Canonical Allele Identifier: CA978342899

Gene: TK2

Linked Data

• dbSNP Id: rs1964507920
• gnomAD v3: 16-66513365-CAAA-C
• gnomAD v4: 16-66513365-CAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66513366_66513368del , CM000678.2:g.66513366_66513368del	GRCh38
NC_000016.9:g.66547269_66547271del , CM000678.1:g.66547269_66547271del	GRCh37
NC_000016.8:g.65104770_65104772del	NCBI36
NG_016862.1:g.42045_42047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.531+363_531+365del	ENSP00000299697.9:n.531+363_531+365del
ENST00000417693.8:c.645+363_645+365del	ENSP00000407469.5:n.645+363_645+365del
ENST00000451102.7:c.606+363_606+365del	ENSP00000414334.4:n.606+363_606+365del
ENST00000527284.6:c.563-1302_563-1300del
ENST00000527800.6:c.408+363_408+365del	ENSP00000433770.1:n.408+363_408+365del
ENST00000544898.6:c.699+363_699+365del MANE Select	ENSP00000440898.2:n.699+363_699+365del
ENST00000567357.6:c.*557+363_*557+365del	ENSP00000457959.2:n.*557+363_*557+365del
ENST00000569718.6:c.437+363_437+365del	ENSP00000464313.2:n.437+363_437+365del
ENST00000620035.5:c.455+363_455+365del	ENSP00000483833.2:n.455+363_455+365del
ENST00000677296.1:n.82-244_82-242del
ENST00000677420.1:c.408+363_408+365del	ENSP00000504648.1:n.408+363_408+365del
ENST00000677555.1:c.408+363_408+365del	ENSP00000503331.1:n.408+363_408+365del
ENST00000677715.1:c.408+363_408+365del	ENSP00000502950.1:n.408+363_408+365del
ENST00000677753.1:n.81+363_81+365del
ENST00000678015.1:c.408+363_408+365del	ENSP00000502959.1:n.408+363_408+365del
ENST00000678190.1:c.82-17_82-15del	ENSP00000503824.1:n.82-17_82-15del
ENST00000678282.1:n.81+363_81+365del
ENST00000678297.1:c.408+363_408+365del	ENSP00000503472.1:n.408+363_408+365del
ENST00000299697.11:c.699+363_699+365del	ENSP00000299697.8:n.699+363_699+365del
ENST00000417693.7:c.771+363_771+365del	ENSP00000407469.4:n.771+363_771+365del
ENST00000451102.6:c.825+363_825+365del	ENSP00000414334.3:n.825+363_825+365del
ENST00000525974.5:c.408+363_408+365del	ENSP00000434594.1:n.408+363_408+365del
ENST00000527284.5:c.606+363_606+365del	ENSP00000435312.1:n.606+363_606+365del
ENST00000527800.5:c.408+363_408+365del	ENSP00000433770.1:n.408+363_408+365del
ENST00000544898.5:c.699+363_699+365del	ENSP00000440898.2:n.699+363_699+365del
ENST00000545043.6:c.624+363_624+365del	ENSP00000438143.2:n.624+363_624+365del
ENST00000561527.5:n.258+363_258+365del
ENST00000561728.1:c.148+363_148+365del
ENST00000561905.2:c.53+363_53+365del
ENST00000562552.5:n.515+363_515+365del
ENST00000563099.5:n.226+363_226+365del
ENST00000563369.6:c.408+363_408+365del	ENSP00000463560.1:n.408+363_408+365del
ENST00000564792.1:n.354+363_354+365del
ENST00000564917.5:c.750+363_750+365del	ENSP00000455187.1:n.750+363_750+365del
ENST00000567357.5:c.*557+363_*557+365del	ENSP00000457959.1:n.*557+363_*557+365del
ENST00000569718.5:c.424+363_424+365del
ENST00000620035.4:c.645+363_645+365del	ENSP00000483833.1:n.645+363_645+365del
NM_001172643.1:c.606+363_606+365del	NP_001166114.1:n.606+363_606+365del
NM_001172644.1:c.624+363_624+365del	NP_001166115.1:n.624+363_624+365del
NM_001172645.1:c.645+363_645+365del	NP_001166116.1:n.645+363_645+365del
NM_001271934.1:c.552+363_552+365del	NP_001258863.1:n.552+363_552+365del
NM_001271935.1:c.437+363_437+365del	NP_001258864.1:n.437+363_437+365del
NM_001272050.1:c.408+363_408+365del	NP_001258979.1:n.408+363_408+365del
NM_004614.4:c.699+363_699+365del	NP_004605.4:n.699+363_699+365del
NR_073520.1:n.1978+363_1978+365del
NM_001172644.2:c.624+363_624+365del	NP_001166115.1:n.624+363_624+365del
NM_001271934.2:c.552+363_552+365del	NP_001258863.1:n.552+363_552+365del
NM_001272050.2:c.408+363_408+365del	NP_001258979.1:n.408+363_408+365del
NM_004614.5:c.699+363_699+365del MANE Select	NP_004605.4:n.699+363_699+365del
NR_073520.2:n.1688+363_1688+365del
NM_001172645.2:c.645+363_645+365del	NP_001166116.1:n.645+363_645+365del