Canonical Allele Identifier: CA396187045

Gene: TK2

Linked Data

• ClinVar Variation Id: 1946344
• ClinVar RCV Id: RCV002658837
• dbSNP Id: rs377466522
• MyVariant Identifiers: chr16:g.66547642G>A (hg19) ; chr16:g.66513739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513739G>A , CM000678.2:g.66513739G>A	GRCh38
NC_000016.9:g.66547642G>A , CM000678.1:g.66547642G>A	GRCh37
NC_000016.8:g.65105143G>A	NCBI36
NG_016862.1:g.41674C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.523C>T	ENSP00000299697.9:p.Pro175Ser
ENST00000417693.8:c.637C>T	ENSP00000407469.5:p.Pro213Ser
ENST00000451102.7:c.598C>T	ENSP00000414334.4:p.Pro200Ser
ENST00000527284.6:c.563-1673C>T
ENST00000527800.6:c.400C>T	ENSP00000433770.1:p.Pro134Ser
ENST00000544898.6:c.691C>T MANE Select	ENSP00000440898.2:p.Pro231Ser
ENST00000567357.6:c.*549C>T	ENSP00000457959.2:n.*549C>T
ENST00000569718.6:c.429C>T	ENSP00000464313.2:p.Pro143=
ENST00000620035.5:c.447C>T	ENSP00000483833.2:p.Pro149=
ENST00000676538.1:c.274C>T
ENST00000676904.1:c.162C>T
ENST00000677296.1:n.73C>T
ENST00000677379.1:c.332C>T	ENSP00000503672.1:n.332C>T
ENST00000677420.1:c.400C>T	ENSP00000504648.1:p.Pro134Ser
ENST00000677555.1:c.400C>T	ENSP00000503331.1:p.Pro134Ser
ENST00000677715.1:c.400C>T	ENSP00000502950.1:p.Pro134Ser
ENST00000677753.1:n.73C>T
ENST00000677961.1:n.103C>T
ENST00000678015.1:c.400C>T	ENSP00000502959.1:p.Pro134Ser
ENST00000678190.1:c.73C>T	ENSP00000503824.1:p.Pro25Ser
ENST00000678282.1:n.73C>T
ENST00000678297.1:c.400C>T	ENSP00000503472.1:p.Pro134Ser
ENST00000299697.11:c.691C>T	ENSP00000299697.8:p.Pro231Ser
ENST00000417693.7:c.763C>T	ENSP00000407469.4:p.Pro255Ser
ENST00000451102.6:c.817C>T	ENSP00000414334.3:p.Pro273Ser
ENST00000525974.5:c.400C>T	ENSP00000434594.1:p.Pro134Ser
ENST00000527284.5:c.598C>T	ENSP00000435312.1:p.Pro200Ser
ENST00000527800.5:c.400C>T	ENSP00000433770.1:p.Pro134Ser
ENST00000544898.5:c.691C>T	ENSP00000440898.2:p.Pro231Ser
ENST00000545043.6:c.616C>T	ENSP00000438143.2:p.Pro206Ser
ENST00000561527.5:n.250C>T
ENST00000561728.1:c.140C>T
ENST00000561905.2:c.45C>T
ENST00000562552.5:n.507C>T
ENST00000563099.5:n.218C>T
ENST00000563369.6:c.400C>T	ENSP00000463560.1:p.Pro134Ser
ENST00000564792.1:n.346C>T
ENST00000564917.5:c.742C>T	ENSP00000455187.1:p.Pro248Ser
ENST00000567357.5:c.*549C>T	ENSP00000457959.1:n.*549C>T
ENST00000569718.5:c.416C>T
ENST00000620035.4:c.637C>T	ENSP00000483833.1:p.Pro213Ser
NM_001172643.1:c.598C>T	NP_001166114.1:p.Pro200Ser
NM_001172644.1:c.616C>T	NP_001166115.1:p.Pro206Ser
NM_001172645.1:c.637C>T	NP_001166116.1:p.Pro213Ser
NM_001271934.1:c.544C>T	NP_001258863.1:p.Pro182Ser
NM_001271935.1:c.429C>T	NP_001258864.1:p.Pro143=
NM_001272050.1:c.400C>T	NP_001258979.1:p.Pro134Ser
NM_004614.4:c.691C>T	NP_004605.4:p.Pro231Ser
NR_073520.1:n.1970C>T
NM_001172644.2:c.616C>T	NP_001166115.1:p.Pro206Ser
NM_001271934.2:c.544C>T	NP_001258863.1:p.Pro182Ser
NM_001272050.2:c.400C>T	NP_001258979.1:p.Pro134Ser
NM_004614.5:c.691C>T MANE Select	NP_004605.4:p.Pro231Ser
NR_073520.2:n.1680C>T
NM_001172645.2:c.637C>T	NP_001166116.1:p.Pro213Ser