Canonical Allele Identifier: CA396187172

Gene: TK2

Linked Data

• gnomAD v4: 16-66513769-T-C
• MyVariant Identifiers: chr16:g.66547672T>C (hg19) ; chr16:g.66513769T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513769T>C , CM000678.2:g.66513769T>C	GRCh38
NC_000016.9:g.66547672T>C , CM000678.1:g.66547672T>C	GRCh37
NC_000016.8:g.65105173T>C	NCBI36
NG_016862.1:g.41644A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.493A>G	ENSP00000299697.9:p.Ile165Val
ENST00000417693.8:c.607A>G	ENSP00000407469.5:p.Ile203Val
ENST00000451102.7:c.568A>G	ENSP00000414334.4:p.Ile190Val
ENST00000527284.6:c.563-1703A>G
ENST00000527800.6:c.370A>G	ENSP00000433770.1:p.Ile124Val
ENST00000544898.6:c.661A>G MANE Select	ENSP00000440898.2:p.Ile221Val
ENST00000567357.6:c.*519A>G	ENSP00000457959.2:n.*519A>G
ENST00000569718.6:c.399A>G	ENSP00000464313.2:p.Ser133=
ENST00000620035.5:c.417A>G	ENSP00000483833.2:p.Ser139=
ENST00000676538.1:c.244A>G
ENST00000676904.1:c.132A>G
ENST00000677296.1:n.43A>G
ENST00000677379.1:c.302A>G	ENSP00000503672.1:n.302A>G
ENST00000677420.1:c.370A>G	ENSP00000504648.1:p.Ile124Val
ENST00000677555.1:c.370A>G	ENSP00000503331.1:p.Ile124Val
ENST00000677715.1:c.370A>G	ENSP00000502950.1:p.Ile124Val
ENST00000677753.1:n.43A>G
ENST00000677961.1:n.73A>G
ENST00000678015.1:c.370A>G	ENSP00000502959.1:p.Ile124Val
ENST00000678190.1:c.43A>G	ENSP00000503824.1:p.Ile15Val
ENST00000678282.1:n.43A>G
ENST00000678297.1:c.370A>G	ENSP00000503472.1:p.Ile124Val
ENST00000299697.11:c.661A>G	ENSP00000299697.8:p.Ile221Val
ENST00000417693.7:c.733A>G	ENSP00000407469.4:p.Ile245Val
ENST00000451102.6:c.787A>G	ENSP00000414334.3:p.Ile263Val
ENST00000525974.5:c.370A>G	ENSP00000434594.1:p.Ile124Val
ENST00000527284.5:c.568A>G	ENSP00000435312.1:p.Ile190Val
ENST00000527800.5:c.370A>G	ENSP00000433770.1:p.Ile124Val
ENST00000544898.5:c.661A>G	ENSP00000440898.2:p.Ile221Val
ENST00000545043.6:c.586A>G	ENSP00000438143.2:p.Ile196Val
ENST00000561527.5:n.220A>G
ENST00000561728.1:c.110A>G
ENST00000561905.2:c.15A>G
ENST00000562552.5:n.477A>G
ENST00000563099.5:n.188A>G
ENST00000563369.6:c.370A>G	ENSP00000463560.1:p.Ile124Val
ENST00000563478.5:c.370A>G	ENSP00000462341.1:p.Ile124Val
ENST00000564792.1:n.316A>G
ENST00000564917.5:c.712A>G	ENSP00000455187.1:p.Ile238Val
ENST00000567357.5:c.*519A>G	ENSP00000457959.1:n.*519A>G
ENST00000569718.5:c.386A>G
ENST00000620035.4:c.607A>G	ENSP00000483833.1:p.Ile203Val
NM_001172643.1:c.568A>G	NP_001166114.1:p.Ile190Val
NM_001172644.1:c.586A>G	NP_001166115.1:p.Ile196Val
NM_001172645.1:c.607A>G	NP_001166116.1:p.Ile203Val
NM_001271934.1:c.514A>G	NP_001258863.1:p.Ile172Val
NM_001271935.1:c.399A>G	NP_001258864.1:p.Ser133=
NM_001272050.1:c.370A>G	NP_001258979.1:p.Ile124Val
NM_004614.4:c.661A>G	NP_004605.4:p.Ile221Val
NR_073520.1:n.1940A>G
NM_001172644.2:c.586A>G	NP_001166115.1:p.Ile196Val
NM_001271934.2:c.514A>G	NP_001258863.1:p.Ile172Val
NM_001272050.2:c.370A>G	NP_001258979.1:p.Ile124Val
NM_004614.5:c.661A>G MANE Select	NP_004605.4:p.Ile221Val
NR_073520.2:n.1650A>G
NM_001172645.2:c.607A>G	NP_001166116.1:p.Ile203Val