Canonical Allele Identifier: CA396187036

Gene: TK2

Linked Data

• MyVariant Identifiers: chr16:g.66547639C>A (hg19) ; chr16:g.66513736C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513736C>A , CM000678.2:g.66513736C>A	GRCh38
NC_000016.9:g.66547639C>A , CM000678.1:g.66547639C>A	GRCh37
NC_000016.8:g.65105140C>A	NCBI36
NG_016862.1:g.41677G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.526G>T	ENSP00000299697.9:p.Val176Phe
ENST00000417693.8:c.640G>T	ENSP00000407469.5:p.Val214Phe
ENST00000451102.7:c.601G>T	ENSP00000414334.4:p.Val201Phe
ENST00000527284.6:c.563-1670G>T
ENST00000527800.6:c.403G>T	ENSP00000433770.1:p.Val135Phe
ENST00000544898.6:c.694G>T MANE Select	ENSP00000440898.2:p.Val232Phe
ENST00000567357.6:c.*552G>T	ENSP00000457959.2:n.*552G>T
ENST00000569718.6:c.432G>T	ENSP00000464313.2:p.Leu144=
ENST00000620035.5:c.450G>T	ENSP00000483833.2:p.Leu150=
ENST00000676538.1:c.277G>T
ENST00000676904.1:c.165G>T
ENST00000677296.1:n.76G>T
ENST00000677379.1:c.335G>T	ENSP00000503672.1:n.335G>T
ENST00000677420.1:c.403G>T	ENSP00000504648.1:p.Val135Phe
ENST00000677555.1:c.403G>T	ENSP00000503331.1:p.Val135Phe
ENST00000677715.1:c.403G>T	ENSP00000502950.1:p.Val135Phe
ENST00000677753.1:n.76G>T
ENST00000677961.1:n.106G>T
ENST00000678015.1:c.403G>T	ENSP00000502959.1:p.Val135Phe
ENST00000678190.1:c.76G>T	ENSP00000503824.1:p.Val26Phe
ENST00000678282.1:n.76G>T
ENST00000678297.1:c.403G>T	ENSP00000503472.1:p.Val135Phe
ENST00000299697.11:c.694G>T	ENSP00000299697.8:p.Val232Phe
ENST00000417693.7:c.766G>T	ENSP00000407469.4:p.Val256Phe
ENST00000451102.6:c.820G>T	ENSP00000414334.3:p.Val274Phe
ENST00000525974.5:c.403G>T	ENSP00000434594.1:p.Val135Phe
ENST00000527284.5:c.601G>T	ENSP00000435312.1:p.Val201Phe
ENST00000527800.5:c.403G>T	ENSP00000433770.1:p.Val135Phe
ENST00000544898.5:c.694G>T	ENSP00000440898.2:p.Val232Phe
ENST00000545043.6:c.619G>T	ENSP00000438143.2:p.Val207Phe
ENST00000561527.5:n.253G>T
ENST00000561728.1:c.143G>T
ENST00000561905.2:c.48G>T
ENST00000562552.5:n.510G>T
ENST00000563099.5:n.221G>T
ENST00000563369.6:c.403G>T	ENSP00000463560.1:p.Val135Phe
ENST00000564792.1:n.349G>T
ENST00000564917.5:c.745G>T	ENSP00000455187.1:p.Val249Phe
ENST00000567357.5:c.*552G>T	ENSP00000457959.1:n.*552G>T
ENST00000569718.5:c.419G>T
ENST00000620035.4:c.640G>T	ENSP00000483833.1:p.Val214Phe
NM_001172643.1:c.601G>T	NP_001166114.1:p.Val201Phe
NM_001172644.1:c.619G>T	NP_001166115.1:p.Val207Phe
NM_001172645.1:c.640G>T	NP_001166116.1:p.Val214Phe
NM_001271934.1:c.547G>T	NP_001258863.1:p.Val183Phe
NM_001271935.1:c.432G>T	NP_001258864.1:p.Leu144=
NM_001272050.1:c.403G>T	NP_001258979.1:p.Val135Phe
NM_004614.4:c.694G>T	NP_004605.4:p.Val232Phe
NR_073520.1:n.1973G>T
NM_001172644.2:c.619G>T	NP_001166115.1:p.Val207Phe
NM_001271934.2:c.547G>T	NP_001258863.1:p.Val183Phe
NM_001272050.2:c.403G>T	NP_001258979.1:p.Val135Phe
NM_004614.5:c.694G>T MANE Select	NP_004605.4:p.Val232Phe
NR_073520.2:n.1683G>T
NM_001172645.2:c.640G>T	NP_001166116.1:p.Val214Phe