Canonical Allele Identifier: CA8093651

Gene: TK2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66517807C>G , CM000678.2:g.66517807C>G	GRCh38
NC_000016.9:g.66551710C>G , CM000678.1:g.66551710C>G	GRCh37
NC_000016.8:g.65109211C>G	NCBI36
NG_016862.1:g.37606G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.352G>C	ENSP00000299697.9:p.Val118Leu
ENST00000417693.8:c.466G>C	ENSP00000407469.5:p.Val156Leu
ENST00000451102.7:c.427G>C	ENSP00000414334.4:p.Val143Leu
ENST00000527284.6:c.464G>C
ENST00000527800.6:c.229G>C	ENSP00000433770.1:p.Val77Leu
ENST00000544898.6:c.520G>C MANE Select	ENSP00000440898.2:p.Val174Leu
ENST00000567357.6:c.*378G>C	ENSP00000457959.2:n.*378G>C
ENST00000569718.6:c.357-3996G>C	ENSP00000464313.2:n.357-3996G>C
ENST00000620035.5:c.375-3996G>C	ENSP00000483833.2:n.375-3996G>C
ENST00000676538.1:c.103G>C
ENST00000676718.1:n.101G>C
ENST00000676904.1:c.71G>C
ENST00000677379.1:c.161G>C	ENSP00000503672.1:n.161G>C
ENST00000677420.1:c.229G>C	ENSP00000504648.1:p.Val77Leu
ENST00000677555.1:c.229G>C	ENSP00000503331.1:p.Val77Leu
ENST00000677715.1:c.229G>C	ENSP00000502950.1:p.Val77Leu
ENST00000678015.1:c.229G>C	ENSP00000502959.1:p.Val77Leu
ENST00000678297.1:c.229G>C	ENSP00000503472.1:p.Val77Leu
ENST00000678314.1:c.229G>C	ENSP00000504438.1:p.Val77Leu
ENST00000679306.1:n.101G>C
ENST00000299697.11:c.520G>C	ENSP00000299697.8:p.Val174Leu
ENST00000417693.7:c.592G>C	ENSP00000407469.4:p.Val198Leu
ENST00000451102.6:c.646G>C	ENSP00000414334.3:p.Val216Leu
ENST00000525974.5:c.229G>C	ENSP00000434594.1:p.Val77Leu
ENST00000527284.5:c.427G>C	ENSP00000435312.1:p.Val143Leu
ENST00000527800.5:c.229G>C	ENSP00000433770.1:p.Val77Leu
ENST00000544898.5:c.520G>C	ENSP00000440898.2:p.Val174Leu
ENST00000545043.6:c.445G>C	ENSP00000438143.2:p.Val149Leu
ENST00000562484.2:c.229G>C	ENSP00000463326.1:p.Val77Leu
ENST00000562552.5:n.336G>C
ENST00000563369.6:c.229G>C	ENSP00000463560.1:p.Val77Leu
ENST00000563478.5:c.229G>C	ENSP00000462341.1:p.Val77Leu
ENST00000564792.1:n.175G>C
ENST00000564917.5:c.520G>C	ENSP00000455187.1:p.Val174Leu
ENST00000567357.5:c.*378G>C	ENSP00000457959.1:n.*378G>C
ENST00000569718.5:c.344-3996G>C
ENST00000620035.4:c.466G>C	ENSP00000483833.1:p.Val156Leu
NM_001172643.1:c.427G>C	NP_001166114.1:p.Val143Leu
NM_001172644.1:c.445G>C	NP_001166115.1:p.Val149Leu
NM_001172645.1:c.466G>C	NP_001166116.1:p.Val156Leu
NM_001271934.1:c.373G>C	NP_001258863.1:p.Val125Leu
NM_001271935.1:c.357-3996G>C	NP_001258864.1:n.357-3996G>C
NM_001272050.1:c.229G>C	NP_001258979.1:p.Val77Leu
NM_004614.4:c.520G>C	NP_004605.4:p.Val174Leu
NR_073520.1:n.1799G>C
NM_001172644.2:c.445G>C	NP_001166115.1:p.Val149Leu
NM_001271934.2:c.373G>C	NP_001258863.1:p.Val125Leu
NM_001272050.2:c.229G>C	NP_001258979.1:p.Val77Leu
NM_004614.5:c.520G>C MANE Select	NP_004605.4:p.Val174Leu
NR_073520.2:n.1509G>C
NM_001172645.2:c.466G>C	NP_001166116.1:p.Val156Leu