Canonical Allele Identifier: CA396187186

Gene: TK2

Linked Data

• MyVariant Identifiers: chr16:g.66547675G>A (hg19) ; chr16:g.66513772G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513772G>A , CM000678.2:g.66513772G>A	GRCh38
NC_000016.9:g.66547675G>A , CM000678.1:g.66547675G>A	GRCh37
NC_000016.8:g.65105176G>A	NCBI36
NG_016862.1:g.41641C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.490C>T	ENSP00000299697.9:p.Leu164Phe
ENST00000417693.8:c.604C>T	ENSP00000407469.5:p.Leu202Phe
ENST00000451102.7:c.565C>T	ENSP00000414334.4:p.Leu189Phe
ENST00000527284.6:c.563-1706C>T
ENST00000527800.6:c.367C>T	ENSP00000433770.1:p.Leu123Phe
ENST00000544898.6:c.658C>T MANE Select	ENSP00000440898.2:p.Leu220Phe
ENST00000567357.6:c.*516C>T	ENSP00000457959.2:n.*516C>T
ENST00000569718.6:c.396C>T	ENSP00000464313.2:p.Gly132=
ENST00000620035.5:c.414C>T	ENSP00000483833.2:p.Gly138=
ENST00000676538.1:c.241C>T
ENST00000676904.1:c.129C>T
ENST00000677296.1:n.40C>T
ENST00000677379.1:c.299C>T	ENSP00000503672.1:n.299C>T
ENST00000677420.1:c.367C>T	ENSP00000504648.1:p.Leu123Phe
ENST00000677555.1:c.367C>T	ENSP00000503331.1:p.Leu123Phe
ENST00000677715.1:c.367C>T	ENSP00000502950.1:p.Leu123Phe
ENST00000677753.1:n.40C>T
ENST00000677961.1:n.70C>T
ENST00000678015.1:c.367C>T	ENSP00000502959.1:p.Leu123Phe
ENST00000678190.1:c.40C>T	ENSP00000503824.1:p.Leu14Phe
ENST00000678282.1:n.40C>T
ENST00000678297.1:c.367C>T	ENSP00000503472.1:p.Leu123Phe
ENST00000299697.11:c.658C>T	ENSP00000299697.8:p.Leu220Phe
ENST00000417693.7:c.730C>T	ENSP00000407469.4:p.Leu244Phe
ENST00000451102.6:c.784C>T	ENSP00000414334.3:p.Leu262Phe
ENST00000525974.5:c.367C>T	ENSP00000434594.1:p.Leu123Phe
ENST00000527284.5:c.565C>T	ENSP00000435312.1:p.Leu189Phe
ENST00000527800.5:c.367C>T	ENSP00000433770.1:p.Leu123Phe
ENST00000544898.5:c.658C>T	ENSP00000440898.2:p.Leu220Phe
ENST00000545043.6:c.583C>T	ENSP00000438143.2:p.Leu195Phe
ENST00000561527.5:n.217C>T
ENST00000561728.1:c.107C>T
ENST00000561905.2:c.12C>T
ENST00000562552.5:n.474C>T
ENST00000563099.5:n.185C>T
ENST00000563369.6:c.367C>T	ENSP00000463560.1:p.Leu123Phe
ENST00000563478.5:c.367C>T	ENSP00000462341.1:p.Leu123Phe
ENST00000564792.1:n.313C>T
ENST00000564917.5:c.709C>T	ENSP00000455187.1:p.Leu237Phe
ENST00000567357.5:c.*516C>T	ENSP00000457959.1:n.*516C>T
ENST00000569718.5:c.383C>T
ENST00000620035.4:c.604C>T	ENSP00000483833.1:p.Leu202Phe
NM_001172643.1:c.565C>T	NP_001166114.1:p.Leu189Phe
NM_001172644.1:c.583C>T	NP_001166115.1:p.Leu195Phe
NM_001172645.1:c.604C>T	NP_001166116.1:p.Leu202Phe
NM_001271934.1:c.511C>T	NP_001258863.1:p.Leu171Phe
NM_001271935.1:c.396C>T	NP_001258864.1:p.Gly132=
NM_001272050.1:c.367C>T	NP_001258979.1:p.Leu123Phe
NM_004614.4:c.658C>T	NP_004605.4:p.Leu220Phe
NR_073520.1:n.1937C>T
NM_001172644.2:c.583C>T	NP_001166115.1:p.Leu195Phe
NM_001271934.2:c.511C>T	NP_001258863.1:p.Leu171Phe
NM_001272050.2:c.367C>T	NP_001258979.1:p.Leu123Phe
NM_004614.5:c.658C>T MANE Select	NP_004605.4:p.Leu220Phe
NR_073520.2:n.1647C>T
NM_001172645.2:c.604C>T	NP_001166116.1:p.Leu202Phe