Canonical Allele Identifier: CA495901681
Community Standard Title: NM_004614.5(TK2):c.*2359T>C
Gene: TK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66509609A>G , CM000678.2:g.66509609A>G GRCh38
NC_000016.9:g.66543512A>G , CM000678.1:g.66543512A>G GRCh37
NC_000016.8:g.65101013A>G NCBI36
NG_016862.1:g.45804T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004614.5:c.*2359T>C MANE Select NP_004605.4:n.*2359T>C
ENST00000544898.6:c.*2359T>C MANE Select ENSP00000440898.2:n.*2359T>C
NM_001172643.1:c.*2359T>C NP_001166114.1:n.*2359T>C
NM_001172644.1:c.*2359T>C NP_001166115.1:n.*2359T>C
NM_001172644.2:c.*2359T>C NP_001166115.1:n.*2359T>C
NM_001172645.1:c.*2359T>C NP_001166116.1:n.*2359T>C
NM_001172645.2:c.*2359T>C NP_001166116.1:n.*2359T>C
NM_001271934.1:c.*2359T>C NP_001258863.1:n.*2359T>C
NM_001271934.2:c.*2359T>C NP_001258863.1:n.*2359T>C
NM_001271935.1:c.*2454T>C NP_001258864.1:n.*2454T>C
NM_001272050.1:c.*2359T>C NP_001258979.1:n.*2359T>C
NM_001272050.2:c.*2359T>C NP_001258979.1:n.*2359T>C
NM_004614.4:c.*2359T>C NP_004605.4:n.*2359T>C
NR_073520.1:n.4436T>C
NR_073520.2:n.4146T>C
ENST00000299697.11:c.*2359T>C ENSP00000299697.8:n.*2359T>C
ENST00000299697.12:c.*2359T>C ENSP00000299697.9:n.*2359T>C
ENST00000451102.6:c.*2359T>C ENSP00000414334.3:n.*2359T>C
ENST00000451102.7:c.*2359T>C ENSP00000414334.4:n.*2359T>C
ENST00000544898.5:c.*2359T>C ENSP00000440898.2:n.*2359T>C
ENST00000561527.5:n.258+4122T>C
ENST00000561728.1:c.148+4122T>C
ENST00000561905.2:c.54-838T>C
ENST00000620035.4:c.*2359T>C ENSP00000483833.1:n.*2359T>C
ENST00000620035.5:c.*2454T>C ENSP00000483833.2:n.*2454T>C
ENST00000677166.1:n.109+2349T>C
ENST00000677319.1:c.110-838T>C ENSP00000503900.1:n.110-838T>C
ENST00000677535.1:c.1457-838T>C ENSP00000502856.1:n.1457-838T>C
ENST00000677753.1:n.81+4122T>C
ENST00000678015.1:c.*2359T>C ENSP00000502959.1:n.*2359T>C
ENST00000678099.1:c.1808T>C ENSP00000504701.1:n.1808T>C
ENST00000678219.1:c.1345-838T>C ENSP00000504142.1:n.1345-838T>C
ENST00000678282.1:n.81+4122T>C
ENST00000678861.1:c.1793T>C ENSP00000502932.1:n.1793T>C