Canonical Allele Identifier: CA8093586

Gene: TK2

Linked Data

• dbSNP Id: rs755720235
• ExAC: 16:66547650 A / G
• gnomAD v2: 16-66547650-A-G
• gnomAD v4: 16-66513747-A-G
• MyVariant Identifiers: chr16:g.66547650A>G (hg19) ; chr16:g.66513747A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513747A>G , CM000678.2:g.66513747A>G	GRCh38
NC_000016.9:g.66547650A>G , CM000678.1:g.66547650A>G	GRCh37
NC_000016.8:g.65105151A>G	NCBI36
NG_016862.1:g.41666T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.515T>C	ENSP00000299697.9:p.Met172Thr
ENST00000417693.8:c.629T>C	ENSP00000407469.5:p.Met210Thr
ENST00000451102.7:c.590T>C	ENSP00000414334.4:p.Met197Thr
ENST00000527284.6:c.563-1681T>C
ENST00000527800.6:c.392T>C	ENSP00000433770.1:p.Met131Thr
ENST00000544898.6:c.683T>C MANE Select	ENSP00000440898.2:p.Met228Thr
ENST00000567357.6:c.*541T>C	ENSP00000457959.2:n.*541T>C
ENST00000569718.6:c.421T>C	ENSP00000464313.2:p.Trp141Arg
ENST00000620035.5:c.439T>C	ENSP00000483833.2:p.Trp147Arg
ENST00000676538.1:c.266T>C
ENST00000676904.1:c.154T>C
ENST00000677296.1:n.65T>C
ENST00000677379.1:c.324T>C	ENSP00000503672.1:n.324T>C
ENST00000677420.1:c.392T>C	ENSP00000504648.1:p.Met131Thr
ENST00000677555.1:c.392T>C	ENSP00000503331.1:p.Met131Thr
ENST00000677715.1:c.392T>C	ENSP00000502950.1:p.Met131Thr
ENST00000677753.1:n.65T>C
ENST00000677961.1:n.95T>C
ENST00000678015.1:c.392T>C	ENSP00000502959.1:p.Met131Thr
ENST00000678190.1:c.65T>C	ENSP00000503824.1:p.Met22Thr
ENST00000678282.1:n.65T>C
ENST00000678297.1:c.392T>C	ENSP00000503472.1:p.Met131Thr
ENST00000299697.11:c.683T>C	ENSP00000299697.8:p.Met228Thr
ENST00000417693.7:c.755T>C	ENSP00000407469.4:p.Met252Thr
ENST00000451102.6:c.809T>C	ENSP00000414334.3:p.Met270Thr
ENST00000525974.5:c.392T>C	ENSP00000434594.1:p.Met131Thr
ENST00000527284.5:c.590T>C	ENSP00000435312.1:p.Met197Thr
ENST00000527800.5:c.392T>C	ENSP00000433770.1:p.Met131Thr
ENST00000544898.5:c.683T>C	ENSP00000440898.2:p.Met228Thr
ENST00000545043.6:c.608T>C	ENSP00000438143.2:p.Met203Thr
ENST00000561527.5:n.242T>C
ENST00000561728.1:c.132T>C
ENST00000561905.2:c.37T>C
ENST00000562552.5:n.499T>C
ENST00000563099.5:n.210T>C
ENST00000563369.6:c.392T>C	ENSP00000463560.1:p.Met131Thr
ENST00000564792.1:n.338T>C
ENST00000564917.5:c.734T>C	ENSP00000455187.1:p.Met245Thr
ENST00000567357.5:c.*541T>C	ENSP00000457959.1:n.*541T>C
ENST00000569718.5:c.408T>C
ENST00000620035.4:c.629T>C	ENSP00000483833.1:p.Met210Thr
NM_001172643.1:c.590T>C	NP_001166114.1:p.Met197Thr
NM_001172644.1:c.608T>C	NP_001166115.1:p.Met203Thr
NM_001172645.1:c.629T>C	NP_001166116.1:p.Met210Thr
NM_001271934.1:c.536T>C	NP_001258863.1:p.Met179Thr
NM_001271935.1:c.421T>C	NP_001258864.1:p.Trp141Arg
NM_001272050.1:c.392T>C	NP_001258979.1:p.Met131Thr
NM_004614.4:c.683T>C	NP_004605.4:p.Met228Thr
NR_073520.1:n.1962T>C
NM_001172644.2:c.608T>C	NP_001166115.1:p.Met203Thr
NM_001271934.2:c.536T>C	NP_001258863.1:p.Met179Thr
NM_001272050.2:c.392T>C	NP_001258979.1:p.Met131Thr
NM_004614.5:c.683T>C MANE Select	NP_004605.4:p.Met228Thr
NR_073520.2:n.1672T>C
NM_001172645.2:c.629T>C	NP_001166116.1:p.Met210Thr