Canonical Allele Identifier: CA291321

Gene: TK2

Linked Data

• ClinVar Variation Id: 137667
• ClinVar RCV Id: RCV000125524 ; RCV000373460 ; RCV002055578
• dbSNP Id: rs117229729
• ExAC: 16:66575868 C / T
• gnomAD v2: 16-66575868-C-T
• gnomAD v3: 16-66541965-C-T
• gnomAD v4: 16-66541965-C-T
• MyVariant Identifiers: chr16:g.66575868C>T (hg19) ; chr16:g.66541965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66541965C>T , CM000678.2:g.66541965C>T	GRCh38
NC_000016.9:g.66575868C>T , CM000678.1:g.66575868C>T	GRCh37
NC_000016.8:g.65133369C>T	NCBI36
NG_016862.1:g.13448G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.64-4948G>A	ENSP00000299697.9:n.64-4948G>A
ENST00000417693.8:c.157-12G>A	ENSP00000407469.5:n.157-12G>A
ENST00000451102.7:c.64-12G>A	ENSP00000414334.4:n.64-12G>A
ENST00000527284.6:c.101-12G>A
ENST00000527800.6:c.-135-12G>A	ENSP00000433770.1:n.-135-12G>A
ENST00000544898.6:c.157-12G>A MANE Select	ENSP00000440898.2:n.157-12G>A
ENST00000567357.6:c.*15-12G>A	ENSP00000457959.2:n.*15-12G>A
ENST00000569718.6:c.64-12G>A	ENSP00000464313.2:n.64-12G>A
ENST00000620035.5:c.157-4948G>A	ENSP00000483833.2:n.157-4948G>A
ENST00000676536.1:c.113-12G>A
ENST00000676538.1:c.32+7013G>A
ENST00000677412.1:c.108-12G>A
ENST00000677420.1:c.-81-12G>A	ENSP00000504648.1:n.-81-12G>A
ENST00000677541.1:c.150-12G>A
ENST00000677555.1:c.-60-4948G>A	ENSP00000503331.1:n.-60-4948G>A
ENST00000677715.1:c.-135-12G>A	ENSP00000502950.1:n.-135-12G>A
ENST00000678015.1:c.-135-12G>A	ENSP00000502959.1:n.-135-12G>A
ENST00000678205.1:c.170-12G>A
ENST00000678297.1:c.-60-4948G>A	ENSP00000503472.1:n.-60-4948G>A
ENST00000678314.1:c.-60-4948G>A	ENSP00000504438.1:n.-60-4948G>A
ENST00000678336.1:n.144-12G>A
ENST00000678864.1:n.96-4948G>A
ENST00000679154.1:c.32+7013G>A
ENST00000679327.1:n.1128-12G>A
ENST00000299697.11:c.157-12G>A	ENSP00000299697.8:n.157-12G>A
ENST00000417693.7:c.283-12G>A	ENSP00000407469.4:n.283-12G>A
ENST00000451102.6:c.283-12G>A	ENSP00000414334.3:n.283-12G>A
ENST00000525974.5:c.-135-12G>A	ENSP00000434594.1:n.-135-12G>A
ENST00000527284.5:c.64-12G>A	ENSP00000435312.1:n.64-12G>A
ENST00000527800.5:c.-135-12G>A	ENSP00000433770.1:n.-135-12G>A
ENST00000544898.5:c.157-12G>A	ENSP00000440898.2:n.157-12G>A
ENST00000545043.6:c.157-4948G>A	ENSP00000438143.2:n.157-4948G>A
ENST00000562484.2:c.-135-12G>A	ENSP00000463326.1:n.-135-12G>A
ENST00000563369.6:c.-135-12G>A	ENSP00000463560.1:n.-135-12G>A
ENST00000563478.5:c.-135-12G>A	ENSP00000462341.1:n.-135-12G>A
ENST00000564917.5:c.157-12G>A	ENSP00000455187.1:n.157-12G>A
ENST00000567357.5:c.*15-12G>A	ENSP00000457959.1:n.*15-12G>A
ENST00000569718.5:c.51-12G>A
ENST00000620035.4:c.157-12G>A	ENSP00000483833.1:n.157-12G>A
NM_001172643.1:c.64-12G>A	NP_001166114.1:n.64-12G>A
NM_001172644.1:c.157-4948G>A	NP_001166115.1:n.157-4948G>A
NM_001172645.1:c.157-12G>A	NP_001166116.1:n.157-12G>A
NM_001271934.1:c.10-12G>A	NP_001258863.1:n.10-12G>A
NM_001271935.1:c.64-12G>A	NP_001258864.1:n.64-12G>A
NM_001272050.1:c.-135-12G>A	NP_001258979.1:n.-135-12G>A
NM_004614.4:c.157-12G>A	NP_004605.4:n.157-12G>A
NR_073520.1:n.1436-12G>A
NM_001172644.2:c.157-4948G>A	NP_001166115.1:n.157-4948G>A
NM_001271934.2:c.10-12G>A	NP_001258863.1:n.10-12G>A
NM_001272050.2:c.-135-12G>A	NP_001258979.1:n.-135-12G>A
NM_004614.5:c.157-12G>A MANE Select	NP_004605.4:n.157-12G>A
NR_073520.2:n.1146-12G>A
NM_001172645.2:c.157-12G>A	NP_001166116.1:n.157-12G>A