Canonical Allele Identifier: CA16607434
Gene: TK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 384234
ClinVar RCV Id: RCV000428934
dbSNP Id: rs1057521899

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66512039T>G , CM000678.2:g.66512039T>G GRCh38
NC_000016.9:g.66545942T>G , CM000678.1:g.66545942T>G GRCh37
NC_000016.8:g.65103443T>G NCBI36
NG_016862.1:g.43374A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299697.12:c.559A>C ENSP00000299697.9:p.Arg187=
ENST00000417693.8:c.673A>C ENSP00000407469.5:p.Arg225=
ENST00000451102.7:c.634A>C ENSP00000414334.4:p.Arg212=
ENST00000527284.6:c.590A>C
ENST00000527800.6:c.436A>C ENSP00000433770.1:p.Arg146=
ENST00000544898.6:c.727A>C MANE Select ENSP00000440898.2:p.Arg243=
ENST00000567357.6:c.*585A>C ENSP00000457959.2:n.*585A>C
ENST00000569718.6:c.*24A>C ENSP00000464313.2:n.*24A>C
ENST00000620035.5:c.*24A>C ENSP00000483833.2:n.*24A>C
ENST00000677166.1:n.28A>C
ENST00000677319.1:c.28A>C ENSP00000503900.1:p.Arg10=
ENST00000677420.1:c.436A>C ENSP00000504648.1:p.Arg146=
ENST00000677535.1:c.28A>C ENSP00000502856.1:p.Arg10=
ENST00000677555.1:c.436A>C ENSP00000503331.1:p.Arg146=
ENST00000677715.1:c.436A>C ENSP00000502950.1:p.Arg146=
ENST00000677753.1:n.81+1692A>C
ENST00000678015.1:c.436A>C ENSP00000502959.1:p.Arg146=
ENST00000678099.1:c.28A>C ENSP00000504701.1:p.Arg10=
ENST00000678190.1:c.175A>C ENSP00000503824.1:p.Arg59=
ENST00000678219.1:c.28A>C ENSP00000504142.1:p.Arg10=
ENST00000678282.1:n.81+1692A>C
ENST00000678297.1:c.436A>C ENSP00000503472.1:p.Arg146=
ENST00000678861.1:c.28A>C ENSP00000502932.1:p.Arg10=
ENST00000299697.11:c.727A>C ENSP00000299697.8:p.Arg243=
ENST00000417693.7:c.799A>C ENSP00000407469.4:p.Arg267=
ENST00000451102.6:c.853A>C ENSP00000414334.3:p.Arg285=
ENST00000525974.5:c.436A>C ENSP00000434594.1:p.Arg146=
ENST00000527284.5:c.634A>C ENSP00000435312.1:p.Arg212=
ENST00000527800.5:c.436A>C ENSP00000433770.1:p.Arg146=
ENST00000544898.5:c.727A>C ENSP00000440898.2:p.Arg243=
ENST00000545043.6:c.652A>C ENSP00000438143.2:p.Arg218=
ENST00000561527.5:n.258+1692A>C
ENST00000561728.1:c.148+1692A>C
ENST00000561905.2:c.53+1692A>C
ENST00000562552.5:n.543A>C
ENST00000563099.5:n.254A>C
ENST00000563369.6:c.436A>C ENSP00000463560.1:p.Arg146=
ENST00000564792.1:n.382A>C
ENST00000564917.5:c.778A>C ENSP00000455187.1:p.Arg260=
ENST00000567357.5:c.*585A>C ENSP00000457959.1:n.*585A>C
ENST00000569718.5:c.452A>C
ENST00000620035.4:c.673A>C ENSP00000483833.1:p.Arg225=
NM_001172643.1:c.634A>C NP_001166114.1:p.Arg212=
NM_001172644.1:c.652A>C NP_001166115.1:p.Arg218=
NM_001172645.1:c.673A>C NP_001166116.1:p.Arg225=
NM_001271934.1:c.580A>C NP_001258863.1:p.Arg194=
NM_001271935.1:c.*24A>C NP_001258864.1:n.*24A>C
NM_001272050.1:c.436A>C NP_001258979.1:p.Arg146=
NM_004614.4:c.727A>C NP_004605.4:p.Arg243=
NR_073520.1:n.2006A>C
NM_001172644.2:c.652A>C NP_001166115.1:p.Arg218=
NM_001271934.2:c.580A>C NP_001258863.1:p.Arg194=
NM_001272050.2:c.436A>C NP_001258979.1:p.Arg146=
NM_004614.5:c.727A>C MANE Select NP_004605.4:p.Arg243=
NR_073520.2:n.1716A>C
NM_001172645.2:c.673A>C NP_001166116.1:p.Arg225=