Canonical Allele Identifier: CA396187696

Gene: TK2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66517166T>G , CM000678.2:g.66517166T>G	GRCh38
NC_000016.9:g.66551069T>G , CM000678.1:g.66551069T>G	GRCh37
NC_000016.8:g.65108570T>G	NCBI36
NG_016862.1:g.38247A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004614.5:c.588A>C MANE Select	NP_004605.4:p.Arg196Ser
ENST00000544898.6:c.588A>C MANE Select	ENSP00000440898.2:p.Arg196Ser
NM_001172643.1:c.495A>C	NP_001166114.1:p.Arg165Ser
NM_001172644.1:c.513A>C	NP_001166115.1:p.Arg171Ser
NM_001172644.2:c.513A>C	NP_001166115.1:p.Arg171Ser
NM_001172645.1:c.534A>C	NP_001166116.1:p.Arg178Ser
NM_001172645.2:c.534A>C	NP_001166116.1:p.Arg178Ser
NM_001271934.1:c.441A>C	NP_001258863.1:p.Arg147Ser
NM_001271934.2:c.441A>C	NP_001258863.1:p.Arg147Ser
NM_001271935.1:c.357-3355A>C	NP_001258864.1:n.357-3355A>C
NM_001272050.1:c.297A>C	NP_001258979.1:p.Arg99Ser
NM_001272050.2:c.297A>C	NP_001258979.1:p.Arg99Ser
NM_004614.4:c.588A>C	NP_004605.4:p.Arg196Ser
NR_073520.1:n.1867A>C
NR_073520.2:n.1577A>C
ENST00000299697.11:c.588A>C	ENSP00000299697.8:p.Arg196Ser
ENST00000299697.12:c.420A>C	ENSP00000299697.9:p.Arg140Ser
ENST00000417693.7:c.660A>C	ENSP00000407469.4:p.Arg220Ser
ENST00000417693.8:c.534A>C	ENSP00000407469.5:p.Arg178Ser
ENST00000451102.6:c.714A>C	ENSP00000414334.3:p.Arg238Ser
ENST00000451102.7:c.495A>C	ENSP00000414334.4:p.Arg165Ser
ENST00000525974.5:c.297A>C	ENSP00000434594.1:p.Arg99Ser
ENST00000527284.5:c.495A>C	ENSP00000435312.1:p.Arg165Ser
ENST00000527284.6:c.532A>C
ENST00000527800.5:c.297A>C	ENSP00000433770.1:p.Arg99Ser
ENST00000527800.6:c.297A>C	ENSP00000433770.1:p.Arg99Ser
ENST00000544898.5:c.588A>C	ENSP00000440898.2:p.Arg196Ser
ENST00000545043.6:c.513A>C	ENSP00000438143.2:p.Arg171Ser
ENST00000561527.5:n.147A>C
ENST00000561728.1:c.37A>C
ENST00000562552.5:n.404A>C
ENST00000563099.5:n.115A>C
ENST00000563369.6:c.297A>C	ENSP00000463560.1:p.Arg99Ser
ENST00000563478.5:c.297A>C	ENSP00000462341.1:p.Arg99Ser
ENST00000564792.1:n.243A>C
ENST00000564917.5:c.588A>C	ENSP00000455187.1:p.Arg196Ser
ENST00000567357.5:c.*446A>C	ENSP00000457959.1:n.*446A>C
ENST00000567357.6:c.*446A>C	ENSP00000457959.2:n.*446A>C
ENST00000569718.5:c.344-3355A>C
ENST00000569718.6:c.357-3355A>C	ENSP00000464313.2:n.357-3355A>C
ENST00000620035.4:c.534A>C	ENSP00000483833.1:p.Arg178Ser
ENST00000620035.5:c.375-3355A>C	ENSP00000483833.2:n.375-3355A>C
ENST00000676538.1:c.171A>C
ENST00000676904.1:c.89+623A>C
ENST00000677379.1:c.229A>C	ENSP00000503672.1:n.229A>C
ENST00000677420.1:c.297A>C	ENSP00000504648.1:p.Arg99Ser
ENST00000677555.1:c.297A>C	ENSP00000503331.1:p.Arg99Ser
ENST00000677715.1:c.297A>C	ENSP00000502950.1:p.Arg99Ser
ENST00000678015.1:c.297A>C	ENSP00000502959.1:p.Arg99Ser
ENST00000678297.1:c.297A>C	ENSP00000503472.1:p.Arg99Ser
ENST00000678314.1:c.297A>C	ENSP00000504438.1:p.Arg99Ser