Canonical Allele Identifier: CA355572770
Gene: TNK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2484233
ClinVar RCV Id: RCV004274827
dbSNP Id: rs1453318395

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.195870170A>C , CM000665.2:g.195870170A>C GRCh38
NC_000003.11:g.195597041A>C , CM000665.1:g.195597041A>C GRCh37
NC_000003.10:g.197081438A>C NCBI36
NG_029779.1:g.43840T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000672887.2:c.1487T>G MANE Select ENSP00000499899.1:p.Leu496Arg
ENST00000333602.14:c.1487T>G ENSP00000329425.6:p.Leu496Arg
ENST00000381916.7:c.1676T>G ENSP00000371341.2:p.Leu559Arg
ENST00000428187.7:c.1583T>G ENSP00000392546.1:p.Leu528Arg
ENST00000439230.6:c.*99T>G ENSP00000395588.1:n.*99T>G
ENST00000671753.1:c.1559T>G ENSP00000499858.1:p.Leu520Arg
ENST00000671767.1:c.281T>G ENSP00000499862.1:p.Leu94Arg
ENST00000672024.1:c.1487T>G ENSP00000500486.1:p.Leu496Arg
ENST00000672098.1:c.17T>G ENSP00000500684.1:p.Leu6Arg
ENST00000672320.1:n.337T>G
ENST00000672548.1:c.17T>G ENSP00000500238.1:p.Leu6Arg
ENST00000672614.1:n.3995T>G
ENST00000672669.1:c.17T>G ENSP00000500276.1:p.Leu6Arg
ENST00000672886.1:c.17T>G ENSP00000500479.1:p.Leu6Arg
ENST00000672887.1:c.1487T>G ENSP00000499899.1:p.Leu496Arg
ENST00000673038.1:c.1583T>G ENSP00000500452.1:p.Leu528Arg
ENST00000673358.1:n.1084T>G
ENST00000673374.1:c.*462T>G ENSP00000500225.1:n.*462T>G
ENST00000673420.1:c.1487T>G ENSP00000500887.1:p.Leu496Arg
ENST00000678220.1:c.1583T>G ENSP00000503221.1:p.Leu528Arg
ENST00000333602.10:c.1487T>G ENSP00000329425.6:p.Leu496Arg
ENST00000381916.6:c.1676T>G ENSP00000371341.2:p.Leu559Arg
ENST00000411741.1:c.422T>G ENSP00000415126.1:p.Leu141Arg
ENST00000416152.5:c.143T>G ENSP00000398614.1:p.Leu48Arg
ENST00000424563.5:c.316T>G
ENST00000428187.5:c.1583T>G ENSP00000392546.1:p.Leu528Arg
ENST00000439230.5:c.*99T>G ENSP00000395588.1:n.*99T>G
ENST00000464041.5:n.1592T>G
ENST00000478623.5:n.305T>G
ENST00000478715.1:n.337T>G
ENST00000481865.5:n.3995T>G
ENST00000489628.1:n.1084T>G
NM_001010938.1:c.1676T>G NP_001010938.1:p.Leu559Arg
NM_001308046.1:c.1583T>G NP_001294975.1:p.Leu528Arg
NM_005781.4:c.1487T>G NP_005772.3:p.Leu496Arg
XM_005269268.3:c.1676T>G XP_005269325.1:p.Leu559Arg
XM_005269270.3:c.1487T>G XP_005269327.1:p.Leu496Arg
XM_005269274.3:c.770T>G XP_005269331.1:p.Leu257Arg
XM_005269275.3:c.545T>G XP_005269332.1:p.Leu182Arg
XM_011512317.1:c.1979T>G XP_011510619.1:p.Leu660Arg
XM_011512318.1:c.1487T>G XP_011510620.1:p.Leu496Arg
XM_011512319.1:c.1487T>G XP_011510621.1:p.Leu496Arg
XM_011512320.1:c.1487T>G XP_011510622.1:p.Leu496Arg
XM_011512321.1:c.1259T>G XP_011510623.1:p.Leu420Arg
XM_011512317.3:c.1979T>G XP_011510619.1:p.Leu660Arg
XM_011512318.2:c.1583T>G XP_011510620.2:p.Leu528Arg
XM_011512321.2:c.1259T>G XP_011510623.1:p.Leu420Arg
XM_017005508.1:c.1583T>G XP_016860997.1:p.Leu528Arg
XM_017005509.1:c.1583T>G XP_016860998.1:p.Leu528Arg
XM_017005510.1:c.1583T>G XP_016860999.1:p.Leu528Arg
XM_024453291.1:c.1679T>G XP_024309059.1:p.Leu560Arg
XM_024453292.1:c.1538T>G XP_024309060.1:p.Leu513Arg
XM_024453293.1:c.1487T>G XP_024309061.1:p.Leu496Arg
XM_024453294.1:c.1487T>G XP_024309062.1:p.Leu496Arg
XM_024453295.1:c.1487T>G XP_024309063.1:p.Leu496Arg
NM_001010938.2:c.1559T>G NP_001010938.2:p.Leu520Arg
NM_001308046.2:c.1583T>G NP_001294975.1:p.Leu528Arg
NM_001382271.1:c.1583T>G NP_001369200.1:p.Leu528Arg
NM_001382272.1:c.1559T>G NP_001369201.1:p.Leu520Arg
NM_001382273.1:c.1487T>G MANE Select NP_001369202.1:p.Leu496Arg
NM_001382274.1:c.1487T>G NP_001369203.1:p.Leu496Arg
NM_001382275.1:c.1583T>G NP_001369204.1:p.Leu528Arg
NM_001386164.1:c.1487T>G NP_001373093.1:p.Leu496Arg
NM_001387707.1:c.1583T>G NP_001374636.1:p.Leu528Arg
NM_001387708.1:c.1559T>G NP_001374637.1:p.Leu520Arg
NM_001387709.1:c.1487T>G NP_001374638.1:p.Leu496Arg
NM_001387710.1:c.1487T>G NP_001374639.1:p.Leu496Arg
NM_001387711.1:c.1487T>G NP_001374640.1:p.Leu496Arg
NM_001387712.1:c.1487T>G NP_001374641.1:p.Leu496Arg
NM_001387713.1:c.1487T>G NP_001374642.1:p.Leu496Arg
NM_001387714.1:c.1487T>G NP_001374643.1:p.Leu496Arg
NM_001387715.1:c.1559T>G NP_001374644.1:p.Leu520Arg
NM_001387716.1:c.1487T>G NP_001374645.1:p.Leu496Arg
NM_001387717.1:c.1487T>G NP_001374646.1:p.Leu496Arg
NM_001387718.1:c.1487T>G NP_001374647.1:p.Leu496Arg
NM_001387719.1:c.1487T>G NP_001374648.1:p.Leu496Arg
NM_001387720.1:c.1487T>G NP_001374649.1:p.Leu496Arg
NM_001387721.1:c.1487T>G NP_001374650.1:p.Leu496Arg
NM_005781.5:c.1487T>G NP_005772.3:p.Leu496Arg
NR_170678.1:n.1734T>G
NR_170679.1:n.2038T>G
NR_170680.1:n.1745T>G
NR_170681.1:n.1745T>G
NR_170682.1:n.2012T>G
NR_170683.1:n.2012T>G
NR_170684.1:n.1425T>G
NR_170685.1:n.1883T>G
NR_170686.1:n.1796T>G
NR_170687.1:n.1726T>G
NR_170688.1:n.2012T>G
NR_170689.1:n.1526T>G
NR_170690.1:n.1337T>G
NR_170691.1:n.1684T>G
NR_170692.1:n.1294T>G