Canonical Allele Identifier: CA396187039

Gene: TK2

Linked Data

• ClinVar Variation Id: 1686261
• ClinVar RCV Id: RCV002246774
• dbSNP Id: rs2144339570
• MyVariant Identifiers: chr16:g.66547641G>A (hg19) ; chr16:g.66513738G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513738G>A , CM000678.2:g.66513738G>A	GRCh38
NC_000016.9:g.66547641G>A , CM000678.1:g.66547641G>A	GRCh37
NC_000016.8:g.65105142G>A	NCBI36
NG_016862.1:g.41675C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.524C>T	ENSP00000299697.9:p.Pro175Leu
ENST00000417693.8:c.638C>T	ENSP00000407469.5:p.Pro213Leu
ENST00000451102.7:c.599C>T	ENSP00000414334.4:p.Pro200Leu
ENST00000527284.6:c.563-1672C>T
ENST00000527800.6:c.401C>T	ENSP00000433770.1:p.Pro134Leu
ENST00000544898.6:c.692C>T MANE Select	ENSP00000440898.2:p.Pro231Leu
ENST00000567357.6:c.*550C>T	ENSP00000457959.2:n.*550C>T
ENST00000569718.6:c.430C>T	ENSP00000464313.2:p.Leu144=
ENST00000620035.5:c.448C>T	ENSP00000483833.2:p.Leu150=
ENST00000676538.1:c.275C>T
ENST00000676904.1:c.163C>T
ENST00000677296.1:n.74C>T
ENST00000677379.1:c.333C>T	ENSP00000503672.1:n.333C>T
ENST00000677420.1:c.401C>T	ENSP00000504648.1:p.Pro134Leu
ENST00000677555.1:c.401C>T	ENSP00000503331.1:p.Pro134Leu
ENST00000677715.1:c.401C>T	ENSP00000502950.1:p.Pro134Leu
ENST00000677753.1:n.74C>T
ENST00000677961.1:n.104C>T
ENST00000678015.1:c.401C>T	ENSP00000502959.1:p.Pro134Leu
ENST00000678190.1:c.74C>T	ENSP00000503824.1:p.Pro25Leu
ENST00000678282.1:n.74C>T
ENST00000678297.1:c.401C>T	ENSP00000503472.1:p.Pro134Leu
ENST00000299697.11:c.692C>T	ENSP00000299697.8:p.Pro231Leu
ENST00000417693.7:c.764C>T	ENSP00000407469.4:p.Pro255Leu
ENST00000451102.6:c.818C>T	ENSP00000414334.3:p.Pro273Leu
ENST00000525974.5:c.401C>T	ENSP00000434594.1:p.Pro134Leu
ENST00000527284.5:c.599C>T	ENSP00000435312.1:p.Pro200Leu
ENST00000527800.5:c.401C>T	ENSP00000433770.1:p.Pro134Leu
ENST00000544898.5:c.692C>T	ENSP00000440898.2:p.Pro231Leu
ENST00000545043.6:c.617C>T	ENSP00000438143.2:p.Pro206Leu
ENST00000561527.5:n.251C>T
ENST00000561728.1:c.141C>T
ENST00000561905.2:c.46C>T
ENST00000562552.5:n.508C>T
ENST00000563099.5:n.219C>T
ENST00000563369.6:c.401C>T	ENSP00000463560.1:p.Pro134Leu
ENST00000564792.1:n.347C>T
ENST00000564917.5:c.743C>T	ENSP00000455187.1:p.Pro248Leu
ENST00000567357.5:c.*550C>T	ENSP00000457959.1:n.*550C>T
ENST00000569718.5:c.417C>T
ENST00000620035.4:c.638C>T	ENSP00000483833.1:p.Pro213Leu
NM_001172643.1:c.599C>T	NP_001166114.1:p.Pro200Leu
NM_001172644.1:c.617C>T	NP_001166115.1:p.Pro206Leu
NM_001172645.1:c.638C>T	NP_001166116.1:p.Pro213Leu
NM_001271934.1:c.545C>T	NP_001258863.1:p.Pro182Leu
NM_001271935.1:c.430C>T	NP_001258864.1:p.Leu144=
NM_001272050.1:c.401C>T	NP_001258979.1:p.Pro134Leu
NM_004614.4:c.692C>T	NP_004605.4:p.Pro231Leu
NR_073520.1:n.1971C>T
NM_001172644.2:c.617C>T	NP_001166115.1:p.Pro206Leu
NM_001271934.2:c.545C>T	NP_001258863.1:p.Pro182Leu
NM_001272050.2:c.401C>T	NP_001258979.1:p.Pro134Leu
NM_004614.5:c.692C>T MANE Select	NP_004605.4:p.Pro231Leu
NR_073520.2:n.1681C>T
NM_001172645.2:c.638C>T	NP_001166116.1:p.Pro213Leu