Canonical Allele Identifier: CA396187246

Gene: TK2

Linked Data

• ClinVar Variation Id: 2437099
• ClinVar RCV Id: RCV003141019
• MyVariant Identifiers: chr16:g.66547686T>A (hg19) ; chr16:g.66513783T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513783T>A , CM000678.2:g.66513783T>A	GRCh38
NC_000016.9:g.66547686T>A , CM000678.1:g.66547686T>A	GRCh37
NC_000016.8:g.65105187T>A	NCBI36
NG_016862.1:g.41630A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.479A>T	ENSP00000299697.9:p.His160Leu
ENST00000417693.8:c.593A>T	ENSP00000407469.5:p.His198Leu
ENST00000451102.7:c.554A>T	ENSP00000414334.4:p.His185Leu
ENST00000527284.6:c.563-1717A>T
ENST00000527800.6:c.356A>T	ENSP00000433770.1:p.His119Leu
ENST00000544898.6:c.647A>T MANE Select	ENSP00000440898.2:p.His216Leu
ENST00000567357.6:c.*505A>T	ENSP00000457959.2:n.*505A>T
ENST00000569718.6:c.385A>T	ENSP00000464313.2:p.Met129Leu
ENST00000620035.5:c.403A>T	ENSP00000483833.2:p.Met135Leu
ENST00000676538.1:c.230A>T
ENST00000676904.1:c.118A>T
ENST00000677296.1:n.29A>T
ENST00000677379.1:c.288A>T	ENSP00000503672.1:n.288A>T
ENST00000677420.1:c.356A>T	ENSP00000504648.1:p.His119Leu
ENST00000677555.1:c.356A>T	ENSP00000503331.1:p.His119Leu
ENST00000677715.1:c.356A>T	ENSP00000502950.1:p.His119Leu
ENST00000677753.1:n.29A>T
ENST00000677961.1:n.59A>T
ENST00000678015.1:c.356A>T	ENSP00000502959.1:p.His119Leu
ENST00000678190.1:c.29A>T	ENSP00000503824.1:p.His10Leu
ENST00000678282.1:n.29A>T
ENST00000678297.1:c.356A>T	ENSP00000503472.1:p.His119Leu
ENST00000299697.11:c.647A>T	ENSP00000299697.8:p.His216Leu
ENST00000417693.7:c.719A>T	ENSP00000407469.4:p.His240Leu
ENST00000451102.6:c.773A>T	ENSP00000414334.3:p.His258Leu
ENST00000525974.5:c.356A>T	ENSP00000434594.1:p.His119Leu
ENST00000527284.5:c.554A>T	ENSP00000435312.1:p.His185Leu
ENST00000527800.5:c.356A>T	ENSP00000433770.1:p.His119Leu
ENST00000544898.5:c.647A>T	ENSP00000440898.2:p.His216Leu
ENST00000545043.6:c.572A>T	ENSP00000438143.2:p.His191Leu
ENST00000561527.5:n.206A>T
ENST00000561728.1:c.96A>T
ENST00000561905.2:c.1A>T
ENST00000562552.5:n.463A>T
ENST00000563099.5:n.174A>T
ENST00000563369.6:c.356A>T	ENSP00000463560.1:p.His119Leu
ENST00000563478.5:c.356A>T	ENSP00000462341.1:p.His119Leu
ENST00000564792.1:n.302A>T
ENST00000564917.5:c.698A>T	ENSP00000455187.1:p.His233Leu
ENST00000567357.5:c.*505A>T	ENSP00000457959.1:n.*505A>T
ENST00000569718.5:c.372A>T
ENST00000620035.4:c.593A>T	ENSP00000483833.1:p.His198Leu
NM_001172643.1:c.554A>T	NP_001166114.1:p.His185Leu
NM_001172644.1:c.572A>T	NP_001166115.1:p.His191Leu
NM_001172645.1:c.593A>T	NP_001166116.1:p.His198Leu
NM_001271934.1:c.500A>T	NP_001258863.1:p.His167Leu
NM_001271935.1:c.385A>T	NP_001258864.1:p.Met129Leu
NM_001272050.1:c.356A>T	NP_001258979.1:p.His119Leu
NM_004614.4:c.647A>T	NP_004605.4:p.His216Leu
NR_073520.1:n.1926A>T
NM_001172644.2:c.572A>T	NP_001166115.1:p.His191Leu
NM_001271934.2:c.500A>T	NP_001258863.1:p.His167Leu
NM_001272050.2:c.356A>T	NP_001258979.1:p.His119Leu
NM_004614.5:c.647A>T MANE Select	NP_004605.4:p.His216Leu
NR_073520.2:n.1636A>T
NM_001172645.2:c.593A>T	NP_001166116.1:p.His198Leu