Canonical Allele Identifier: CA403987779
Gene: TYK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10354072T>G , CM000681.2:g.10354072T>G GRCh38
NC_000019.9:g.10464748T>G , CM000681.1:g.10464748T>G GRCh37
NC_000019.8:g.10325748T>G NCBI36
NG_007872.1:g.31501A>C , LRG_121:g.31501A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524470.2:c.*1227A>C ENSP00000514307.1:n.*1227A>C
ENST00000525976.6:c.2878A>C ENSP00000434831.2:p.Ile960Leu
ENST00000527481.3:c.2878A>C ENSP00000466340.2:p.Ile960Leu
ENST00000529370.6:n.4254A>C
ENST00000529739.2:n.3292A>C
ENST00000530829.2:c.*2429A>C ENSP00000436826.2:n.*2429A>C
ENST00000531836.6:c.2878A>C ENSP00000436175.2:p.Ile960Leu
ENST00000533334.2:c.*920A>C ENSP00000432320.2:n.*920A>C
ENST00000534228.2:n.4337A>C
ENST00000699354.1:n.980A>C
ENST00000699355.1:c.*1983A>C ENSP00000514328.1:n.*1983A>C
ENST00000699356.1:n.3292A>C
ENST00000699357.1:n.4337A>C
ENST00000699358.1:c.2878A>C ENSP00000514329.1:p.Ile960Leu
ENST00000699359.1:c.84A>C
ENST00000699360.1:c.2878A>C ENSP00000514331.1:p.Ile960Leu
ENST00000699368.1:c.82A>C ENSP00000514335.1:p.Ile28Leu
ENST00000525621.6:c.2878A>C MANE Select ENSP00000431885.1:p.Ile960Leu
ENST00000264818.10:c.2878A>C ENSP00000264818.6:p.Ile960Leu
ENST00000524462.5:c.2323A>C ENSP00000433203.1:p.Ile775Leu
ENST00000525621.5:c.2878A>C ENSP00000431885.1:p.Ile960Leu
ENST00000527481.2:c.174A>C
ENST00000529412.1:n.550A>C
ENST00000529739.1:c.-449A>C ENSP00000436155.1:n.-449A>C
ENST00000530560.5:c.307A>C ENSP00000465291.1:p.Ile103Leu
ENST00000592137.1:n.32A>C
NM_003331.4:c.2878A>C , LRG_121t1:c.2878A>C NP_003322.3:p.Ile960Leu
XM_011528245.1:c.2878A>C XP_011526547.1:p.Ile960Leu
XM_011528246.1:c.2581A>C XP_011526548.1:p.Ile861Leu
XM_011528247.1:c.2581A>C XP_011526549.1:p.Ile861Leu
XM_011528248.1:c.2878A>C XP_011526550.1:p.Ile960Leu
XM_011528249.1:c.1552A>C XP_011526551.1:p.Ile518Leu
XM_011528251.1:c.1135A>C XP_011526553.1:p.Ile379Leu
XM_011528246.3:c.2581A>C XP_011526548.1:p.Ile861Leu
XM_011528249.2:c.1552A>C XP_011526551.1:p.Ile518Leu
XR_001753750.1:n.3035A>C
XR_001753751.1:n.3035A>C
XR_002958353.1:n.3961A>C
NM_003331.5:c.2878A>C MANE Select NP_003322.3:p.Ile960Leu
NM_001385197.1:c.2878A>C NP_001372126.1:p.Ile960Leu
NM_001385198.1:c.2878A>C NP_001372127.1:p.Ile960Leu
NM_001385199.1:c.2692A>C NP_001372128.1:p.Ile898Leu
NM_001385200.1:c.2875A>C NP_001372129.1:p.Ile959Leu
NM_001385201.1:c.2680A>C NP_001372130.1:p.Ile894Leu
NM_001385202.1:c.2794A>C NP_001372131.1:p.Ile932Leu
NM_001385203.1:c.2959A>C NP_001372132.1:p.Ile987Leu
NM_001385204.1:c.3088A>C NP_001372133.1:p.Ile1030Leu
NM_001385205.1:c.2788A>C NP_001372134.1:p.Ile930Leu
NM_001385206.1:c.2752A>C NP_001372135.1:p.Ile918Leu
NM_001385207.1:c.2860A>C NP_001372136.1:p.Ile954Leu