Canonical Allele Identifier: CA396187266

Gene: TK2

Linked Data

• MyVariant Identifiers: chr16:g.66547691A>C (hg19) ; chr16:g.66513788A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513788A>C , CM000678.2:g.66513788A>C	GRCh38
NC_000016.9:g.66547691A>C , CM000678.1:g.66547691A>C	GRCh37
NC_000016.8:g.65105192A>C	NCBI36
NG_016862.1:g.41625T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.474T>G	ENSP00000299697.9:p.His158Gln
ENST00000417693.8:c.588T>G	ENSP00000407469.5:p.His196Gln
ENST00000451102.7:c.549T>G	ENSP00000414334.4:p.His183Gln
ENST00000527284.6:c.563-1722T>G
ENST00000527800.6:c.351T>G	ENSP00000433770.1:p.His117Gln
ENST00000544898.6:c.642T>G MANE Select	ENSP00000440898.2:p.His214Gln
ENST00000567357.6:c.*500T>G	ENSP00000457959.2:n.*500T>G
ENST00000569718.6:c.380T>G	ENSP00000464313.2:p.Ile127Ser
ENST00000620035.5:c.398T>G	ENSP00000483833.2:p.Ile133Ser
ENST00000676538.1:c.225T>G
ENST00000676904.1:c.113T>G
ENST00000677296.1:n.24T>G
ENST00000677379.1:c.283T>G	ENSP00000503672.1:n.283T>G
ENST00000677420.1:c.351T>G	ENSP00000504648.1:p.His117Gln
ENST00000677555.1:c.351T>G	ENSP00000503331.1:p.His117Gln
ENST00000677715.1:c.351T>G	ENSP00000502950.1:p.His117Gln
ENST00000677753.1:n.24T>G
ENST00000677961.1:n.54T>G
ENST00000678015.1:c.351T>G	ENSP00000502959.1:p.His117Gln
ENST00000678190.1:c.24T>G	ENSP00000503824.1:p.His8Gln
ENST00000678282.1:n.24T>G
ENST00000678297.1:c.351T>G	ENSP00000503472.1:p.His117Gln
ENST00000299697.11:c.642T>G	ENSP00000299697.8:p.His214Gln
ENST00000417693.7:c.714T>G	ENSP00000407469.4:p.His238Gln
ENST00000451102.6:c.768T>G	ENSP00000414334.3:p.His256Gln
ENST00000525974.5:c.351T>G	ENSP00000434594.1:p.His117Gln
ENST00000527284.5:c.549T>G	ENSP00000435312.1:p.His183Gln
ENST00000527800.5:c.351T>G	ENSP00000433770.1:p.His117Gln
ENST00000544898.5:c.642T>G	ENSP00000440898.2:p.His214Gln
ENST00000545043.6:c.567T>G	ENSP00000438143.2:p.His189Gln
ENST00000561527.5:n.201T>G
ENST00000561728.1:c.91T>G
ENST00000562552.5:n.458T>G
ENST00000563099.5:n.169T>G
ENST00000563369.6:c.351T>G	ENSP00000463560.1:p.His117Gln
ENST00000563478.5:c.351T>G	ENSP00000462341.1:p.His117Gln
ENST00000564792.1:n.297T>G
ENST00000564917.5:c.693T>G	ENSP00000455187.1:p.His231Gln
ENST00000567357.5:c.*500T>G	ENSP00000457959.1:n.*500T>G
ENST00000569718.5:c.367T>G
ENST00000620035.4:c.588T>G	ENSP00000483833.1:p.His196Gln
NM_001172643.1:c.549T>G	NP_001166114.1:p.His183Gln
NM_001172644.1:c.567T>G	NP_001166115.1:p.His189Gln
NM_001172645.1:c.588T>G	NP_001166116.1:p.His196Gln
NM_001271934.1:c.495T>G	NP_001258863.1:p.His165Gln
NM_001271935.1:c.380T>G	NP_001258864.1:p.Ile127Ser
NM_001272050.1:c.351T>G	NP_001258979.1:p.His117Gln
NM_004614.4:c.642T>G	NP_004605.4:p.His214Gln
NR_073520.1:n.1921T>G
NM_001172644.2:c.567T>G	NP_001166115.1:p.His189Gln
NM_001271934.2:c.495T>G	NP_001258863.1:p.His165Gln
NM_001272050.2:c.351T>G	NP_001258979.1:p.His117Gln
NM_004614.5:c.642T>G MANE Select	NP_004605.4:p.His214Gln
NR_073520.2:n.1631T>G
NM_001172645.2:c.588T>G	NP_001166116.1:p.His196Gln