Canonical Allele Identifier: CA404003122
Gene: TYK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10361922C>G , CM000681.2:g.10361922C>G GRCh38
NC_000019.9:g.10472598C>G , CM000681.1:g.10472598C>G GRCh37
NC_000019.8:g.10333598C>G NCBI36
NG_007872.1:g.23651G>C , LRG_121:g.23651G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524470.2:c.*156G>C ENSP00000514307.1:n.*156G>C
ENST00000525976.6:c.1807G>C ENSP00000434831.2:p.Val603Leu
ENST00000527481.3:c.1807G>C ENSP00000466340.2:p.Val603Leu
ENST00000529370.6:n.2138G>C
ENST00000529739.2:n.2221G>C
ENST00000530829.2:c.*1358G>C ENSP00000436826.2:n.*1358G>C
ENST00000531836.6:c.1807G>C ENSP00000436175.2:p.Val603Leu
ENST00000533334.2:c.1807G>C ENSP00000432320.2:p.Val603Leu
ENST00000534228.2:n.2221G>C
ENST00000699355.1:c.1774-86G>C ENSP00000514328.1:n.1774-86G>C
ENST00000699356.1:n.2221G>C
ENST00000699357.1:n.2221G>C
ENST00000699358.1:c.1807G>C ENSP00000514329.1:p.Val603Leu
ENST00000699360.1:c.1807G>C ENSP00000514331.1:p.Val603Leu
ENST00000525621.6:c.1807G>C MANE Select ENSP00000431885.1:p.Val603Leu
ENST00000264818.10:c.1807G>C ENSP00000264818.6:p.Val603Leu
ENST00000524462.5:c.1252G>C ENSP00000433203.1:p.Val418Leu
ENST00000525621.5:c.1807G>C ENSP00000431885.1:p.Val603Leu
ENST00000529370.5:c.1807G>C ENSP00000432728.1:p.Val603Leu
ENST00000531620.1:n.140G>C
NM_003331.4:c.1807G>C , LRG_121t1:c.1807G>C NP_003322.3:p.Val603Leu
XM_011528245.1:c.1807G>C XP_011526547.1:p.Val603Leu
XM_011528246.1:c.1510G>C XP_011526548.1:p.Val504Leu
XM_011528247.1:c.1510G>C XP_011526549.1:p.Val504Leu
XM_011528248.1:c.1807G>C XP_011526550.1:p.Val603Leu
XM_011528249.1:c.481G>C XP_011526551.1:p.Val161Leu
XM_011528250.1:c.1807G>C XP_011526552.1:p.Val603Leu
XM_011528251.1:c.150-86G>C XP_011526553.1:n.150-86G>C
XM_011528252.1:c.1774-86G>C XP_011526554.1:n.1774-86G>C
XM_011528246.3:c.1510G>C XP_011526548.1:p.Val504Leu
XM_011528249.2:c.481G>C XP_011526551.1:p.Val161Leu
XR_001753750.1:n.1964G>C
XR_001753751.1:n.1964G>C
XR_001753752.1:n.1964G>C
XR_002958353.1:n.1931-86G>C
NM_003331.5:c.1807G>C MANE Select NP_003322.3:p.Val603Leu
NM_001385197.1:c.1807G>C NP_001372126.1:p.Val603Leu
NM_001385198.1:c.1807G>C NP_001372127.1:p.Val603Leu
NM_001385199.1:c.1773+156G>C NP_001372128.1:n.1773+156G>C
NM_001385200.1:c.1807G>C NP_001372129.1:p.Val603Leu
NM_001385201.1:c.1609G>C NP_001372130.1:p.Val537Leu
NM_001385202.1:c.1807G>C NP_001372131.1:p.Val603Leu
NM_001385203.1:c.1807G>C NP_001372132.1:p.Val603Leu
NM_001385204.1:c.1807G>C NP_001372133.1:p.Val603Leu
NM_001385205.1:c.1717G>C NP_001372134.1:p.Val573Leu
NM_001385206.1:c.1681G>C NP_001372135.1:p.Val561Leu
NM_001385207.1:c.1789G>C NP_001372136.1:p.Val597Leu