Canonical Allele Identifier: CA396190652

Gene: TK2

Linked Data

• ClinVar Variation Id: 694439
• ClinVar RCV Id: RCV000855771 ; RCV001772153
• dbSNP Id: rs1194187379
• gnomAD v2: 16-66565348-G-A
• gnomAD v3: 16-66531445-G-A
• gnomAD v4: 16-66531445-G-A
• MyVariant Identifiers: chr16:g.66565348G>A (hg19) ; chr16:g.66531445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66531445G>A , CM000678.2:g.66531445G>A	GRCh38
NC_000016.9:g.66565348G>A , CM000678.1:g.66565348G>A	GRCh37
NC_000016.8:g.65122849G>A	NCBI36
NG_016862.1:g.23968C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000299697.12:c.142C>T	ENSP00000299697.9:p.Arg48Cys
ENST00000417693.8:c.256C>T	ENSP00000407469.5:p.Arg86Cys
ENST00000451102.7:c.217C>T	ENSP00000414334.4:p.Arg73Cys
ENST00000527284.6:c.254C>T
ENST00000527800.6:c.19C>T	ENSP00000433770.1:p.Arg7Cys
ENST00000544898.6:c.310C>T MANE Select	ENSP00000440898.2:p.Arg104Cys
ENST00000567357.6:c.*168C>T	ENSP00000457959.2:n.*168C>T
ENST00000569718.6:c.217C>T	ENSP00000464313.2:p.Arg73Cys
ENST00000620035.5:c.235C>T	ENSP00000483833.2:p.Arg79Cys
ENST00000676538.1:c.33-13568C>T
ENST00000677379.1:c.25C>T	ENSP00000503672.1:p.Arg9Cys
ENST00000677420.1:c.19C>T	ENSP00000504648.1:p.Arg7Cys
ENST00000677497.1:n.197C>T
ENST00000677555.1:c.19C>T	ENSP00000503331.1:p.Arg7Cys
ENST00000677715.1:c.19C>T	ENSP00000502950.1:p.Arg7Cys
ENST00000677739.1:c.55-2378C>T	ENSP00000504644.1:n.55-2378C>T
ENST00000678015.1:c.19C>T	ENSP00000502959.1:p.Arg7Cys
ENST00000678297.1:c.19C>T	ENSP00000503472.1:p.Arg7Cys
ENST00000678314.1:c.19C>T	ENSP00000504438.1:p.Arg7Cys
ENST00000678746.1:c.200C>T	ENSP00000503227.1:n.200C>T
ENST00000679154.1:c.57C>T
ENST00000299697.11:c.310C>T	ENSP00000299697.8:p.Arg104Cys
ENST00000417693.7:c.382C>T	ENSP00000407469.4:p.Arg128Cys
ENST00000451102.6:c.436C>T	ENSP00000414334.3:p.Arg146Cys
ENST00000525974.5:c.19C>T	ENSP00000434594.1:p.Arg7Cys
ENST00000527284.5:c.217C>T	ENSP00000435312.1:p.Arg73Cys
ENST00000527800.5:c.19C>T	ENSP00000433770.1:p.Arg7Cys
ENST00000544898.5:c.310C>T	ENSP00000440898.2:p.Arg104Cys
ENST00000545043.6:c.235C>T	ENSP00000438143.2:p.Arg79Cys
ENST00000562484.2:c.19C>T	ENSP00000463326.1:p.Arg7Cys
ENST00000563369.6:c.19C>T	ENSP00000463560.1:p.Arg7Cys
ENST00000563478.5:c.19C>T	ENSP00000462341.1:p.Arg7Cys
ENST00000564917.5:c.310C>T	ENSP00000455187.1:p.Arg104Cys
ENST00000567357.5:c.*168C>T	ENSP00000457959.1:n.*168C>T
ENST00000569718.5:c.204C>T
ENST00000620035.4:c.256C>T	ENSP00000483833.1:p.Arg86Cys
NM_001172643.1:c.217C>T	NP_001166114.1:p.Arg73Cys
NM_001172644.1:c.235C>T	NP_001166115.1:p.Arg79Cys
NM_001172645.1:c.256C>T	NP_001166116.1:p.Arg86Cys
NM_001271934.1:c.163C>T	NP_001258863.1:p.Arg55Cys
NM_001271935.1:c.217C>T	NP_001258864.1:p.Arg73Cys
NM_001272050.1:c.19C>T	NP_001258979.1:p.Arg7Cys
NM_004614.4:c.310C>T	NP_004605.4:p.Arg104Cys
NR_073520.1:n.1589C>T
NM_001172644.2:c.235C>T	NP_001166115.1:p.Arg79Cys
NM_001271934.2:c.163C>T	NP_001258863.1:p.Arg55Cys
NM_001272050.2:c.19C>T	NP_001258979.1:p.Arg7Cys
NM_004614.5:c.310C>T MANE Select	NP_004605.4:p.Arg104Cys
NR_073520.2:n.1299C>T
NM_001172645.2:c.256C>T	NP_001166116.1:p.Arg86Cys