Canonical Allele Identifier: CA10638190

Gene: TK2

Linked Data

• ClinVar Variation Id: 320143
• ClinVar RCV Id: RCV000329616
• dbSNP Id: rs886052204
• gnomAD v3: 16-66510565-T-C
• gnomAD v4: 16-66510565-T-C
• MyVariant Identifiers: chr16:g.66544468T>C (hg19) ; chr16:g.66510565T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66510565T>C , CM000678.2:g.66510565T>C	GRCh38
NC_000016.9:g.66544468T>C , CM000678.1:g.66544468T>C	GRCh37
NC_000016.8:g.65101969T>C	NCBI36
NG_016862.1:g.44848A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.*1403A>G	ENSP00000299697.9:n.*1403A>G
ENST00000451102.7:c.*1403A>G	ENSP00000414334.4:n.*1403A>G
ENST00000544898.6:c.*1403A>G MANE Select	ENSP00000440898.2:n.*1403A>G
ENST00000620035.5:c.*1498A>G	ENSP00000483833.2:n.*1498A>G
ENST00000677166.1:n.109+1393A>G
ENST00000677319.1:c.109+1393A>G	ENSP00000503900.1:n.109+1393A>G
ENST00000677535.1:c.1456+46A>G	ENSP00000502856.1:n.1456+46A>G
ENST00000677753.1:n.81+3166A>G
ENST00000678015.1:c.*1403A>G	ENSP00000502959.1:n.*1403A>G
ENST00000678099.1:c.852A>G	ENSP00000504701.1:n.852A>G
ENST00000678219.1:c.1344+158A>G	ENSP00000504142.1:n.1344+158A>G
ENST00000678282.1:n.81+3166A>G
ENST00000678861.1:c.837A>G	ENSP00000502932.1:n.837A>G
ENST00000299697.11:c.*1403A>G	ENSP00000299697.8:n.*1403A>G
ENST00000451102.6:c.*1403A>G	ENSP00000414334.3:n.*1403A>G
ENST00000544898.5:c.*1403A>G	ENSP00000440898.2:n.*1403A>G
ENST00000561527.5:n.258+3166A>G
ENST00000561728.1:c.148+3166A>G
ENST00000561905.2:c.54-1794A>G
ENST00000620035.4:c.*1403A>G	ENSP00000483833.1:n.*1403A>G
NM_001172643.1:c.*1403A>G	NP_001166114.1:n.*1403A>G
NM_001172644.1:c.*1403A>G	NP_001166115.1:n.*1403A>G
NM_001172645.1:c.*1403A>G	NP_001166116.1:n.*1403A>G
NM_001271934.1:c.*1403A>G	NP_001258863.1:n.*1403A>G
NM_001271935.1:c.*1498A>G	NP_001258864.1:n.*1498A>G
NM_001272050.1:c.*1403A>G	NP_001258979.1:n.*1403A>G
NM_004614.4:c.*1403A>G	NP_004605.4:n.*1403A>G
NR_073520.1:n.3480A>G
NM_001172644.2:c.*1403A>G	NP_001166115.1:n.*1403A>G
NM_001271934.2:c.*1403A>G	NP_001258863.1:n.*1403A>G
NM_001272050.2:c.*1403A>G	NP_001258979.1:n.*1403A>G
NM_004614.5:c.*1403A>G MANE Select	NP_004605.4:n.*1403A>G
NR_073520.2:n.3190A>G
NM_001172645.2:c.*1403A>G	NP_001166116.1:n.*1403A>G