Canonical Allele Identifier: CA343290

Gene: TK2

Linked Data

• ClinVar Variation Id: 38977
• ClinVar RCV Id: RCV003492321
• dbSNP Id: rs281865499
• ExAC: 16:66582879 A / G
• gnomAD v2: 16-66582879-A-G
• gnomAD v3: 16-66548976-A-G
• gnomAD v4: 16-66548976-A-G
• MyVariant Identifiers: chr16:g.66582879A>G (hg19) ; chr16:g.66548976A>G (hg38)
• PubMed: PMID:23230576

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66548976A>G , CM000678.2:g.66548976A>G	GRCh38
NC_000016.9:g.66582879A>G , CM000678.1:g.66582879A>G	GRCh37
NC_000016.8:g.65140380A>G	NCBI36
NG_016862.1:g.6437T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000299697.12:c.63+2T>C	ENSP00000299697.9:n.63+2T>C
ENST00000417693.8:c.156+2T>C	ENSP00000407469.5:n.156+2T>C
ENST00000451102.7:c.63+2T>C	ENSP00000414334.4:n.63+2T>C
ENST00000527284.6:c.100+2T>C
ENST00000527800.6:c.-136+2T>C	ENSP00000433770.1:n.-136+2T>C
ENST00000544898.6:c.156+2T>C MANE Select	ENSP00000440898.2:n.156+2T>C
ENST00000567357.6:c.156+2T>C	ENSP00000457959.2:n.156+2T>C
ENST00000569718.6:c.63+2T>C	ENSP00000464313.2:n.63+2T>C
ENST00000620035.5:c.156+2T>C	ENSP00000483833.2:n.156+2T>C
ENST00000676536.1:c.32+2T>C
ENST00000676538.1:c.32+2T>C
ENST00000677124.1:n.32+2T>C
ENST00000677412.1:c.32+2T>C
ENST00000677420.1:c.-82+2T>C	ENSP00000504648.1:n.-82+2T>C
ENST00000677541.1:c.32+2T>C
ENST00000677555.1:c.-61+2T>C	ENSP00000503331.1:n.-61+2T>C
ENST00000677715.1:c.-136+2T>C	ENSP00000502950.1:n.-136+2T>C
ENST00000678015.1:c.-136+2T>C	ENSP00000502959.1:n.-136+2T>C
ENST00000678205.1:c.32+2T>C
ENST00000678297.1:c.-61+2T>C	ENSP00000503472.1:n.-61+2T>C
ENST00000678314.1:c.-61+2564T>C	ENSP00000504438.1:n.-61+2564T>C
ENST00000679154.1:c.32+2T>C
ENST00000679327.1:n.1127+2T>C
ENST00000299697.11:c.156+2T>C	ENSP00000299697.8:n.156+2T>C
ENST00000417693.7:c.282+2T>C	ENSP00000407469.4:n.282+2T>C
ENST00000451102.6:c.282+2T>C	ENSP00000414334.3:n.282+2T>C
ENST00000525974.5:c.-136+2T>C	ENSP00000434594.1:n.-136+2T>C
ENST00000527284.5:c.63+2T>C	ENSP00000435312.1:n.63+2T>C
ENST00000527800.5:c.-136+2T>C	ENSP00000433770.1:n.-136+2T>C
ENST00000544898.5:c.156+2T>C	ENSP00000440898.2:n.156+2T>C
ENST00000545043.6:c.156+2T>C	ENSP00000438143.2:n.156+2T>C
ENST00000562484.2:c.-136+2T>C	ENSP00000463326.1:n.-136+2T>C
ENST00000563369.6:c.-136+2T>C	ENSP00000463560.1:n.-136+2T>C
ENST00000563478.5:c.-136+2T>C	ENSP00000462341.1:n.-136+2T>C
ENST00000564917.5:c.156+2T>C	ENSP00000455187.1:n.156+2T>C
ENST00000567357.5:c.282+2T>C	ENSP00000457959.1:n.282+2T>C
ENST00000569718.5:c.50+2T>C
ENST00000620035.4:c.156+2T>C	ENSP00000483833.1:n.156+2T>C
NM_001172643.1:c.63+2T>C	NP_001166114.1:n.63+2T>C
NM_001172644.1:c.156+2T>C	NP_001166115.1:n.156+2T>C
NM_001172645.1:c.156+2T>C	NP_001166116.1:n.156+2T>C
NM_001271934.1:c.-87+2T>C	NP_001258863.1:n.-87+2T>C
NM_001271935.1:c.63+2T>C	NP_001258864.1:n.63+2T>C
NM_001272050.1:c.-136+2T>C	NP_001258979.1:n.-136+2T>C
NM_004614.4:c.156+2T>C	NP_004605.4:n.156+2T>C
NR_073520.1:n.1435+2T>C
NM_001172644.2:c.156+2T>C	NP_001166115.1:n.156+2T>C
NM_001271934.2:c.-87+2T>C	NP_001258863.1:n.-87+2T>C
NM_001272050.2:c.-136+2T>C	NP_001258979.1:n.-136+2T>C
NM_004614.5:c.156+2T>C MANE Select	NP_004605.4:n.156+2T>C
NR_073520.2:n.1145+2T>C
NM_001172645.2:c.156+2T>C	NP_001166116.1:n.156+2T>C