Canonical Allele Identifier: CA403988618
Gene: TYK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10354165C>G , CM000681.2:g.10354165C>G GRCh38
NC_000019.9:g.10464841C>G , CM000681.1:g.10464841C>G GRCh37
NC_000019.8:g.10325841C>G NCBI36
NG_007872.1:g.31408G>C , LRG_121:g.31408G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524470.2:c.*1134G>C ENSP00000514307.1:n.*1134G>C
ENST00000525976.6:c.2785G>C ENSP00000434831.2:p.Val929Leu
ENST00000527481.3:c.2785G>C ENSP00000466340.2:p.Val929Leu
ENST00000529370.6:n.4161G>C
ENST00000529739.2:n.3199G>C
ENST00000530829.2:c.*2336G>C ENSP00000436826.2:n.*2336G>C
ENST00000531836.6:c.2785G>C ENSP00000436175.2:p.Val929Leu
ENST00000533334.2:c.*827G>C ENSP00000432320.2:n.*827G>C
ENST00000534228.2:n.4244G>C
ENST00000699354.1:n.887G>C
ENST00000699355.1:c.*1890G>C ENSP00000514328.1:n.*1890G>C
ENST00000699356.1:n.3199G>C
ENST00000699357.1:n.4244G>C
ENST00000699358.1:c.2785G>C ENSP00000514329.1:p.Val929Leu
ENST00000699360.1:c.2785G>C ENSP00000514331.1:p.Val929Leu
ENST00000525621.6:c.2785G>C MANE Select ENSP00000431885.1:p.Val929Leu
ENST00000264818.10:c.2785G>C ENSP00000264818.6:p.Val929Leu
ENST00000524462.5:c.2230G>C ENSP00000433203.1:p.Val744Leu
ENST00000525621.5:c.2785G>C ENSP00000431885.1:p.Val929Leu
ENST00000527481.2:c.81G>C
ENST00000529412.1:n.457G>C
ENST00000530560.5:c.214G>C ENSP00000465291.1:p.Val72Leu
NM_003331.4:c.2785G>C , LRG_121t1:c.2785G>C NP_003322.3:p.Val929Leu
XM_011528245.1:c.2785G>C XP_011526547.1:p.Val929Leu
XM_011528246.1:c.2488G>C XP_011526548.1:p.Val830Leu
XM_011528247.1:c.2488G>C XP_011526549.1:p.Val830Leu
XM_011528248.1:c.2785G>C XP_011526550.1:p.Val929Leu
XM_011528249.1:c.1459G>C XP_011526551.1:p.Val487Leu
XM_011528251.1:c.1042G>C XP_011526553.1:p.Val348Leu
XM_011528246.3:c.2488G>C XP_011526548.1:p.Val830Leu
XM_011528249.2:c.1459G>C XP_011526551.1:p.Val487Leu
XR_001753750.1:n.2942G>C
XR_001753751.1:n.2942G>C
XR_002958353.1:n.3868G>C
NM_003331.5:c.2785G>C MANE Select NP_003322.3:p.Val929Leu
NM_001385197.1:c.2785G>C NP_001372126.1:p.Val929Leu
NM_001385198.1:c.2785G>C NP_001372127.1:p.Val929Leu
NM_001385199.1:c.2599G>C NP_001372128.1:p.Val867Leu
NM_001385200.1:c.2782G>C NP_001372129.1:p.Val928Leu
NM_001385201.1:c.2587G>C NP_001372130.1:p.Val863Leu
NM_001385202.1:c.2701G>C NP_001372131.1:p.Val901Leu
NM_001385203.1:c.2866G>C NP_001372132.1:p.Val956Leu
NM_001385204.1:c.2995G>C NP_001372133.1:p.Val999Leu
NM_001385205.1:c.2695G>C NP_001372134.1:p.Val899Leu
NM_001385206.1:c.2659G>C NP_001372135.1:p.Val887Leu
NM_001385207.1:c.2767G>C NP_001372136.1:p.Val923Leu