Canonical Allele Identifier: CA291314

Gene: TK2

Linked Data

• ClinVar Variation Id: 137661
• ClinVar RCV Id: RCV000125518 ; RCV001120247 ; RCV002055575
• dbSNP Id: rs144627957
• ExAC: 16:66562883 T / G
• gnomAD v2: 16-66562883-T-G
• gnomAD v3: 16-66528980-T-G
• gnomAD v4: 16-66528980-T-G
• MyVariant Identifiers: chr16:g.66562883T>G (hg19) ; chr16:g.66528980T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66528980T>G , CM000678.2:g.66528980T>G	GRCh38
NC_000016.9:g.66562883T>G , CM000678.1:g.66562883T>G	GRCh37
NC_000016.8:g.65120384T>G	NCBI36
NG_016862.1:g.26433A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299697.12:c.281+14A>C	ENSP00000299697.9:n.281+14A>C
ENST00000417693.8:c.395+14A>C	ENSP00000407469.5:n.395+14A>C
ENST00000451102.7:c.356+14A>C	ENSP00000414334.4:n.356+14A>C
ENST00000527284.6:c.393+14A>C
ENST00000527800.6:c.158+14A>C	ENSP00000433770.1:n.158+14A>C
ENST00000544898.6:c.449+14A>C MANE Select	ENSP00000440898.2:n.449+14A>C
ENST00000567357.6:c.*307+14A>C	ENSP00000457959.2:n.*307+14A>C
ENST00000569718.6:c.356+14A>C	ENSP00000464313.2:n.356+14A>C
ENST00000620035.5:c.374+14A>C	ENSP00000483833.2:n.374+14A>C
ENST00000676538.1:c.33-11103A>C
ENST00000677379.1:c.90+2400A>C	ENSP00000503672.1:n.90+2400A>C
ENST00000677420.1:c.158+14A>C	ENSP00000504648.1:n.158+14A>C
ENST00000677555.1:c.158+14A>C	ENSP00000503331.1:n.158+14A>C
ENST00000677715.1:c.158+14A>C	ENSP00000502950.1:n.158+14A>C
ENST00000678015.1:c.158+14A>C	ENSP00000502959.1:n.158+14A>C
ENST00000678297.1:c.158+14A>C	ENSP00000503472.1:n.158+14A>C
ENST00000678314.1:c.158+14A>C	ENSP00000504438.1:n.158+14A>C
ENST00000299697.11:c.449+14A>C	ENSP00000299697.8:n.449+14A>C
ENST00000417693.7:c.521+14A>C	ENSP00000407469.4:n.521+14A>C
ENST00000451102.6:c.575+14A>C	ENSP00000414334.3:n.575+14A>C
ENST00000525974.5:c.158+14A>C	ENSP00000434594.1:n.158+14A>C
ENST00000527284.5:c.356+14A>C	ENSP00000435312.1:n.356+14A>C
ENST00000527800.5:c.158+14A>C	ENSP00000433770.1:n.158+14A>C
ENST00000544898.5:c.449+14A>C	ENSP00000440898.2:n.449+14A>C
ENST00000545043.6:c.374+14A>C	ENSP00000438143.2:n.374+14A>C
ENST00000562484.2:c.158+14A>C	ENSP00000463326.1:n.158+14A>C
ENST00000563369.6:c.158+14A>C	ENSP00000463560.1:n.158+14A>C
ENST00000563478.5:c.158+14A>C	ENSP00000462341.1:n.158+14A>C
ENST00000564917.5:c.449+14A>C	ENSP00000455187.1:n.449+14A>C
ENST00000567357.5:c.*307+14A>C	ENSP00000457959.1:n.*307+14A>C
ENST00000569718.5:c.343+14A>C
ENST00000620035.4:c.395+14A>C	ENSP00000483833.1:n.395+14A>C
NM_001172643.1:c.356+14A>C	NP_001166114.1:n.356+14A>C
NM_001172644.1:c.374+14A>C	NP_001166115.1:n.374+14A>C
NM_001172645.1:c.395+14A>C	NP_001166116.1:n.395+14A>C
NM_001271934.1:c.302+14A>C	NP_001258863.1:n.302+14A>C
NM_001271935.1:c.356+14A>C	NP_001258864.1:n.356+14A>C
NM_001272050.1:c.158+14A>C	NP_001258979.1:n.158+14A>C
NM_004614.4:c.449+14A>C	NP_004605.4:n.449+14A>C
NR_073520.1:n.1728+14A>C
NM_001172644.2:c.374+14A>C	NP_001166115.1:n.374+14A>C
NM_001271934.2:c.302+14A>C	NP_001258863.1:n.302+14A>C
NM_001272050.2:c.158+14A>C	NP_001258979.1:n.158+14A>C
NM_004614.5:c.449+14A>C MANE Select	NP_004605.4:n.449+14A>C
NR_073520.2:n.1438+14A>C
NM_001172645.2:c.395+14A>C	NP_001166116.1:n.395+14A>C