Canonical Allele Identifier: CA324487
Gene: TK2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66517858C>T , CM000678.2:g.66517858C>T GRCh38
NC_000016.9:g.66551761C>T , CM000678.1:g.66551761C>T GRCh37
NC_000016.8:g.65109262C>T NCBI36
NG_016862.1:g.37555G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299697.12:c.301G>A ENSP00000299697.9:p.Asp101Asn
ENST00000417693.8:c.415G>A ENSP00000407469.5:p.Asp139Asn
ENST00000451102.7:c.376G>A ENSP00000414334.4:p.Asp126Asn
ENST00000527284.6:c.413G>A
ENST00000527800.6:c.178G>A ENSP00000433770.1:p.Asp60Asn
ENST00000544898.6:c.469G>A MANE Select ENSP00000440898.2:p.Asp157Asn
ENST00000567357.6:c.*327G>A ENSP00000457959.2:n.*327G>A
ENST00000569718.6:c.357-4047G>A ENSP00000464313.2:n.357-4047G>A
ENST00000620035.5:c.375-4047G>A ENSP00000483833.2:n.375-4047G>A
ENST00000676538.1:c.52G>A
ENST00000676718.1:n.50G>A
ENST00000676904.1:c.20G>A
ENST00000677379.1:c.110G>A ENSP00000503672.1:p.Gly37Glu
ENST00000677420.1:c.178G>A ENSP00000504648.1:p.Asp60Asn
ENST00000677555.1:c.178G>A ENSP00000503331.1:p.Asp60Asn
ENST00000677715.1:c.178G>A ENSP00000502950.1:p.Asp60Asn
ENST00000678015.1:c.178G>A ENSP00000502959.1:p.Asp60Asn
ENST00000678297.1:c.178G>A ENSP00000503472.1:p.Asp60Asn
ENST00000678314.1:c.178G>A ENSP00000504438.1:p.Asp60Asn
ENST00000679306.1:n.50G>A
ENST00000299697.11:c.469G>A ENSP00000299697.8:p.Asp157Asn
ENST00000417693.7:c.541G>A ENSP00000407469.4:p.Asp181Asn
ENST00000451102.6:c.595G>A ENSP00000414334.3:p.Asp199Asn
ENST00000525974.5:c.178G>A ENSP00000434594.1:p.Asp60Asn
ENST00000527284.5:c.376G>A ENSP00000435312.1:p.Asp126Asn
ENST00000527800.5:c.178G>A ENSP00000433770.1:p.Asp60Asn
ENST00000544898.5:c.469G>A ENSP00000440898.2:p.Asp157Asn
ENST00000545043.6:c.394G>A ENSP00000438143.2:p.Asp132Asn
ENST00000562484.2:c.178G>A ENSP00000463326.1:p.Asp60Asn
ENST00000562552.5:n.285G>A
ENST00000563369.6:c.178G>A ENSP00000463560.1:p.Asp60Asn
ENST00000563478.5:c.178G>A ENSP00000462341.1:p.Asp60Asn
ENST00000564792.1:n.124G>A
ENST00000564917.5:c.469G>A ENSP00000455187.1:p.Asp157Asn
ENST00000567357.5:c.*327G>A ENSP00000457959.1:n.*327G>A
ENST00000569718.5:c.344-4047G>A
ENST00000620035.4:c.415G>A ENSP00000483833.1:p.Asp139Asn
NM_001172643.1:c.376G>A NP_001166114.1:p.Asp126Asn
NM_001172644.1:c.394G>A NP_001166115.1:p.Asp132Asn
NM_001172645.1:c.415G>A NP_001166116.1:p.Asp139Asn
NM_001271934.1:c.322G>A NP_001258863.1:p.Asp108Asn
NM_001271935.1:c.357-4047G>A NP_001258864.1:n.357-4047G>A
NM_001272050.1:c.178G>A NP_001258979.1:p.Asp60Asn
NM_004614.4:c.469G>A NP_004605.4:p.Asp157Asn
NR_073520.1:n.1748G>A
NM_001172644.2:c.394G>A NP_001166115.1:p.Asp132Asn
NM_001271934.2:c.322G>A NP_001258863.1:p.Asp108Asn
NM_001272050.2:c.178G>A NP_001258979.1:p.Asp60Asn
NM_004614.5:c.469G>A MANE Select NP_004605.4:p.Asp157Asn
NR_073520.2:n.1458G>A
NM_001172645.2:c.415G>A NP_001166116.1:p.Asp139Asn