Canonical Allele Identifier: CA9193810
Gene: TYK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 225508
dbSNP Id: rs770927552

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10368403_10368406del , CM000681.2:g.10368403_10368406del GRCh38
NC_000019.9:g.10479079_10479082del , CM000681.1:g.10479079_10479082del GRCh37
NC_000019.8:g.10340079_10340082del NCBI36
NG_007872.1:g.17170_17173del , LRG_121:g.17170_17173del

Transcript Alleles

HGVS Amino-acid change
ENST00000524470.2:c.209_212del ENSP00000514307.1:p.Cys70SerfsTer21
ENST00000525976.6:c.209_212del ENSP00000434831.2:p.Cys70SerfsTer21
ENST00000527481.3:c.209_212del ENSP00000466340.2:p.Cys70SerfsTer21
ENST00000529370.6:n.540_543del
ENST00000529739.2:n.623_626del
ENST00000530829.2:c.330_333del ENSP00000436826.2:p.Leu110PhefsTer?
ENST00000531836.6:c.209_212del ENSP00000436175.2:p.Cys70SerfsTer21
ENST00000533334.2:c.209_212del ENSP00000432320.2:p.Cys70SerfsTer21
ENST00000534228.2:n.623_626del
ENST00000699355.1:c.209_212del ENSP00000514328.1:p.Cys70SerfsTer21
ENST00000699356.1:n.623_626del
ENST00000699357.1:n.623_626del
ENST00000699358.1:c.209_212del ENSP00000514329.1:p.Cys70SerfsTer21
ENST00000699360.1:c.209_212del ENSP00000514331.1:p.Cys70SerfsTer21
ENST00000699369.1:n.552_555del
ENST00000699370.1:n.574_577del
ENST00000699371.1:c.209_212del ENSP00000514336.1:p.Cys70SerfsTer21
ENST00000525621.6:c.209_212del MANE Select ENSP00000431885.1:p.Cys70SerfsTer21
ENST00000264818.10:c.209_212del ENSP00000264818.6:p.Cys70SerfsTer21
ENST00000524462.5:c.-90-1823_-90-1820del ENSP00000433203.1:n.-90-1823_-90-1820del
ENST00000525621.5:c.209_212del ENSP00000431885.1:p.Cys70SerfsTer21
ENST00000525824.1:c.154-32_154-29del ENSP00000467288.1:n.154-32_154-29del
ENST00000529317.1:n.137_140del
ENST00000529370.5:c.209_212del ENSP00000432728.1:p.Cys70SerfsTer21
ENST00000530829.1:c.330_333del ENSP00000436826.1:p.Leu110PhefsTer?
ENST00000531836.5:c.209_212del ENSP00000436175.1:p.Cys70SerfsTer21
NM_003331.4:c.209_212del , LRG_121t1:c.209_212del NP_003322.3:p.Cys70SerfsTer21
XM_011528245.1:c.209_212del XP_011526547.1:p.Cys70SerfsTer21
XM_011528246.1:c.-89_-86del XP_011526548.1:n.-89_-86del
XM_011528247.1:c.-89_-86del XP_011526549.1:n.-89_-86del
XM_011528248.1:c.209_212del XP_011526550.1:p.Cys70SerfsTer21
XM_011528250.1:c.209_212del XP_011526552.1:p.Cys70SerfsTer21
XM_011528252.1:c.209_212del XP_011526554.1:p.Cys70SerfsTer21
XM_011528246.3:c.-89_-86del XP_011526548.1:n.-89_-86del
XR_001753750.1:n.366_369del
XR_001753751.1:n.366_369del
XR_001753752.1:n.366_369del
XR_002958353.1:n.366_369del
NM_003331.5:c.209_212del MANE Select NP_003322.3:p.Cys70SerfsTer21
NM_001385197.1:c.209_212del NP_001372126.1:p.Cys70SerfsTer21
NM_001385198.1:c.209_212del NP_001372127.1:p.Cys70SerfsTer21
NM_001385199.1:c.209_212del NP_001372128.1:p.Cys70SerfsTer21
NM_001385200.1:c.209_212del NP_001372129.1:p.Cys70SerfsTer21
NM_001385201.1:c.209_212del NP_001372130.1:p.Cys70SerfsTer21
NM_001385202.1:c.209_212del NP_001372131.1:p.Cys70SerfsTer21
NM_001385203.1:c.209_212del NP_001372132.1:p.Cys70SerfsTer21
NM_001385204.1:c.209_212del NP_001372133.1:p.Cys70SerfsTer21
NM_001385205.1:c.209_212del NP_001372134.1:p.Cys70SerfsTer21
NM_001385206.1:c.209_212del NP_001372135.1:p.Cys70SerfsTer21
NM_001385207.1:c.209_212del NP_001372136.1:p.Cys70SerfsTer21