Canonical Allele Identifier: CA8093910

Gene: TK2

Linked Data

• ClinVar Variation Id: 320161
• ClinVar RCV Id: RCV000290866
• dbSNP Id: rs190131543
• ExAC: 16:66584180 C / T
• gnomAD v2: 16-66584180-C-T
• gnomAD v3: 16-66550277-C-T
• gnomAD v4: 16-66550277-C-T
• MyVariant Identifiers: chr16:g.66584180C>T (hg19) ; chr16:g.66550277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66550277C>T , CM000678.2:g.66550277C>T	GRCh38
NC_000016.9:g.66584180C>T , CM000678.1:g.66584180C>T	GRCh37
NC_000016.8:g.65141681C>T	NCBI36
NG_016862.1:g.5136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.7G>A	ENSP00000299697.9:p.Ala3Thr
ENST00000451102.7:c.7G>A	ENSP00000414334.4:p.Ala3Thr
ENST00000569718.6:c.7G>A	ENSP00000464313.2:p.Ala3Thr
ENST00000678015.1:c.-168+1135G>A	ENSP00000502959.1:n.-168+1135G>A
ENST00000678297.1:c.-93+1135G>A	ENSP00000503472.1:n.-93+1135G>A
ENST00000678314.1:c.-61+1263G>A	ENSP00000504438.1:n.-61+1263G>A
ENST00000299697.11:c.-216G>A	ENSP00000299697.8:n.-216G>A
ENST00000451102.6:c.-90G>A	ENSP00000414334.3:n.-90G>A
ENST00000527284.5:c.7G>A	ENSP00000435312.1:p.Ala3Thr
ENST00000562484.2:c.-167-1268G>A	ENSP00000463326.1:n.-167-1268G>A
ENST00000563478.5:c.-168+1263G>A	ENSP00000462341.1:n.-168+1263G>A
ENST00000620035.4:c.-216G>A	ENSP00000483833.1:n.-216G>A
NM_001172643.1:c.7G>A	NP_001166114.1:p.Ala3Thr
NM_001172644.1:c.-216G>A	NP_001166115.1:n.-216G>A
NM_001172645.1:c.-216G>A	NP_001166116.1:n.-216G>A
NM_001271934.1:c.-458G>A	NP_001258863.1:n.-458G>A
NM_001271935.1:c.7G>A	NP_001258864.1:p.Ala3Thr
NM_004614.4:c.-216G>A	NP_004605.4:n.-216G>A
NR_073520.1:n.136G>A