Canonical Allele Identifier: CA396187056

Gene: TK2

Linked Data

• gnomAD v4: 16-66513742-C-G
• MyVariant Identifiers: chr16:g.66547645C>G (hg19) ; chr16:g.66513742C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513742C>G , CM000678.2:g.66513742C>G	GRCh38
NC_000016.9:g.66547645C>G , CM000678.1:g.66547645C>G	GRCh37
NC_000016.8:g.65105146C>G	NCBI36
NG_016862.1:g.41671G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.520G>C	ENSP00000299697.9:p.Ala174Pro
ENST00000417693.8:c.634G>C	ENSP00000407469.5:p.Ala212Pro
ENST00000451102.7:c.595G>C	ENSP00000414334.4:p.Ala199Pro
ENST00000527284.6:c.563-1676G>C
ENST00000527800.6:c.397G>C	ENSP00000433770.1:p.Ala133Pro
ENST00000544898.6:c.688G>C MANE Select	ENSP00000440898.2:p.Ala230Pro
ENST00000567357.6:c.*546G>C	ENSP00000457959.2:n.*546G>C
ENST00000569718.6:c.426G>C	ENSP00000464313.2:p.Gln142His
ENST00000620035.5:c.444G>C	ENSP00000483833.2:p.Gln148His
ENST00000676538.1:c.271G>C
ENST00000676904.1:c.159G>C
ENST00000677296.1:n.70G>C
ENST00000677379.1:c.329G>C	ENSP00000503672.1:n.329G>C
ENST00000677420.1:c.397G>C	ENSP00000504648.1:p.Ala133Pro
ENST00000677555.1:c.397G>C	ENSP00000503331.1:p.Ala133Pro
ENST00000677715.1:c.397G>C	ENSP00000502950.1:p.Ala133Pro
ENST00000677753.1:n.70G>C
ENST00000677961.1:n.100G>C
ENST00000678015.1:c.397G>C	ENSP00000502959.1:p.Ala133Pro
ENST00000678190.1:c.70G>C	ENSP00000503824.1:p.Ala24Pro
ENST00000678282.1:n.70G>C
ENST00000678297.1:c.397G>C	ENSP00000503472.1:p.Ala133Pro
ENST00000299697.11:c.688G>C	ENSP00000299697.8:p.Ala230Pro
ENST00000417693.7:c.760G>C	ENSP00000407469.4:p.Ala254Pro
ENST00000451102.6:c.814G>C	ENSP00000414334.3:p.Ala272Pro
ENST00000525974.5:c.397G>C	ENSP00000434594.1:p.Ala133Pro
ENST00000527284.5:c.595G>C	ENSP00000435312.1:p.Ala199Pro
ENST00000527800.5:c.397G>C	ENSP00000433770.1:p.Ala133Pro
ENST00000544898.5:c.688G>C	ENSP00000440898.2:p.Ala230Pro
ENST00000545043.6:c.613G>C	ENSP00000438143.2:p.Ala205Pro
ENST00000561527.5:n.247G>C
ENST00000561728.1:c.137G>C
ENST00000561905.2:c.42G>C
ENST00000562552.5:n.504G>C
ENST00000563099.5:n.215G>C
ENST00000563369.6:c.397G>C	ENSP00000463560.1:p.Ala133Pro
ENST00000564792.1:n.343G>C
ENST00000564917.5:c.739G>C	ENSP00000455187.1:p.Ala247Pro
ENST00000567357.5:c.*546G>C	ENSP00000457959.1:n.*546G>C
ENST00000569718.5:c.413G>C
ENST00000620035.4:c.634G>C	ENSP00000483833.1:p.Ala212Pro
NM_001172643.1:c.595G>C	NP_001166114.1:p.Ala199Pro
NM_001172644.1:c.613G>C	NP_001166115.1:p.Ala205Pro
NM_001172645.1:c.634G>C	NP_001166116.1:p.Ala212Pro
NM_001271934.1:c.541G>C	NP_001258863.1:p.Ala181Pro
NM_001271935.1:c.426G>C	NP_001258864.1:p.Gln142His
NM_001272050.1:c.397G>C	NP_001258979.1:p.Ala133Pro
NM_004614.4:c.688G>C	NP_004605.4:p.Ala230Pro
NR_073520.1:n.1967G>C
NM_001172644.2:c.613G>C	NP_001166115.1:p.Ala205Pro
NM_001271934.2:c.541G>C	NP_001258863.1:p.Ala181Pro
NM_001272050.2:c.397G>C	NP_001258979.1:p.Ala133Pro
NM_004614.5:c.688G>C MANE Select	NP_004605.4:p.Ala230Pro
NR_073520.2:n.1677G>C
NM_001172645.2:c.634G>C	NP_001166116.1:p.Ala212Pro