Canonical Allele Identifier: CA2322391699
Gene: TYK2 HGNC NCBI

Linked Data

dbSNP Id: rs2041416478

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10361775del , CM000681.2:g.10361775del GRCh38
NC_000019.9:g.10472451del , CM000681.1:g.10472451del GRCh37
NC_000019.8:g.10333451del NCBI36
NG_007872.1:g.23798del , LRG_121:g.23798del

Transcript Alleles

HGVS Amino-acid Change
ENST00000524470.2:c.*303del ENSP00000514307.1:n.*303del
ENST00000525976.6:c.1954del ENSP00000434831.2:p.Ala652ProfsTer11
ENST00000527481.3:c.1954del ENSP00000466340.2:p.Ala652ProfsTer11
ENST00000529370.6:n.2285del
ENST00000529739.2:n.2368del
ENST00000530829.2:c.*1505del ENSP00000436826.2:n.*1505del
ENST00000531836.6:c.1954del ENSP00000436175.2:p.Ala652ProfsTer11
ENST00000533334.2:c.1954del ENSP00000432320.2:p.Ala652ProfsTer11
ENST00000534228.2:n.2368del
ENST00000699355.1:c.*14del ENSP00000514328.1:n.*14del
ENST00000699356.1:n.2368del
ENST00000699357.1:n.2368del
ENST00000699358.1:c.1954del ENSP00000514329.1:p.Ala652ProfsTer11
ENST00000699360.1:c.1954del ENSP00000514331.1:p.Ala652ProfsTer11
ENST00000525621.6:c.1954del MANE Select ENSP00000431885.1:p.Ala652ProfsTer11
ENST00000264818.10:c.1954del ENSP00000264818.6:p.Ala652ProfsTer11
ENST00000524462.5:c.1399del ENSP00000433203.1:p.Ala467ProfsTer11
ENST00000525621.5:c.1954del ENSP00000431885.1:p.Ala652ProfsTer11
ENST00000529370.5:c.1954del ENSP00000432728.1:p.Ala652ProfsTer11
ENST00000531620.1:n.287del
ENST00000533334.1:c.131del
NM_003331.4:c.1954del , LRG_121t1:c.1954del NP_003322.3:p.Ala652ProfsTer11
XM_011528245.1:c.1954del XP_011526547.1:p.Ala652ProfsTer11
XM_011528246.1:c.1657del XP_011526548.1:p.Ala553ProfsTer11
XM_011528247.1:c.1657del XP_011526549.1:p.Ala553ProfsTer11
XM_011528248.1:c.1954del XP_011526550.1:p.Ala652ProfsTer11
XM_011528249.1:c.628del XP_011526551.1:p.Ala210ProfsTer11
XM_011528250.1:c.1954del XP_011526552.1:p.Ala652ProfsTer11
XM_011528251.1:c.211del XP_011526553.1:p.Ala71ProfsTer11
XM_011528252.1:c.*14del XP_011526554.1:n.*14del
XM_011528246.3:c.1657del XP_011526548.1:p.Ala553ProfsTer11
XM_011528249.2:c.628del XP_011526551.1:p.Ala210ProfsTer11
XR_001753750.1:n.2111del
XR_001753751.1:n.2111del
XR_001753752.1:n.2111del
XR_002958353.1:n.1992del
NM_003331.5:c.1954del MANE Select NP_003322.3:p.Ala652ProfsTer11
NM_001385197.1:c.1954del NP_001372126.1:p.Ala652ProfsTer11
NM_001385198.1:c.1954del NP_001372127.1:p.Ala652ProfsTer11
NM_001385199.1:c.1774-177del NP_001372128.1:n.1774-177del
NM_001385200.1:c.1954del NP_001372129.1:p.Ala652ProfsTer11
NM_001385201.1:c.1756del NP_001372130.1:p.Ala586ProfsTer11
NM_001385202.1:c.1870del NP_001372131.1:p.Ala624ProfsTer11
NM_001385203.1:c.1954del NP_001372132.1:p.Ala652ProfsTer11
NM_001385204.1:c.1954del NP_001372133.1:p.Ala652ProfsTer11
NM_001385205.1:c.1864del NP_001372134.1:p.Ala622ProfsTer11
NM_001385206.1:c.1828del NP_001372135.1:p.Ala610ProfsTer11
NM_001385207.1:c.1936del NP_001372136.1:p.Ala646ProfsTer11