Canonical Allele Identifier: CA396187194

Gene: TK2

Linked Data

• MyVariant Identifiers: chr16:g.66547677C>A (hg19) ; chr16:g.66513774C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513774C>A , CM000678.2:g.66513774C>A	GRCh38
NC_000016.9:g.66547677C>A , CM000678.1:g.66547677C>A	GRCh37
NC_000016.8:g.65105178C>A	NCBI36
NG_016862.1:g.41639G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.488G>T	ENSP00000299697.9:p.Trp163Leu
ENST00000417693.8:c.602G>T	ENSP00000407469.5:p.Trp201Leu
ENST00000451102.7:c.563G>T	ENSP00000414334.4:p.Trp188Leu
ENST00000527284.6:c.563-1708G>T
ENST00000527800.6:c.365G>T	ENSP00000433770.1:p.Trp122Leu
ENST00000544898.6:c.656G>T MANE Select	ENSP00000440898.2:p.Trp219Leu
ENST00000567357.6:c.*514G>T	ENSP00000457959.2:n.*514G>T
ENST00000569718.6:c.394G>T	ENSP00000464313.2:p.Gly132Cys
ENST00000620035.5:c.412G>T	ENSP00000483833.2:p.Gly138Cys
ENST00000676538.1:c.239G>T
ENST00000676904.1:c.127G>T
ENST00000677296.1:n.38G>T
ENST00000677379.1:c.297G>T	ENSP00000503672.1:n.297G>T
ENST00000677420.1:c.365G>T	ENSP00000504648.1:p.Trp122Leu
ENST00000677555.1:c.365G>T	ENSP00000503331.1:p.Trp122Leu
ENST00000677715.1:c.365G>T	ENSP00000502950.1:p.Trp122Leu
ENST00000677753.1:n.38G>T
ENST00000677961.1:n.68G>T
ENST00000678015.1:c.365G>T	ENSP00000502959.1:p.Trp122Leu
ENST00000678190.1:c.38G>T	ENSP00000503824.1:p.Trp13Leu
ENST00000678282.1:n.38G>T
ENST00000678297.1:c.365G>T	ENSP00000503472.1:p.Trp122Leu
ENST00000299697.11:c.656G>T	ENSP00000299697.8:p.Trp219Leu
ENST00000417693.7:c.728G>T	ENSP00000407469.4:p.Trp243Leu
ENST00000451102.6:c.782G>T	ENSP00000414334.3:p.Trp261Leu
ENST00000525974.5:c.365G>T	ENSP00000434594.1:p.Trp122Leu
ENST00000527284.5:c.563G>T	ENSP00000435312.1:p.Trp188Leu
ENST00000527800.5:c.365G>T	ENSP00000433770.1:p.Trp122Leu
ENST00000544898.5:c.656G>T	ENSP00000440898.2:p.Trp219Leu
ENST00000545043.6:c.581G>T	ENSP00000438143.2:p.Trp194Leu
ENST00000561527.5:n.215G>T
ENST00000561728.1:c.105G>T
ENST00000561905.2:c.10G>T
ENST00000562552.5:n.472G>T
ENST00000563099.5:n.183G>T
ENST00000563369.6:c.365G>T	ENSP00000463560.1:p.Trp122Leu
ENST00000563478.5:c.365G>T	ENSP00000462341.1:p.Trp122Leu
ENST00000564792.1:n.311G>T
ENST00000564917.5:c.707G>T	ENSP00000455187.1:p.Trp236Leu
ENST00000567357.5:c.*514G>T	ENSP00000457959.1:n.*514G>T
ENST00000569718.5:c.381G>T
ENST00000620035.4:c.602G>T	ENSP00000483833.1:p.Trp201Leu
NM_001172643.1:c.563G>T	NP_001166114.1:p.Trp188Leu
NM_001172644.1:c.581G>T	NP_001166115.1:p.Trp194Leu
NM_001172645.1:c.602G>T	NP_001166116.1:p.Trp201Leu
NM_001271934.1:c.509G>T	NP_001258863.1:p.Trp170Leu
NM_001271935.1:c.394G>T	NP_001258864.1:p.Gly132Cys
NM_001272050.1:c.365G>T	NP_001258979.1:p.Trp122Leu
NM_004614.4:c.656G>T	NP_004605.4:p.Trp219Leu
NR_073520.1:n.1935G>T
NM_001172644.2:c.581G>T	NP_001166115.1:p.Trp194Leu
NM_001271934.2:c.509G>T	NP_001258863.1:p.Trp170Leu
NM_001272050.2:c.365G>T	NP_001258979.1:p.Trp122Leu
NM_004614.5:c.656G>T MANE Select	NP_004605.4:p.Trp219Leu
NR_073520.2:n.1645G>T
NM_001172645.2:c.602G>T	NP_001166116.1:p.Trp201Leu