Canonical Allele Identifier: CA396187109

Gene: TK2

Linked Data

• MyVariant Identifiers: chr16:g.66547659A>G (hg19) ; chr16:g.66513756A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513756A>G , CM000678.2:g.66513756A>G	GRCh38
NC_000016.9:g.66547659A>G , CM000678.1:g.66547659A>G	GRCh37
NC_000016.8:g.65105160A>G	NCBI36
NG_016862.1:g.41657T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.506T>C	ENSP00000299697.9:p.Leu169Pro
ENST00000417693.8:c.620T>C	ENSP00000407469.5:p.Leu207Pro
ENST00000451102.7:c.581T>C	ENSP00000414334.4:p.Leu194Pro
ENST00000527284.6:c.563-1690T>C
ENST00000527800.6:c.383T>C	ENSP00000433770.1:p.Leu128Pro
ENST00000544898.6:c.674T>C MANE Select	ENSP00000440898.2:p.Leu225Pro
ENST00000567357.6:c.*532T>C	ENSP00000457959.2:n.*532T>C
ENST00000569718.6:c.412T>C	ENSP00000464313.2:p.Phe138Leu
ENST00000620035.5:c.430T>C	ENSP00000483833.2:p.Phe144Leu
ENST00000676538.1:c.257T>C
ENST00000676904.1:c.145T>C
ENST00000677296.1:n.56T>C
ENST00000677379.1:c.315T>C	ENSP00000503672.1:n.315T>C
ENST00000677420.1:c.383T>C	ENSP00000504648.1:p.Leu128Pro
ENST00000677555.1:c.383T>C	ENSP00000503331.1:p.Leu128Pro
ENST00000677715.1:c.383T>C	ENSP00000502950.1:p.Leu128Pro
ENST00000677753.1:n.56T>C
ENST00000677961.1:n.86T>C
ENST00000678015.1:c.383T>C	ENSP00000502959.1:p.Leu128Pro
ENST00000678190.1:c.56T>C	ENSP00000503824.1:p.Leu19Pro
ENST00000678282.1:n.56T>C
ENST00000678297.1:c.383T>C	ENSP00000503472.1:p.Leu128Pro
ENST00000299697.11:c.674T>C	ENSP00000299697.8:p.Leu225Pro
ENST00000417693.7:c.746T>C	ENSP00000407469.4:p.Leu249Pro
ENST00000451102.6:c.800T>C	ENSP00000414334.3:p.Leu267Pro
ENST00000525974.5:c.383T>C	ENSP00000434594.1:p.Leu128Pro
ENST00000527284.5:c.581T>C	ENSP00000435312.1:p.Leu194Pro
ENST00000527800.5:c.383T>C	ENSP00000433770.1:p.Leu128Pro
ENST00000544898.5:c.674T>C	ENSP00000440898.2:p.Leu225Pro
ENST00000545043.6:c.599T>C	ENSP00000438143.2:p.Leu200Pro
ENST00000561527.5:n.233T>C
ENST00000561728.1:c.123T>C
ENST00000561905.2:c.28T>C
ENST00000562552.5:n.490T>C
ENST00000563099.5:n.201T>C
ENST00000563369.6:c.383T>C	ENSP00000463560.1:p.Leu128Pro
ENST00000563478.5:c.383T>C	ENSP00000462341.1:p.Leu128Pro
ENST00000564792.1:n.329T>C
ENST00000564917.5:c.725T>C	ENSP00000455187.1:p.Leu242Pro
ENST00000567357.5:c.*532T>C	ENSP00000457959.1:n.*532T>C
ENST00000569718.5:c.399T>C
ENST00000620035.4:c.620T>C	ENSP00000483833.1:p.Leu207Pro
NM_001172643.1:c.581T>C	NP_001166114.1:p.Leu194Pro
NM_001172644.1:c.599T>C	NP_001166115.1:p.Leu200Pro
NM_001172645.1:c.620T>C	NP_001166116.1:p.Leu207Pro
NM_001271934.1:c.527T>C	NP_001258863.1:p.Leu176Pro
NM_001271935.1:c.412T>C	NP_001258864.1:p.Phe138Leu
NM_001272050.1:c.383T>C	NP_001258979.1:p.Leu128Pro
NM_004614.4:c.674T>C	NP_004605.4:p.Leu225Pro
NR_073520.1:n.1953T>C
NM_001172644.2:c.599T>C	NP_001166115.1:p.Leu200Pro
NM_001271934.2:c.527T>C	NP_001258863.1:p.Leu176Pro
NM_001272050.2:c.383T>C	NP_001258979.1:p.Leu128Pro
NM_004614.5:c.674T>C MANE Select	NP_004605.4:p.Leu225Pro
NR_073520.2:n.1663T>C
NM_001172645.2:c.620T>C	NP_001166116.1:p.Leu207Pro