Canonical Allele Identifier: CA2322391714
Community Standard Title: NM_003331.5(TYK2):c.1912C= (p.Arg638=)
Gene: TYK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10361817G= , CM000681.2:g.10361817G= GRCh38
NC_000019.9:g.10472493G= , CM000681.1:g.10472493G= GRCh37
NC_000019.8:g.10333493G= NCBI36
NG_007872.1:g.23756C= , LRG_121:g.23756C=

Transcript Alleles

HGVS Amino-acid Change
NM_003331.5:c.1912C= MANE Select NP_003322.3:p.Arg638=
ENST00000525621.6:c.1912C= MANE Select ENSP00000431885.1:p.Arg638=
NM_001385197.1:c.1912C= NP_001372126.1:p.Arg638=
NM_001385198.1:c.1912C= NP_001372127.1:p.Arg638=
NM_001385199.1:c.1774-219C= NP_001372128.1:n.1774-219C=
NM_001385200.1:c.1912C= NP_001372129.1:p.Arg638=
NM_001385201.1:c.1714C= NP_001372130.1:p.Arg572=
NM_001385202.1:c.1828C= NP_001372131.1:p.Arg610=
NM_001385203.1:c.1912C= NP_001372132.1:p.Arg638=
NM_001385204.1:c.1912C= NP_001372133.1:p.Arg638=
NM_001385205.1:c.1822C= NP_001372134.1:p.Arg608=
NM_001385206.1:c.1786C= NP_001372135.1:p.Arg596=
NM_001385207.1:c.1894C= NP_001372136.1:p.Arg632=
NM_003331.4:c.1912C= , LRG_121t1:c.1912C= NP_003322.3:p.Arg638=
ENST00000264818.10:c.1912C= ENSP00000264818.6:p.Arg638=
ENST00000524462.5:c.1357C= ENSP00000433203.1:p.Arg453=
ENST00000524470.2:c.*261C= ENSP00000514307.1:n.*261C=
ENST00000525621.5:c.1912C= ENSP00000431885.1:p.Arg638=
ENST00000525976.6:c.1912C= ENSP00000434831.2:p.Arg638=
ENST00000527481.3:c.1912C= ENSP00000466340.2:p.Arg638=
ENST00000529370.5:c.1912C= ENSP00000432728.1:p.Arg638=
ENST00000529370.6:n.2243C=
ENST00000529739.2:n.2326C=
ENST00000530829.2:c.*1463C= ENSP00000436826.2:n.*1463C=
ENST00000531620.1:n.245C=
ENST00000531836.6:c.1912C= ENSP00000436175.2:p.Arg638=
ENST00000533334.1:c.89C=
ENST00000533334.2:c.1912C= ENSP00000432320.2:p.Arg638=
ENST00000534228.2:n.2326C=
ENST00000699355.1:c.1793C= ENSP00000514328.1:p.Thr598=
ENST00000699356.1:n.2326C=
ENST00000699357.1:n.2326C=
ENST00000699358.1:c.1912C= ENSP00000514329.1:p.Arg638=
ENST00000699360.1:c.1912C= ENSP00000514331.1:p.Arg638=
XM_011528245.1:c.1912C= XP_011526547.1:p.Arg638=
XM_011528246.1:c.1615C= XP_011526548.1:p.Arg539=
XM_011528246.3:c.1615C= XP_011526548.1:p.Arg539=
XM_011528247.1:c.1615C= XP_011526549.1:p.Arg539=
XM_011528248.1:c.1912C= XP_011526550.1:p.Arg638=
XM_011528249.1:c.586C= XP_011526551.1:p.Arg196=
XM_011528249.2:c.586C= XP_011526551.1:p.Arg196=
XM_011528250.1:c.1912C= XP_011526552.1:p.Arg638=
XM_011528251.1:c.169C= XP_011526553.1:p.Arg57=
XM_011528252.1:c.1793C= XP_011526554.1:p.Thr598=
XR_001753750.1:n.2069C=
XR_001753751.1:n.2069C=
XR_001753752.1:n.2069C=
XR_002958353.1:n.1950C=