Canonical Allele Identifier: CA403996427
Gene: TYK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10358023A>C , CM000681.2:g.10358023A>C GRCh38
NC_000019.9:g.10468699A>C , CM000681.1:g.10468699A>C GRCh37
NC_000019.8:g.10329699A>C NCBI36
NG_007872.1:g.27550T>G , LRG_121:g.27550T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524470.2:c.*640T>G ENSP00000514307.1:n.*640T>G
ENST00000525976.6:c.2291T>G ENSP00000434831.2:p.Leu764Arg
ENST00000527481.3:c.2291T>G ENSP00000466340.2:p.Leu764Arg
ENST00000529370.6:n.2622T>G
ENST00000529739.2:n.2705T>G
ENST00000530829.2:c.*1842T>G ENSP00000436826.2:n.*1842T>G
ENST00000531836.6:c.2291T>G ENSP00000436175.2:p.Leu764Arg
ENST00000533334.2:c.*333T>G ENSP00000432320.2:n.*333T>G
ENST00000534228.2:n.2705T>G
ENST00000699354.1:n.393T>G
ENST00000699355.1:c.*351T>G ENSP00000514328.1:n.*351T>G
ENST00000699356.1:n.2705T>G
ENST00000699357.1:n.2705T>G
ENST00000699358.1:c.2291T>G ENSP00000514329.1:p.Leu764Arg
ENST00000699360.1:c.2291T>G ENSP00000514331.1:p.Leu764Arg
ENST00000525621.6:c.2291T>G MANE Select ENSP00000431885.1:p.Leu764Arg
ENST00000264818.10:c.2291T>G ENSP00000264818.6:p.Leu764Arg
ENST00000524462.5:c.1736T>G ENSP00000433203.1:p.Leu579Arg
ENST00000525621.5:c.2291T>G ENSP00000431885.1:p.Leu764Arg
ENST00000529370.5:c.2291T>G ENSP00000432728.1:p.Leu764Arg
ENST00000533334.1:c.580T>G
NM_003331.4:c.2291T>G , LRG_121t1:c.2291T>G NP_003322.3:p.Leu764Arg
XM_011528245.1:c.2291T>G XP_011526547.1:p.Leu764Arg
XM_011528246.1:c.1994T>G XP_011526548.1:p.Leu665Arg
XM_011528247.1:c.1994T>G XP_011526549.1:p.Leu665Arg
XM_011528248.1:c.2291T>G XP_011526550.1:p.Leu764Arg
XM_011528249.1:c.965T>G XP_011526551.1:p.Leu322Arg
XM_011528251.1:c.548T>G XP_011526553.1:p.Leu183Arg
XM_011528246.3:c.1994T>G XP_011526548.1:p.Leu665Arg
XM_011528249.2:c.965T>G XP_011526551.1:p.Leu322Arg
XR_001753750.1:n.2448T>G
XR_001753751.1:n.2448T>G
XR_001753752.1:n.2560T>G
XR_002958353.1:n.2329T>G
NM_003331.5:c.2291T>G MANE Select NP_003322.3:p.Leu764Arg
NM_001385197.1:c.2291T>G NP_001372126.1:p.Leu764Arg
NM_001385198.1:c.2291T>G NP_001372127.1:p.Leu764Arg
NM_001385199.1:c.2105T>G NP_001372128.1:p.Leu702Arg
NM_001385200.1:c.2291T>G NP_001372129.1:p.Leu764Arg
NM_001385201.1:c.2093T>G NP_001372130.1:p.Leu698Arg
NM_001385202.1:c.2207T>G NP_001372131.1:p.Leu736Arg
NM_001385203.1:c.2291T>G NP_001372132.1:p.Leu764Arg
NM_001385204.1:c.2291T>G NP_001372133.1:p.Leu764Arg
NM_001385205.1:c.2201T>G NP_001372134.1:p.Leu734Arg
NM_001385206.1:c.2165T>G NP_001372135.1:p.Leu722Arg
NM_001385207.1:c.2273T>G NP_001372136.1:p.Leu758Arg