Canonical Allele Identifier: CA2322388035
Community Standard Title: NM_003331.5(TYK2):c.2783C= (p.Ala928=)
Gene: TYK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10354167G= , CM000681.2:g.10354167G= GRCh38
NC_000019.9:g.10464843G= , CM000681.1:g.10464843G= GRCh37
NC_000019.8:g.10325843G= NCBI36
NG_007872.1:g.31406C= , LRG_121:g.31406C=

Transcript Alleles

HGVS Amino-acid Change
NM_003331.5:c.2783C= MANE Select NP_003322.3:p.Ala928=
ENST00000525621.6:c.2783C= MANE Select ENSP00000431885.1:p.Ala928=
NM_001385197.1:c.2783C= NP_001372126.1:p.Ala928=
NM_001385198.1:c.2783C= NP_001372127.1:p.Ala928=
NM_001385199.1:c.2597C= NP_001372128.1:p.Ala866=
NM_001385200.1:c.2780C= NP_001372129.1:p.Ala927=
NM_001385201.1:c.2585C= NP_001372130.1:p.Ala862=
NM_001385202.1:c.2699C= NP_001372131.1:p.Ala900=
NM_001385203.1:c.2864C= NP_001372132.1:p.Ala955=
NM_001385204.1:c.2993C= NP_001372133.1:p.Ala998=
NM_001385205.1:c.2693C= NP_001372134.1:p.Ala898=
NM_001385206.1:c.2657C= NP_001372135.1:p.Ala886=
NM_001385207.1:c.2765C= NP_001372136.1:p.Ala922=
NM_003331.4:c.2783C= , LRG_121t1:c.2783C= NP_003322.3:p.Ala928=
ENST00000264818.10:c.2783C= ENSP00000264818.6:p.Ala928=
ENST00000524462.5:c.2228C= ENSP00000433203.1:p.Ala743=
ENST00000524470.2:c.*1132C= ENSP00000514307.1:n.*1132C=
ENST00000525621.5:c.2783C= ENSP00000431885.1:p.Ala928=
ENST00000525976.6:c.2783C= ENSP00000434831.2:p.Ala928=
ENST00000527481.2:c.79C=
ENST00000527481.3:c.2783C= ENSP00000466340.2:p.Ala928=
ENST00000529370.6:n.4159C=
ENST00000529412.1:n.455C=
ENST00000529739.2:n.3197C=
ENST00000530560.5:c.212C= ENSP00000465291.1:p.Ala71=
ENST00000530829.2:c.*2334C= ENSP00000436826.2:n.*2334C=
ENST00000531836.6:c.2783C= ENSP00000436175.2:p.Ala928=
ENST00000533334.2:c.*825C= ENSP00000432320.2:n.*825C=
ENST00000534228.2:n.4242C=
ENST00000699354.1:n.885C=
ENST00000699355.1:c.*1888C= ENSP00000514328.1:n.*1888C=
ENST00000699356.1:n.3197C=
ENST00000699357.1:n.4242C=
ENST00000699358.1:c.2783C= ENSP00000514329.1:p.Ala928=
ENST00000699360.1:c.2783C= ENSP00000514331.1:p.Ala928=
XM_011528245.1:c.2783C= XP_011526547.1:p.Ala928=
XM_011528246.1:c.2486C= XP_011526548.1:p.Ala829=
XM_011528246.3:c.2486C= XP_011526548.1:p.Ala829=
XM_011528247.1:c.2486C= XP_011526549.1:p.Ala829=
XM_011528248.1:c.2783C= XP_011526550.1:p.Ala928=
XM_011528249.1:c.1457C= XP_011526551.1:p.Ala486=
XM_011528249.2:c.1457C= XP_011526551.1:p.Ala486=
XM_011528251.1:c.1040C= XP_011526553.1:p.Ala347=
XR_001753750.1:n.2940C=
XR_001753751.1:n.2940C=
XR_002958353.1:n.3866C=