Canonical Allele Identifier: CA2573054250

Gene: TK2

Linked Data

• ClinVar Variation Id: 1327192
• ClinVar RCV Id: RCV001787472
• dbSNP Id: rs2144339644

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513742del , CM000678.2:g.66513742del	GRCh38
NC_000016.9:g.66547645del , CM000678.1:g.66547645del	GRCh37
NC_000016.8:g.65105146del	NCBI36
NG_016862.1:g.41671del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.520del	ENSP00000299697.9:p.Ala174ProfsTer5
ENST00000417693.8:c.634del	ENSP00000407469.5:p.Ala212ProfsTer5
ENST00000451102.7:c.595del	ENSP00000414334.4:p.Ala199ProfsTer5
ENST00000527284.6:c.563-1676del
ENST00000527800.6:c.397del	ENSP00000433770.1:p.Ala133ProfsTer5
ENST00000544898.6:c.688del MANE Select	ENSP00000440898.2:p.Ala230ProfsTer5
ENST00000567357.6:c.*546del	ENSP00000457959.2:n.*546del
ENST00000569718.6:c.426del	ENSP00000464313.2:p.Gln142HisfsTer7
ENST00000620035.5:c.444del	ENSP00000483833.2:p.Gln148HisfsTer7
ENST00000676538.1:c.271del
ENST00000676904.1:c.159del
ENST00000677296.1:n.70del
ENST00000677379.1:c.329del	ENSP00000503672.1:n.329del
ENST00000677420.1:c.397del	ENSP00000504648.1:p.Ala133ProfsTer5
ENST00000677555.1:c.397del	ENSP00000503331.1:p.Ala133ProfsTer5
ENST00000677715.1:c.397del	ENSP00000502950.1:p.Ala133ProfsTer5
ENST00000677753.1:n.70del
ENST00000677961.1:n.100del
ENST00000678015.1:c.397del	ENSP00000502959.1:p.Ala133ProfsTer5
ENST00000678190.1:c.70del	ENSP00000503824.1:p.Ala24ProfsTer27
ENST00000678282.1:n.70del
ENST00000678297.1:c.397del	ENSP00000503472.1:p.Ala133ProfsTer5
ENST00000299697.11:c.688del	ENSP00000299697.8:p.Ala230ProfsTer5
ENST00000417693.7:c.760del	ENSP00000407469.4:p.Ala254ProfsTer5
ENST00000451102.6:c.814del	ENSP00000414334.3:p.Ala272ProfsTer5
ENST00000525974.5:c.397del	ENSP00000434594.1:p.Ala133ProfsTer5
ENST00000527284.5:c.595del	ENSP00000435312.1:p.Ala199ProfsTer5
ENST00000527800.5:c.397del	ENSP00000433770.1:p.Ala133ProfsTer5
ENST00000544898.5:c.688del	ENSP00000440898.2:p.Ala230ProfsTer5
ENST00000545043.6:c.613del	ENSP00000438143.2:p.Ala205ProfsTer5
ENST00000561527.5:n.247del
ENST00000561728.1:c.137del
ENST00000561905.2:c.42del
ENST00000562552.5:n.504del
ENST00000563099.5:n.215del
ENST00000563369.6:c.397del	ENSP00000463560.1:p.Ala133ProfsTer5
ENST00000564792.1:n.343del
ENST00000564917.5:c.739del	ENSP00000455187.1:p.Ala247ProfsTer5
ENST00000567357.5:c.*546del	ENSP00000457959.1:n.*546del
ENST00000569718.5:c.413del
ENST00000620035.4:c.634del	ENSP00000483833.1:p.Ala212ProfsTer5
NM_001172643.1:c.595del	NP_001166114.1:p.Ala199ProfsTer5
NM_001172644.1:c.613del	NP_001166115.1:p.Ala205ProfsTer5
NM_001172645.1:c.634del	NP_001166116.1:p.Ala212ProfsTer5
NM_001271934.1:c.541del	NP_001258863.1:p.Ala181ProfsTer5
NM_001271935.1:c.426del	NP_001258864.1:p.Gln142HisfsTer7
NM_001272050.1:c.397del	NP_001258979.1:p.Ala133ProfsTer5
NM_004614.4:c.688del	NP_004605.4:p.Ala230ProfsTer5
NR_073520.1:n.1967del
NM_001172644.2:c.613del	NP_001166115.1:p.Ala205ProfsTer5
NM_001271934.2:c.541del	NP_001258863.1:p.Ala181ProfsTer5
NM_001272050.2:c.397del	NP_001258979.1:p.Ala133ProfsTer5
NM_004614.5:c.688del MANE Select	NP_004605.4:p.Ala230ProfsTer5
NR_073520.2:n.1677del
NM_001172645.2:c.634del	NP_001166116.1:p.Ala212ProfsTer5