Canonical Allele Identifier: CA396187068

Gene: TK2

Linked Data

• MyVariant Identifiers: chr16:g.66547649C>A (hg19) ; chr16:g.66513746C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513746C>A , CM000678.2:g.66513746C>A	GRCh38
NC_000016.9:g.66547649C>A , CM000678.1:g.66547649C>A	GRCh37
NC_000016.8:g.65105150C>A	NCBI36
NG_016862.1:g.41667G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.516G>T	ENSP00000299697.9:p.Met172Ile
ENST00000417693.8:c.630G>T	ENSP00000407469.5:p.Met210Ile
ENST00000451102.7:c.591G>T	ENSP00000414334.4:p.Met197Ile
ENST00000527284.6:c.563-1680G>T
ENST00000527800.6:c.393G>T	ENSP00000433770.1:p.Met131Ile
ENST00000544898.6:c.684G>T MANE Select	ENSP00000440898.2:p.Met228Ile
ENST00000567357.6:c.*542G>T	ENSP00000457959.2:n.*542G>T
ENST00000569718.6:c.422G>T	ENSP00000464313.2:p.Trp141Leu
ENST00000620035.5:c.440G>T	ENSP00000483833.2:p.Trp147Leu
ENST00000676538.1:c.267G>T
ENST00000676904.1:c.155G>T
ENST00000677296.1:n.66G>T
ENST00000677379.1:c.325G>T	ENSP00000503672.1:n.325G>T
ENST00000677420.1:c.393G>T	ENSP00000504648.1:p.Met131Ile
ENST00000677555.1:c.393G>T	ENSP00000503331.1:p.Met131Ile
ENST00000677715.1:c.393G>T	ENSP00000502950.1:p.Met131Ile
ENST00000677753.1:n.66G>T
ENST00000677961.1:n.96G>T
ENST00000678015.1:c.393G>T	ENSP00000502959.1:p.Met131Ile
ENST00000678190.1:c.66G>T	ENSP00000503824.1:p.Met22Ile
ENST00000678282.1:n.66G>T
ENST00000678297.1:c.393G>T	ENSP00000503472.1:p.Met131Ile
ENST00000299697.11:c.684G>T	ENSP00000299697.8:p.Met228Ile
ENST00000417693.7:c.756G>T	ENSP00000407469.4:p.Met252Ile
ENST00000451102.6:c.810G>T	ENSP00000414334.3:p.Met270Ile
ENST00000525974.5:c.393G>T	ENSP00000434594.1:p.Met131Ile
ENST00000527284.5:c.591G>T	ENSP00000435312.1:p.Met197Ile
ENST00000527800.5:c.393G>T	ENSP00000433770.1:p.Met131Ile
ENST00000544898.5:c.684G>T	ENSP00000440898.2:p.Met228Ile
ENST00000545043.6:c.609G>T	ENSP00000438143.2:p.Met203Ile
ENST00000561527.5:n.243G>T
ENST00000561728.1:c.133G>T
ENST00000561905.2:c.38G>T
ENST00000562552.5:n.500G>T
ENST00000563099.5:n.211G>T
ENST00000563369.6:c.393G>T	ENSP00000463560.1:p.Met131Ile
ENST00000564792.1:n.339G>T
ENST00000564917.5:c.735G>T	ENSP00000455187.1:p.Met245Ile
ENST00000567357.5:c.*542G>T	ENSP00000457959.1:n.*542G>T
ENST00000569718.5:c.409G>T
ENST00000620035.4:c.630G>T	ENSP00000483833.1:p.Met210Ile
NM_001172643.1:c.591G>T	NP_001166114.1:p.Met197Ile
NM_001172644.1:c.609G>T	NP_001166115.1:p.Met203Ile
NM_001172645.1:c.630G>T	NP_001166116.1:p.Met210Ile
NM_001271934.1:c.537G>T	NP_001258863.1:p.Met179Ile
NM_001271935.1:c.422G>T	NP_001258864.1:p.Trp141Leu
NM_001272050.1:c.393G>T	NP_001258979.1:p.Met131Ile
NM_004614.4:c.684G>T	NP_004605.4:p.Met228Ile
NR_073520.1:n.1963G>T
NM_001172644.2:c.609G>T	NP_001166115.1:p.Met203Ile
NM_001271934.2:c.537G>T	NP_001258863.1:p.Met179Ile
NM_001272050.2:c.393G>T	NP_001258979.1:p.Met131Ile
NM_004614.5:c.684G>T MANE Select	NP_004605.4:p.Met228Ile
NR_073520.2:n.1673G>T
NM_001172645.2:c.630G>T	NP_001166116.1:p.Met210Ile