Canonical Allele Identifier: CA305191547
Gene: TYK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1466635
ClinVar RCV Id: RCV001990579
dbSNP Id: rs779037308

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10351093G>C , CM000681.2:g.10351093G>C GRCh38
NC_000019.9:g.10461769G>C , CM000681.1:g.10461769G>C GRCh37
NC_000019.8:g.10322769G>C NCBI36
NG_007872.1:g.34480C>G , LRG_121:g.34480C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000524470.2:c.*2059C>G ENSP00000514307.1:n.*2059C>G
ENST00000525976.6:c.3319-125C>G ENSP00000434831.2:n.3319-125C>G
ENST00000527481.3:c.*158C>G ENSP00000466340.2:n.*158C>G
ENST00000529370.6:n.4764C>G
ENST00000529739.2:n.4519C>G
ENST00000530829.2:c.*2939C>G ENSP00000436826.2:n.*2939C>G
ENST00000531836.6:c.3388C>G ENSP00000436175.2:p.Arg1130Gly
ENST00000533334.2:c.*1312C>G ENSP00000432320.2:n.*1312C>G
ENST00000534228.2:n.5124C>G
ENST00000699354.1:n.1490C>G
ENST00000699355.1:c.*2888C>G ENSP00000514328.1:n.*2888C>G
ENST00000699356.1:n.4197C>G
ENST00000699357.1:n.5242C>G
ENST00000699358.1:c.*69C>G ENSP00000514329.1:n.*69C>G
ENST00000699359.1:c.562C>G
ENST00000699360.1:c.3346C>G ENSP00000514331.1:p.Arg1116Gly
ENST00000699361.1:n.422C>G
ENST00000699362.1:c.284C>G ENSP00000514332.1:n.284C>G
ENST00000699363.1:c.265C>G ENSP00000514333.1:n.265C>G
ENST00000699364.1:n.388C>G
ENST00000699365.1:c.457C>G ENSP00000514334.1:p.Arg153Gly
ENST00000699366.1:n.112-125C>G
ENST00000699367.1:n.181C>G
ENST00000699368.1:c.875C>G ENSP00000514335.1:n.875C>G
ENST00000525621.6:c.3388C>G MANE Select ENSP00000431885.1:p.Arg1130Gly
ENST00000264818.10:c.3388C>G ENSP00000264818.6:p.Arg1130Gly
ENST00000524462.5:c.2833C>G ENSP00000433203.1:p.Arg945Gly
ENST00000524470.1:n.193C>G
ENST00000525621.5:c.3388C>G ENSP00000431885.1:p.Arg1130Gly
ENST00000525976.5:c.60-125C>G
ENST00000527481.2:c.565C>G
ENST00000529422.1:n.317C>G
ENST00000530220.1:n.332-125C>G
ENST00000530560.5:c.338-125C>G ENSP00000465291.1:n.338-125C>G
NM_003331.4:c.3388C>G , LRG_121t1:c.3388C>G NP_003322.3:p.Arg1130Gly
XM_011528245.1:c.3388C>G XP_011526547.1:p.Arg1130Gly
XM_011528246.1:c.3091C>G XP_011526548.1:p.Arg1031Gly
XM_011528247.1:c.3091C>G XP_011526549.1:p.Arg1031Gly
XM_011528248.1:c.*69C>G XP_011526550.1:n.*69C>G
XM_011528249.1:c.2062C>G XP_011526551.1:p.Arg688Gly
XM_011528251.1:c.1645C>G XP_011526553.1:p.Arg549Gly
XM_011528246.3:c.3091C>G XP_011526548.1:p.Arg1031Gly
XM_011528249.2:c.2062C>G XP_011526551.1:p.Arg688Gly
XR_001753750.1:n.3427C>G
XR_001753751.1:n.4262C>G
XR_002958353.1:n.4866C>G
NM_003331.5:c.3388C>G MANE Select NP_003322.3:p.Arg1130Gly
NM_001385197.1:c.3319-125C>G NP_001372126.1:n.3319-125C>G
NM_001385198.1:c.3238C>G NP_001372127.1:p.Arg1080Gly
NM_001385199.1:c.3202C>G NP_001372128.1:p.Arg1068Gly
NM_001385200.1:c.3385C>G NP_001372129.1:p.Arg1129Gly
NM_001385201.1:c.3190C>G NP_001372130.1:p.Arg1064Gly
NM_001385202.1:c.3304C>G NP_001372131.1:p.Arg1102Gly
NM_001385203.1:c.3469C>G NP_001372132.1:p.Arg1157Gly
NM_001385204.1:c.3598C>G NP_001372133.1:p.Arg1200Gly
NM_001385205.1:c.3298C>G NP_001372134.1:p.Arg1100Gly
NM_001385206.1:c.3262C>G NP_001372135.1:p.Arg1088Gly
NM_001385207.1:c.3370C>G NP_001372136.1:p.Arg1124Gly