Canonical Allele Identifier: CA322107

Gene: TK2

Linked Data

• ClinVar Variation Id: 38990
• ClinVar RCV Id: RCV003904881
• dbSNP Id: rs281865494
• ExAC: 16:66562930 G / A
• gnomAD v2: 16-66562930-G-A
• gnomAD v3: 16-66529027-G-A
• gnomAD v4: 16-66529027-G-A
• MyVariant Identifiers: chr16:g.66562930G>A (hg19) ; chr16:g.66529027G>A (hg38)
• PubMed: PMID:16504786 ; PMID:23230576 ; PMID:25446393

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66529027G>A , CM000678.2:g.66529027G>A	GRCh38
NC_000016.9:g.66562930G>A , CM000678.1:g.66562930G>A	GRCh37
NC_000016.8:g.65120431G>A	NCBI36
NG_016862.1:g.26386C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299697.12:c.248C>T	ENSP00000299697.9:p.Ala83Val
ENST00000417693.8:c.362C>T	ENSP00000407469.5:p.Ala121Val
ENST00000451102.7:c.323C>T	ENSP00000414334.4:p.Ala108Val
ENST00000527284.6:c.360C>T
ENST00000527800.6:c.125C>T	ENSP00000433770.1:p.Ala42Val
ENST00000544898.6:c.416C>T MANE Select	ENSP00000440898.2:p.Ala139Val
ENST00000567357.6:c.*274C>T	ENSP00000457959.2:n.*274C>T
ENST00000569718.6:c.323C>T	ENSP00000464313.2:p.Ala108Val
ENST00000620035.5:c.341C>T	ENSP00000483833.2:p.Ala114Val
ENST00000676538.1:c.33-11150C>T
ENST00000677379.1:c.90+2353C>T	ENSP00000503672.1:n.90+2353C>T
ENST00000677420.1:c.125C>T	ENSP00000504648.1:p.Ala42Val
ENST00000677555.1:c.125C>T	ENSP00000503331.1:p.Ala42Val
ENST00000677715.1:c.125C>T	ENSP00000502950.1:p.Ala42Val
ENST00000677739.1:c.95C>T	ENSP00000504644.1:p.Ala32Val
ENST00000678015.1:c.125C>T	ENSP00000502959.1:p.Ala42Val
ENST00000678297.1:c.125C>T	ENSP00000503472.1:p.Ala42Val
ENST00000678314.1:c.125C>T	ENSP00000504438.1:p.Ala42Val
ENST00000678746.1:c.306C>T	ENSP00000503227.1:n.306C>T
ENST00000299697.11:c.416C>T	ENSP00000299697.8:p.Ala139Val
ENST00000417693.7:c.488C>T	ENSP00000407469.4:p.Ala163Val
ENST00000451102.6:c.542C>T	ENSP00000414334.3:p.Ala181Val
ENST00000525974.5:c.125C>T	ENSP00000434594.1:p.Ala42Val
ENST00000527284.5:c.323C>T	ENSP00000435312.1:p.Ala108Val
ENST00000527800.5:c.125C>T	ENSP00000433770.1:p.Ala42Val
ENST00000544898.5:c.416C>T	ENSP00000440898.2:p.Ala139Val
ENST00000545043.6:c.341C>T	ENSP00000438143.2:p.Ala114Val
ENST00000562484.2:c.125C>T	ENSP00000463326.1:p.Ala42Val
ENST00000563369.6:c.125C>T	ENSP00000463560.1:p.Ala42Val
ENST00000563478.5:c.125C>T	ENSP00000462341.1:p.Ala42Val
ENST00000564917.5:c.416C>T	ENSP00000455187.1:p.Ala139Val
ENST00000567357.5:c.*274C>T	ENSP00000457959.1:n.*274C>T
ENST00000569718.5:c.310C>T
ENST00000620035.4:c.362C>T	ENSP00000483833.1:p.Ala121Val
NM_001172643.1:c.323C>T	NP_001166114.1:p.Ala108Val
NM_001172644.1:c.341C>T	NP_001166115.1:p.Ala114Val
NM_001172645.1:c.362C>T	NP_001166116.1:p.Ala121Val
NM_001271934.1:c.269C>T	NP_001258863.1:p.Ala90Val
NM_001271935.1:c.323C>T	NP_001258864.1:p.Ala108Val
NM_001272050.1:c.125C>T	NP_001258979.1:p.Ala42Val
NM_004614.4:c.416C>T	NP_004605.4:p.Ala139Val
NR_073520.1:n.1695C>T
NM_001172644.2:c.341C>T	NP_001166115.1:p.Ala114Val
NM_001271934.2:c.269C>T	NP_001258863.1:p.Ala90Val
NM_001272050.2:c.125C>T	NP_001258979.1:p.Ala42Val
NM_004614.5:c.416C>T MANE Select	NP_004605.4:p.Ala139Val
NR_073520.2:n.1405C>T
NM_001172645.2:c.362C>T	NP_001166116.1:p.Ala121Val