Canonical Allele Identifier: CA403995230
Gene: TYK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10357790G>C , CM000681.2:g.10357790G>C GRCh38
NC_000019.9:g.10468466G>C , CM000681.1:g.10468466G>C GRCh37
NC_000019.8:g.10329466G>C NCBI36
NG_007872.1:g.27783C>G , LRG_121:g.27783C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524470.2:c.*789C>G ENSP00000514307.1:n.*789C>G
ENST00000525976.6:c.2440C>G ENSP00000434831.2:p.Pro814Ala
ENST00000527481.3:c.2440C>G ENSP00000466340.2:p.Pro814Ala
ENST00000529370.6:n.2771C>G
ENST00000529739.2:n.2854C>G
ENST00000530829.2:c.*1991C>G ENSP00000436826.2:n.*1991C>G
ENST00000531836.6:c.2440C>G ENSP00000436175.2:p.Pro814Ala
ENST00000533334.2:c.*482C>G ENSP00000432320.2:n.*482C>G
ENST00000534228.2:n.2854C>G
ENST00000699354.1:n.542C>G
ENST00000699355.1:c.*500C>G ENSP00000514328.1:n.*500C>G
ENST00000699356.1:n.2854C>G
ENST00000699357.1:n.2854C>G
ENST00000699358.1:c.2440C>G ENSP00000514329.1:p.Pro814Ala
ENST00000699360.1:c.2440C>G ENSP00000514331.1:p.Pro814Ala
ENST00000525621.6:c.2440C>G MANE Select ENSP00000431885.1:p.Pro814Ala
ENST00000264818.10:c.2440C>G ENSP00000264818.6:p.Pro814Ala
ENST00000524462.5:c.1885C>G ENSP00000433203.1:p.Pro629Ala
ENST00000525621.5:c.2440C>G ENSP00000431885.1:p.Pro814Ala
ENST00000529370.5:c.2440C>G ENSP00000432728.1:p.Pro814Ala
ENST00000529412.1:n.112C>G
NM_003331.4:c.2440C>G , LRG_121t1:c.2440C>G NP_003322.3:p.Pro814Ala
XM_011528245.1:c.2440C>G XP_011526547.1:p.Pro814Ala
XM_011528246.1:c.2143C>G XP_011526548.1:p.Pro715Ala
XM_011528247.1:c.2143C>G XP_011526549.1:p.Pro715Ala
XM_011528248.1:c.2440C>G XP_011526550.1:p.Pro814Ala
XM_011528249.1:c.1114C>G XP_011526551.1:p.Pro372Ala
XM_011528251.1:c.697C>G XP_011526553.1:p.Pro233Ala
XM_011528246.3:c.2143C>G XP_011526548.1:p.Pro715Ala
XM_011528249.2:c.1114C>G XP_011526551.1:p.Pro372Ala
XR_001753750.1:n.2597C>G
XR_001753751.1:n.2597C>G
XR_002958353.1:n.2478C>G
NM_003331.5:c.2440C>G MANE Select NP_003322.3:p.Pro814Ala
NM_001385197.1:c.2440C>G NP_001372126.1:p.Pro814Ala
NM_001385198.1:c.2440C>G NP_001372127.1:p.Pro814Ala
NM_001385199.1:c.2254C>G NP_001372128.1:p.Pro752Ala
NM_001385200.1:c.2440C>G NP_001372129.1:p.Pro814Ala
NM_001385201.1:c.2242C>G NP_001372130.1:p.Pro748Ala
NM_001385202.1:c.2356C>G NP_001372131.1:p.Pro786Ala
NM_001385203.1:c.2440C>G NP_001372132.1:p.Pro814Ala
NM_001385204.1:c.2440C>G NP_001372133.1:p.Pro814Ala
NM_001385205.1:c.2350C>G NP_001372134.1:p.Pro784Ala
NM_001385206.1:c.2314C>G NP_001372135.1:p.Pro772Ala
NM_001385207.1:c.2422C>G NP_001372136.1:p.Pro808Ala