Canonical Allele Identifier: CA9192922
Gene: TYK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 287098
dbSNP Id: rs35018800

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10354167G>A , CM000681.2:g.10354167G>A GRCh38
NC_000019.9:g.10464843G>A , CM000681.1:g.10464843G>A GRCh37
NC_000019.8:g.10325843G>A NCBI36
NG_007872.1:g.31406C>T , LRG_121:g.31406C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000524470.2:c.*1132C>T ENSP00000514307.1:n.*1132C>T
ENST00000525976.6:c.2783C>T ENSP00000434831.2:p.Ala928Val
ENST00000527481.3:c.2783C>T ENSP00000466340.2:p.Ala928Val
ENST00000529370.6:n.4159C>T
ENST00000529739.2:n.3197C>T
ENST00000530829.2:c.*2334C>T ENSP00000436826.2:n.*2334C>T
ENST00000531836.6:c.2783C>T ENSP00000436175.2:p.Ala928Val
ENST00000533334.2:c.*825C>T ENSP00000432320.2:n.*825C>T
ENST00000534228.2:n.4242C>T
ENST00000699354.1:n.885C>T
ENST00000699355.1:c.*1888C>T ENSP00000514328.1:n.*1888C>T
ENST00000699356.1:n.3197C>T
ENST00000699357.1:n.4242C>T
ENST00000699358.1:c.2783C>T ENSP00000514329.1:p.Ala928Val
ENST00000699360.1:c.2783C>T ENSP00000514331.1:p.Ala928Val
ENST00000525621.6:c.2783C>T MANE Select ENSP00000431885.1:p.Ala928Val
ENST00000264818.10:c.2783C>T ENSP00000264818.6:p.Ala928Val
ENST00000524462.5:c.2228C>T ENSP00000433203.1:p.Ala743Val
ENST00000525621.5:c.2783C>T ENSP00000431885.1:p.Ala928Val
ENST00000527481.2:c.79C>T
ENST00000529412.1:n.455C>T
ENST00000530560.5:c.212C>T ENSP00000465291.1:p.Ala71Val
NM_003331.4:c.2783C>T , LRG_121t1:c.2783C>T NP_003322.3:p.Ala928Val
XM_011528245.1:c.2783C>T XP_011526547.1:p.Ala928Val
XM_011528246.1:c.2486C>T XP_011526548.1:p.Ala829Val
XM_011528247.1:c.2486C>T XP_011526549.1:p.Ala829Val
XM_011528248.1:c.2783C>T XP_011526550.1:p.Ala928Val
XM_011528249.1:c.1457C>T XP_011526551.1:p.Ala486Val
XM_011528251.1:c.1040C>T XP_011526553.1:p.Ala347Val
XM_011528246.3:c.2486C>T XP_011526548.1:p.Ala829Val
XM_011528249.2:c.1457C>T XP_011526551.1:p.Ala486Val
XR_001753750.1:n.2940C>T
XR_001753751.1:n.2940C>T
XR_002958353.1:n.3866C>T
NM_003331.5:c.2783C>T MANE Select NP_003322.3:p.Ala928Val
NM_001385197.1:c.2783C>T NP_001372126.1:p.Ala928Val
NM_001385198.1:c.2783C>T NP_001372127.1:p.Ala928Val
NM_001385199.1:c.2597C>T NP_001372128.1:p.Ala866Val
NM_001385200.1:c.2780C>T NP_001372129.1:p.Ala927Val
NM_001385201.1:c.2585C>T NP_001372130.1:p.Ala862Val
NM_001385202.1:c.2699C>T NP_001372131.1:p.Ala900Val
NM_001385203.1:c.2864C>T NP_001372132.1:p.Ala955Val
NM_001385204.1:c.2993C>T NP_001372133.1:p.Ala998Val
NM_001385205.1:c.2693C>T NP_001372134.1:p.Ala898Val
NM_001385206.1:c.2657C>T NP_001372135.1:p.Ala886Val
NM_001385207.1:c.2765C>T NP_001372136.1:p.Ala922Val