Canonical Allele Identifier: CA10647895

Gene: TK2

Linked Data

• ClinVar Variation Id: 320126
• ClinVar RCV Id: RCV000350413
• dbSNP Id: rs139593959
• gnomAD v2: 16-66543573-G-A
• gnomAD v3: 16-66509670-G-A
• gnomAD v4: 16-66509670-G-A
• MyVariant Identifiers: chr16:g.66543573G>A (hg19) ; chr16:g.66509670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66509670G>A , CM000678.2:g.66509670G>A	GRCh38
NC_000016.9:g.66543573G>A , CM000678.1:g.66543573G>A	GRCh37
NC_000016.8:g.65101074G>A	NCBI36
NG_016862.1:g.45743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.*2298C>T	ENSP00000299697.9:n.*2298C>T
ENST00000451102.7:c.*2298C>T	ENSP00000414334.4:n.*2298C>T
ENST00000544898.6:c.*2298C>T MANE Select	ENSP00000440898.2:n.*2298C>T
ENST00000620035.5:c.*2393C>T	ENSP00000483833.2:n.*2393C>T
ENST00000677166.1:n.109+2288C>T
ENST00000677319.1:c.110-899C>T	ENSP00000503900.1:n.110-899C>T
ENST00000677535.1:c.1457-899C>T	ENSP00000502856.1:n.1457-899C>T
ENST00000677753.1:n.81+4061C>T
ENST00000678015.1:c.*2298C>T	ENSP00000502959.1:n.*2298C>T
ENST00000678099.1:c.1747C>T	ENSP00000504701.1:n.1747C>T
ENST00000678219.1:c.1345-899C>T	ENSP00000504142.1:n.1345-899C>T
ENST00000678282.1:n.81+4061C>T
ENST00000678861.1:c.1732C>T	ENSP00000502932.1:n.1732C>T
ENST00000299697.11:c.*2298C>T	ENSP00000299697.8:n.*2298C>T
ENST00000451102.6:c.*2298C>T	ENSP00000414334.3:n.*2298C>T
ENST00000544898.5:c.*2298C>T	ENSP00000440898.2:n.*2298C>T
ENST00000561527.5:n.258+4061C>T
ENST00000561728.1:c.148+4061C>T
ENST00000561905.2:c.54-899C>T
ENST00000620035.4:c.*2298C>T	ENSP00000483833.1:n.*2298C>T
NM_001172643.1:c.*2298C>T	NP_001166114.1:n.*2298C>T
NM_001172644.1:c.*2298C>T	NP_001166115.1:n.*2298C>T
NM_001172645.1:c.*2298C>T	NP_001166116.1:n.*2298C>T
NM_001271934.1:c.*2298C>T	NP_001258863.1:n.*2298C>T
NM_001271935.1:c.*2393C>T	NP_001258864.1:n.*2393C>T
NM_001272050.1:c.*2298C>T	NP_001258979.1:n.*2298C>T
NM_004614.4:c.*2298C>T	NP_004605.4:n.*2298C>T
NR_073520.1:n.4375C>T
NM_001172644.2:c.*2298C>T	NP_001166115.1:n.*2298C>T
NM_001271934.2:c.*2298C>T	NP_001258863.1:n.*2298C>T
NM_001272050.2:c.*2298C>T	NP_001258979.1:n.*2298C>T
NM_004614.5:c.*2298C>T MANE Select	NP_004605.4:n.*2298C>T
NR_073520.2:n.4085C>T
NM_001172645.2:c.*2298C>T	NP_001166116.1:n.*2298C>T