Canonical Allele Identifier: CA282177615

Gene: TK2

Linked Data

• ClinVar Variation Id: 450835
• ClinVar RCV Id: RCV001249199
• dbSNP Id: rs921593414
• gnomAD v2: 16-66551733-T-A
• gnomAD v3: 16-66517830-T-A
• gnomAD v4: 16-66517830-T-A
• MyVariant Identifiers: chr16:g.66551733T>A (hg19) ; chr16:g.66517830T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66517830T>A , CM000678.2:g.66517830T>A	GRCh38
NC_000016.9:g.66551733T>A , CM000678.1:g.66551733T>A	GRCh37
NC_000016.8:g.65109234T>A	NCBI36
NG_016862.1:g.37583A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299697.12:c.329A>T	ENSP00000299697.9:p.Asp110Val
ENST00000417693.8:c.443A>T	ENSP00000407469.5:p.Asp148Val
ENST00000451102.7:c.404A>T	ENSP00000414334.4:p.Asp135Val
ENST00000527284.6:c.441A>T
ENST00000527800.6:c.206A>T	ENSP00000433770.1:p.Asp69Val
ENST00000544898.6:c.497A>T MANE Select	ENSP00000440898.2:p.Asp166Val
ENST00000567357.6:c.*355A>T	ENSP00000457959.2:n.*355A>T
ENST00000569718.6:c.357-4019A>T	ENSP00000464313.2:n.357-4019A>T
ENST00000620035.5:c.375-4019A>T	ENSP00000483833.2:n.375-4019A>T
ENST00000676538.1:c.80A>T
ENST00000676718.1:n.78A>T
ENST00000676904.1:c.48A>T
ENST00000677379.1:c.138A>T	ENSP00000503672.1:p.Ter46Cys
ENST00000677420.1:c.206A>T	ENSP00000504648.1:p.Asp69Val
ENST00000677555.1:c.206A>T	ENSP00000503331.1:p.Asp69Val
ENST00000677715.1:c.206A>T	ENSP00000502950.1:p.Asp69Val
ENST00000678015.1:c.206A>T	ENSP00000502959.1:p.Asp69Val
ENST00000678297.1:c.206A>T	ENSP00000503472.1:p.Asp69Val
ENST00000678314.1:c.206A>T	ENSP00000504438.1:p.Asp69Val
ENST00000679306.1:n.78A>T
ENST00000299697.11:c.497A>T	ENSP00000299697.8:p.Asp166Val
ENST00000417693.7:c.569A>T	ENSP00000407469.4:p.Asp190Val
ENST00000451102.6:c.623A>T	ENSP00000414334.3:p.Asp208Val
ENST00000525974.5:c.206A>T	ENSP00000434594.1:p.Asp69Val
ENST00000527284.5:c.404A>T	ENSP00000435312.1:p.Asp135Val
ENST00000527800.5:c.206A>T	ENSP00000433770.1:p.Asp69Val
ENST00000544898.5:c.497A>T	ENSP00000440898.2:p.Asp166Val
ENST00000545043.6:c.422A>T	ENSP00000438143.2:p.Asp141Val
ENST00000562484.2:c.206A>T	ENSP00000463326.1:p.Asp69Val
ENST00000562552.5:n.313A>T
ENST00000563369.6:c.206A>T	ENSP00000463560.1:p.Asp69Val
ENST00000563478.5:c.206A>T	ENSP00000462341.1:p.Asp69Val
ENST00000564792.1:n.152A>T
ENST00000564917.5:c.497A>T	ENSP00000455187.1:p.Asp166Val
ENST00000567357.5:c.*355A>T	ENSP00000457959.1:n.*355A>T
ENST00000569718.5:c.344-4019A>T
ENST00000620035.4:c.443A>T	ENSP00000483833.1:p.Asp148Val
NM_001172643.1:c.404A>T	NP_001166114.1:p.Asp135Val
NM_001172644.1:c.422A>T	NP_001166115.1:p.Asp141Val
NM_001172645.1:c.443A>T	NP_001166116.1:p.Asp148Val
NM_001271934.1:c.350A>T	NP_001258863.1:p.Asp117Val
NM_001271935.1:c.357-4019A>T	NP_001258864.1:n.357-4019A>T
NM_001272050.1:c.206A>T	NP_001258979.1:p.Asp69Val
NM_004614.4:c.497A>T	NP_004605.4:p.Asp166Val
NR_073520.1:n.1776A>T
NM_001172644.2:c.422A>T	NP_001166115.1:p.Asp141Val
NM_001271934.2:c.350A>T	NP_001258863.1:p.Asp117Val
NM_001272050.2:c.206A>T	NP_001258979.1:p.Asp69Val
NM_004614.5:c.497A>T MANE Select	NP_004605.4:p.Asp166Val
NR_073520.2:n.1486A>T
NM_001172645.2:c.443A>T	NP_001166116.1:p.Asp148Val