ENSP00000464313.2:n.357-3396C=
ENST00000620035.4:c.493C= ENSP00000483833.1:p.Arg165=
ENST00000620035.5:c.375-3396C= ENSP00000483833.2:n.375-3396C=
ENST00000676538.1:c.130C=
ENST00000676904.1:c.89+582C=
ENST00000677379.1:c.188C= ENSP00000503672.1:n.188C=
ENST00000677420.1:c.256C= ENSP00000504648.1:p.Arg86=
ENST00000677555.1:c.256C= ENSP00000503331.1:p.Arg86=
ENST00000677715.1:c.256C= ENSP00000502950.1:p.Arg86=
ENST00000678015.1:c.256C= ENSP00000502959.1:p.Arg86=
ENST00000678297.1:c.256C= ENSP00000503472.1:p.Arg86=
ENST00000678314.1:c.256C= ENSP00000504438.1:p.Arg86=