Canonical Allele Identifier: CA396187264
Gene: TK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66513787G>T , CM000678.2:g.66513787G>T GRCh38
NC_000016.9:g.66547690G>T , CM000678.1:g.66547690G>T GRCh37
NC_000016.8:g.65105191G>T NCBI36
NG_016862.1:g.41626C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299697.12:c.475C>A ENSP00000299697.9:p.Leu159Ile
ENST00000417693.8:c.589C>A ENSP00000407469.5:p.Leu197Ile
ENST00000451102.7:c.550C>A ENSP00000414334.4:p.Leu184Ile
ENST00000527284.6:c.563-1721C>A
ENST00000527800.6:c.352C>A ENSP00000433770.1:p.Leu118Ile
ENST00000544898.6:c.643C>A MANE Select ENSP00000440898.2:p.Leu215Ile
ENST00000567357.6:c.*501C>A ENSP00000457959.2:n.*501C>A
ENST00000569718.6:c.381C>A ENSP00000464313.2:p.Ile127=
ENST00000620035.5:c.399C>A ENSP00000483833.2:p.Ile133=
ENST00000676538.1:c.226C>A
ENST00000676904.1:c.114C>A
ENST00000677296.1:n.25C>A
ENST00000677379.1:c.284C>A ENSP00000503672.1:n.284C>A
ENST00000677420.1:c.352C>A ENSP00000504648.1:p.Leu118Ile
ENST00000677555.1:c.352C>A ENSP00000503331.1:p.Leu118Ile
ENST00000677715.1:c.352C>A ENSP00000502950.1:p.Leu118Ile
ENST00000677753.1:n.25C>A
ENST00000677961.1:n.55C>A
ENST00000678015.1:c.352C>A ENSP00000502959.1:p.Leu118Ile
ENST00000678190.1:c.25C>A ENSP00000503824.1:p.Leu9Ile
ENST00000678282.1:n.25C>A
ENST00000678297.1:c.352C>A ENSP00000503472.1:p.Leu118Ile
ENST00000299697.11:c.643C>A ENSP00000299697.8:p.Leu215Ile
ENST00000417693.7:c.715C>A ENSP00000407469.4:p.Leu239Ile
ENST00000451102.6:c.769C>A ENSP00000414334.3:p.Leu257Ile
ENST00000525974.5:c.352C>A ENSP00000434594.1:p.Leu118Ile
ENST00000527284.5:c.550C>A ENSP00000435312.1:p.Leu184Ile
ENST00000527800.5:c.352C>A ENSP00000433770.1:p.Leu118Ile
ENST00000544898.5:c.643C>A ENSP00000440898.2:p.Leu215Ile
ENST00000545043.6:c.568C>A ENSP00000438143.2:p.Leu190Ile
ENST00000561527.5:n.202C>A
ENST00000561728.1:c.92C>A
ENST00000562552.5:n.459C>A
ENST00000563099.5:n.170C>A
ENST00000563369.6:c.352C>A ENSP00000463560.1:p.Leu118Ile
ENST00000563478.5:c.352C>A ENSP00000462341.1:p.Leu118Ile
ENST00000564792.1:n.298C>A
ENST00000564917.5:c.694C>A ENSP00000455187.1:p.Leu232Ile
ENST00000567357.5:c.*501C>A ENSP00000457959.1:n.*501C>A
ENST00000569718.5:c.368C>A
ENST00000620035.4:c.589C>A ENSP00000483833.1:p.Leu197Ile
NM_001172643.1:c.550C>A NP_001166114.1:p.Leu184Ile
NM_001172644.1:c.568C>A NP_001166115.1:p.Leu190Ile
NM_001172645.1:c.589C>A NP_001166116.1:p.Leu197Ile
NM_001271934.1:c.496C>A NP_001258863.1:p.Leu166Ile
NM_001271935.1:c.381C>A NP_001258864.1:p.Ile127=
NM_001272050.1:c.352C>A NP_001258979.1:p.Leu118Ile
NM_004614.4:c.643C>A NP_004605.4:p.Leu215Ile
NR_073520.1:n.1922C>A
NM_001172644.2:c.568C>A NP_001166115.1:p.Leu190Ile
NM_001271934.2:c.496C>A NP_001258863.1:p.Leu166Ile
NM_001272050.2:c.352C>A NP_001258979.1:p.Leu118Ile
NM_004614.5:c.643C>A MANE Select NP_004605.4:p.Leu215Ile
NR_073520.2:n.1632C>A
NM_001172645.2:c.589C>A NP_001166116.1:p.Leu197Ile