Canonical Allele Identifier: CA505476513
Gene: TYK2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.10472583G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10361907G>A , CM000681.2:g.10361907G>A GRCh38
NC_000019.9:g.10472583G>A , CM000681.1:g.10472583G>A GRCh37
NC_000019.8:g.10333583G>A NCBI36
NG_007872.1:g.23666C>T , LRG_121:g.23666C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000524470.2:c.*171C>T ENSP00000514307.1:n.*171C>T
ENST00000525976.6:c.1822C>T ENSP00000434831.2:p.Leu608=
ENST00000527481.3:c.1822C>T ENSP00000466340.2:p.Leu608=
ENST00000529370.6:n.2153C>T
ENST00000529739.2:n.2236C>T
ENST00000530829.2:c.*1373C>T ENSP00000436826.2:n.*1373C>T
ENST00000531836.6:c.1822C>T ENSP00000436175.2:p.Leu608=
ENST00000533334.2:c.1822C>T ENSP00000432320.2:p.Leu608=
ENST00000534228.2:n.2236C>T
ENST00000699355.1:c.1774-71C>T ENSP00000514328.1:n.1774-71C>T
ENST00000699356.1:n.2236C>T
ENST00000699357.1:n.2236C>T
ENST00000699358.1:c.1822C>T ENSP00000514329.1:p.Leu608=
ENST00000699360.1:c.1822C>T ENSP00000514331.1:p.Leu608=
ENST00000525621.6:c.1822C>T MANE Select ENSP00000431885.1:p.Leu608=
ENST00000264818.10:c.1822C>T ENSP00000264818.6:p.Leu608=
ENST00000524462.5:c.1267C>T ENSP00000433203.1:p.Leu423=
ENST00000525621.5:c.1822C>T ENSP00000431885.1:p.Leu608=
ENST00000529370.5:c.1822C>T ENSP00000432728.1:p.Leu608=
ENST00000531620.1:n.155C>T
NM_003331.4:c.1822C>T , LRG_121t1:c.1822C>T NP_003322.3:p.Leu608=
XM_011528245.1:c.1822C>T XP_011526547.1:p.Leu608=
XM_011528246.1:c.1525C>T XP_011526548.1:p.Leu509=
XM_011528247.1:c.1525C>T XP_011526549.1:p.Leu509=
XM_011528248.1:c.1822C>T XP_011526550.1:p.Leu608=
XM_011528249.1:c.496C>T XP_011526551.1:p.Leu166=
XM_011528250.1:c.1822C>T XP_011526552.1:p.Leu608=
XM_011528251.1:c.150-71C>T XP_011526553.1:n.150-71C>T
XM_011528252.1:c.1774-71C>T XP_011526554.1:n.1774-71C>T
XM_011528246.3:c.1525C>T XP_011526548.1:p.Leu509=
XM_011528249.2:c.496C>T XP_011526551.1:p.Leu166=
XR_001753750.1:n.1979C>T
XR_001753751.1:n.1979C>T
XR_001753752.1:n.1979C>T
XR_002958353.1:n.1931-71C>T
NM_003331.5:c.1822C>T MANE Select NP_003322.3:p.Leu608=
NM_001385197.1:c.1822C>T NP_001372126.1:p.Leu608=
NM_001385198.1:c.1822C>T NP_001372127.1:p.Leu608=
NM_001385199.1:c.1773+171C>T NP_001372128.1:n.1773+171C>T
NM_001385200.1:c.1822C>T NP_001372129.1:p.Leu608=
NM_001385201.1:c.1624C>T NP_001372130.1:p.Leu542=
NM_001385202.1:c.1808+14C>T NP_001372131.1:n.1808+14C>T
NM_001385203.1:c.1822C>T NP_001372132.1:p.Leu608=
NM_001385204.1:c.1822C>T NP_001372133.1:p.Leu608=
NM_001385205.1:c.1732C>T NP_001372134.1:p.Leu578=
NM_001385206.1:c.1696C>T NP_001372135.1:p.Leu566=
NM_001385207.1:c.1804C>T NP_001372136.1:p.Leu602=