Canonical Allele Identifier: CA396187054

Gene: TK2

Linked Data

• ClinVar Variation Id: 2123450
• ClinVar RCV Id: RCV003035419
• gnomAD v4: 16-66513741-G-A
• MyVariant Identifiers: chr16:g.66547644G>A (hg19) ; chr16:g.66513741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513741G>A , CM000678.2:g.66513741G>A	GRCh38
NC_000016.9:g.66547644G>A , CM000678.1:g.66547644G>A	GRCh37
NC_000016.8:g.65105145G>A	NCBI36
NG_016862.1:g.41672C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.521C>T	ENSP00000299697.9:p.Ala174Val
ENST00000417693.8:c.635C>T	ENSP00000407469.5:p.Ala212Val
ENST00000451102.7:c.596C>T	ENSP00000414334.4:p.Ala199Val
ENST00000527284.6:c.563-1675C>T
ENST00000527800.6:c.398C>T	ENSP00000433770.1:p.Ala133Val
ENST00000544898.6:c.689C>T MANE Select	ENSP00000440898.2:p.Ala230Val
ENST00000567357.6:c.*547C>T	ENSP00000457959.2:n.*547C>T
ENST00000569718.6:c.427C>T	ENSP00000464313.2:p.Pro143Ser
ENST00000620035.5:c.445C>T	ENSP00000483833.2:p.Pro149Ser
ENST00000676538.1:c.272C>T
ENST00000676904.1:c.160C>T
ENST00000677296.1:n.71C>T
ENST00000677379.1:c.330C>T	ENSP00000503672.1:n.330C>T
ENST00000677420.1:c.398C>T	ENSP00000504648.1:p.Ala133Val
ENST00000677555.1:c.398C>T	ENSP00000503331.1:p.Ala133Val
ENST00000677715.1:c.398C>T	ENSP00000502950.1:p.Ala133Val
ENST00000677753.1:n.71C>T
ENST00000677961.1:n.101C>T
ENST00000678015.1:c.398C>T	ENSP00000502959.1:p.Ala133Val
ENST00000678190.1:c.71C>T	ENSP00000503824.1:p.Ala24Val
ENST00000678282.1:n.71C>T
ENST00000678297.1:c.398C>T	ENSP00000503472.1:p.Ala133Val
ENST00000299697.11:c.689C>T	ENSP00000299697.8:p.Ala230Val
ENST00000417693.7:c.761C>T	ENSP00000407469.4:p.Ala254Val
ENST00000451102.6:c.815C>T	ENSP00000414334.3:p.Ala272Val
ENST00000525974.5:c.398C>T	ENSP00000434594.1:p.Ala133Val
ENST00000527284.5:c.596C>T	ENSP00000435312.1:p.Ala199Val
ENST00000527800.5:c.398C>T	ENSP00000433770.1:p.Ala133Val
ENST00000544898.5:c.689C>T	ENSP00000440898.2:p.Ala230Val
ENST00000545043.6:c.614C>T	ENSP00000438143.2:p.Ala205Val
ENST00000561527.5:n.248C>T
ENST00000561728.1:c.138C>T
ENST00000561905.2:c.43C>T
ENST00000562552.5:n.505C>T
ENST00000563099.5:n.216C>T
ENST00000563369.6:c.398C>T	ENSP00000463560.1:p.Ala133Val
ENST00000564792.1:n.344C>T
ENST00000564917.5:c.740C>T	ENSP00000455187.1:p.Ala247Val
ENST00000567357.5:c.*547C>T	ENSP00000457959.1:n.*547C>T
ENST00000569718.5:c.414C>T
ENST00000620035.4:c.635C>T	ENSP00000483833.1:p.Ala212Val
NM_001172643.1:c.596C>T	NP_001166114.1:p.Ala199Val
NM_001172644.1:c.614C>T	NP_001166115.1:p.Ala205Val
NM_001172645.1:c.635C>T	NP_001166116.1:p.Ala212Val
NM_001271934.1:c.542C>T	NP_001258863.1:p.Ala181Val
NM_001271935.1:c.427C>T	NP_001258864.1:p.Pro143Ser
NM_001272050.1:c.398C>T	NP_001258979.1:p.Ala133Val
NM_004614.4:c.689C>T	NP_004605.4:p.Ala230Val
NR_073520.1:n.1968C>T
NM_001172644.2:c.614C>T	NP_001166115.1:p.Ala205Val
NM_001271934.2:c.542C>T	NP_001258863.1:p.Ala181Val
NM_001272050.2:c.398C>T	NP_001258979.1:p.Ala133Val
NM_004614.5:c.689C>T MANE Select	NP_004605.4:p.Ala230Val
NR_073520.2:n.1678C>T
NM_001172645.2:c.635C>T	NP_001166116.1:p.Ala212Val