Canonical Allele Identifier: CA8093712

Gene: TK2

Linked Data

• ClinVar Variation Id: 1180625
• ClinVar RCV Id: RCV001814354 ; RCV001882601
• dbSNP Id: rs770318536
• ExAC: 16:66565347 C / T
• gnomAD v2: 16-66565347-C-T
• gnomAD v4: 16-66531444-C-T
• MyVariant Identifiers: chr16:g.66565347C>T (hg19) ; chr16:g.66531444C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66531444C>T , CM000678.2:g.66531444C>T	GRCh38
NC_000016.9:g.66565347C>T , CM000678.1:g.66565347C>T	GRCh37
NC_000016.8:g.65122848C>T	NCBI36
NG_016862.1:g.23969G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299697.12:c.143G>A	ENSP00000299697.9:p.Arg48His
ENST00000417693.8:c.257G>A	ENSP00000407469.5:p.Arg86His
ENST00000451102.7:c.218G>A	ENSP00000414334.4:p.Arg73His
ENST00000527284.6:c.255G>A
ENST00000527800.6:c.20G>A	ENSP00000433770.1:p.Arg7His
ENST00000544898.6:c.311G>A MANE Select	ENSP00000440898.2:p.Arg104His
ENST00000567357.6:c.*169G>A	ENSP00000457959.2:n.*169G>A
ENST00000569718.6:c.218G>A	ENSP00000464313.2:p.Arg73His
ENST00000620035.5:c.236G>A	ENSP00000483833.2:p.Arg79His
ENST00000676538.1:c.33-13567G>A
ENST00000677379.1:c.26G>A	ENSP00000503672.1:p.Arg9His
ENST00000677420.1:c.20G>A	ENSP00000504648.1:p.Arg7His
ENST00000677497.1:n.198G>A
ENST00000677555.1:c.20G>A	ENSP00000503331.1:p.Arg7His
ENST00000677715.1:c.20G>A	ENSP00000502950.1:p.Arg7His
ENST00000677739.1:c.55-2377G>A	ENSP00000504644.1:n.55-2377G>A
ENST00000678015.1:c.20G>A	ENSP00000502959.1:p.Arg7His
ENST00000678297.1:c.20G>A	ENSP00000503472.1:p.Arg7His
ENST00000678314.1:c.20G>A	ENSP00000504438.1:p.Arg7His
ENST00000678746.1:c.201G>A	ENSP00000503227.1:n.201G>A
ENST00000679154.1:c.58G>A
ENST00000299697.11:c.311G>A	ENSP00000299697.8:p.Arg104His
ENST00000417693.7:c.383G>A	ENSP00000407469.4:p.Arg128His
ENST00000451102.6:c.437G>A	ENSP00000414334.3:p.Arg146His
ENST00000525974.5:c.20G>A	ENSP00000434594.1:p.Arg7His
ENST00000527284.5:c.218G>A	ENSP00000435312.1:p.Arg73His
ENST00000527800.5:c.20G>A	ENSP00000433770.1:p.Arg7His
ENST00000544898.5:c.311G>A	ENSP00000440898.2:p.Arg104His
ENST00000545043.6:c.236G>A	ENSP00000438143.2:p.Arg79His
ENST00000562484.2:c.20G>A	ENSP00000463326.1:p.Arg7His
ENST00000563369.6:c.20G>A	ENSP00000463560.1:p.Arg7His
ENST00000563478.5:c.20G>A	ENSP00000462341.1:p.Arg7His
ENST00000564917.5:c.311G>A	ENSP00000455187.1:p.Arg104His
ENST00000567357.5:c.*169G>A	ENSP00000457959.1:n.*169G>A
ENST00000569718.5:c.205G>A
ENST00000620035.4:c.257G>A	ENSP00000483833.1:p.Arg86His
NM_001172643.1:c.218G>A	NP_001166114.1:p.Arg73His
NM_001172644.1:c.236G>A	NP_001166115.1:p.Arg79His
NM_001172645.1:c.257G>A	NP_001166116.1:p.Arg86His
NM_001271934.1:c.164G>A	NP_001258863.1:p.Arg55His
NM_001271935.1:c.218G>A	NP_001258864.1:p.Arg73His
NM_001272050.1:c.20G>A	NP_001258979.1:p.Arg7His
NM_004614.4:c.311G>A	NP_004605.4:p.Arg104His
NR_073520.1:n.1590G>A
NM_001172644.2:c.236G>A	NP_001166115.1:p.Arg79His
NM_001271934.2:c.164G>A	NP_001258863.1:p.Arg55His
NM_001272050.2:c.20G>A	NP_001258979.1:p.Arg7His
NM_004614.5:c.311G>A MANE Select	NP_004605.4:p.Arg104His
NR_073520.2:n.1300G>A
NM_001172645.2:c.257G>A	NP_001166116.1:p.Arg86His