Canonical Allele Identifier: CA343285
Gene: TK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38973
ClinVar RCV Id: RCV001852641
dbSNP Id: rs281865500
gnomAD v2: 16-66582904-GTTCT-G
gnomAD v3: 16-66549001-GTTCT-G
gnomAD v4: 16-66549001-GTTCT-G
MyVariant Identifiers: chr16:g.66582905_66582908del (hg19) chr16:g.66549002_66549005del (hg38)
PubMed: PMID:23230576
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.66549004_66549007del , CM000678.2:g.66549004_66549007del GRCh38
NC_000016.9:g.66582907_66582910del , CM000678.1:g.66582907_66582910del GRCh37
NC_000016.8:g.65140408_65140411del NCBI36
NG_016862.1:g.6408_6411del

Transcript Alleles

HGVS Amino-acid change
ENST00000299697.12:c.36_39del ENSP00000299697.9:p.Lys12AsnfsTer11
ENST00000417693.8:c.129_132del ENSP00000407469.5:p.Lys43AsnfsTer9
ENST00000451102.7:c.36_39del ENSP00000414334.4:p.Lys12AsnfsTer9
ENST00000527284.6:c.73_76del
ENST00000527800.6:c.-163_-160del ENSP00000433770.1:n.-163_-160del
ENST00000544898.6:c.129_132del MANE Select ENSP00000440898.2:p.Lys43AsnfsTer9
ENST00000567357.6:c.129_132del ENSP00000457959.2:p.Lys43AsnfsTer9
ENST00000569718.6:c.36_39del ENSP00000464313.2:p.Lys12AsnfsTer9
ENST00000620035.5:c.129_132del ENSP00000483833.2:p.Lys43AsnfsTer11
ENST00000676536.1:c.5_8del
ENST00000676538.1:c.5_8del
ENST00000677124.1:n.5_8del
ENST00000677412.1:c.5_8del
ENST00000677420.1:c.-109_-106del ENSP00000504648.1:n.-109_-106del
ENST00000677541.1:c.5_8del
ENST00000677555.1:c.-88_-85del ENSP00000503331.1:n.-88_-85del
ENST00000677715.1:c.-163_-160del ENSP00000502950.1:n.-163_-160del
ENST00000678015.1:c.-163_-160del ENSP00000502959.1:n.-163_-160del
ENST00000678205.1:c.5_8del
ENST00000678297.1:c.-88_-85del ENSP00000503472.1:n.-88_-85del
ENST00000678314.1:c.-61+2535_-61+2538del ENSP00000504438.1:n.-61+2535_-61+2538del
ENST00000679154.1:c.5_8del
ENST00000679271.1:n.35_38del
ENST00000679327.1:n.1100_1103del
ENST00000299697.11:c.129_132del ENSP00000299697.8:p.Lys43AsnfsTer9
ENST00000417693.7:c.255_258del ENSP00000407469.4:p.Lys85AsnfsTer9
ENST00000451102.6:c.255_258del ENSP00000414334.3:p.Lys85AsnfsTer9
ENST00000525974.5:c.-163_-160del ENSP00000434594.1:n.-163_-160del
ENST00000527284.5:c.36_39del ENSP00000435312.1:p.Lys12AsnfsTer9
ENST00000527800.5:c.-163_-160del ENSP00000433770.1:n.-163_-160del
ENST00000544898.5:c.129_132del ENSP00000440898.2:p.Lys43AsnfsTer9
ENST00000545043.6:c.129_132del ENSP00000438143.2:p.Lys43AsnfsTer11
ENST00000562484.2:c.-163_-160del ENSP00000463326.1:n.-163_-160del
ENST00000563369.6:c.-163_-160del ENSP00000463560.1:n.-163_-160del
ENST00000563478.5:c.-163_-160del ENSP00000462341.1:n.-163_-160del
ENST00000564917.5:c.129_132del ENSP00000455187.1:p.Lys43AsnfsTer9
ENST00000567357.5:c.255_258del ENSP00000457959.1:p.Lys85AsnfsTer9
ENST00000569718.5:c.23_26del
ENST00000620035.4:c.129_132del ENSP00000483833.1:p.Lys43AsnfsTer9
NM_001172643.1:c.36_39del NP_001166114.1:p.Lys12AsnfsTer9
NM_001172644.1:c.129_132del NP_001166115.1:p.Lys43AsnfsTer11
NM_001172645.1:c.129_132del NP_001166116.1:p.Lys43AsnfsTer9
NM_001271934.1:c.-114_-111del NP_001258863.1:n.-114_-111del
NM_001271935.1:c.36_39del NP_001258864.1:p.Lys12AsnfsTer9
NM_001272050.1:c.-163_-160del NP_001258979.1:n.-163_-160del
NM_004614.4:c.129_132del NP_004605.4:p.Lys43AsnfsTer9
NR_073520.1:n.1408_1411del
NM_001172644.2:c.129_132del NP_001166115.1:p.Lys43AsnfsTer11
NM_001271934.2:c.-114_-111del NP_001258863.1:n.-114_-111del
NM_001272050.2:c.-163_-160del NP_001258979.1:n.-163_-160del
NM_004614.5:c.129_132del MANE Select NP_004605.4:p.Lys43AsnfsTer9
NR_073520.2:n.1118_1121del
NM_001172645.2:c.129_132del NP_001166116.1:p.Lys43AsnfsTer9
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