Canonical Allele Identifier: CA403983353

Gene: TYK2

Linked Data

• gnomAD v4: 19-10352549-T-A
• MyVariant Identifiers: chr19:g.10463225T>A (hg19) ; chr19:g.10352549T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352549T>A , CM000681.2:g.10352549T>A	GRCh38
NC_000019.9:g.10463225T>A , CM000681.1:g.10463225T>A	GRCh37
NC_000019.8:g.10324225T>A	NCBI36
NG_007872.1:g.33024A>T , LRG_121:g.33024A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1552A>T	ENSP00000514307.1:n.*1552A>T
ENST00000525976.6:c.3203A>T	ENSP00000434831.2:p.Tyr1068Phe
ENST00000527481.3:c.3084A>T	ENSP00000466340.2:p.Val1028=
ENST00000529370.6:n.4579A>T
ENST00000529739.2:n.4012A>T
ENST00000530829.2:c.*2754A>T	ENSP00000436826.2:n.*2754A>T
ENST00000531836.6:c.3203A>T	ENSP00000436175.2:p.Tyr1068Phe
ENST00000533334.2:c.*1242+377A>T	ENSP00000432320.2:n.*1242+377A>T
ENST00000534228.2:n.5054+377A>T
ENST00000699354.1:n.1305A>T
ENST00000699355.1:c.*2703A>T	ENSP00000514328.1:n.*2703A>T
ENST00000699356.1:n.4012A>T
ENST00000699357.1:n.5057A>T
ENST00000699358.1:c.3200+377A>T	ENSP00000514329.1:n.3200+377A>T
ENST00000699359.1:c.377A>T
ENST00000699360.1:c.3161A>T	ENSP00000514331.1:p.Tyr1054Phe
ENST00000699361.1:n.237A>T
ENST00000699362.1:c.99A>T	ENSP00000514332.1:p.Val33=
ENST00000699363.1:c.99A>T	ENSP00000514333.1:p.Val33=
ENST00000699364.1:n.203A>T
ENST00000699365.1:c.272A>T	ENSP00000514334.1:p.Tyr91Phe
ENST00000699366.1:n.111+1265A>T
ENST00000699367.1:n.111+1265A>T
ENST00000699368.1:c.690A>T	ENSP00000514335.1:n.690A>T
ENST00000525621.6:c.3203A>T MANE Select	ENSP00000431885.1:p.Tyr1068Phe
ENST00000264818.10:c.3203A>T	ENSP00000264818.6:p.Tyr1068Phe
ENST00000524462.5:c.2648A>T	ENSP00000433203.1:p.Tyr883Phe
ENST00000525621.5:c.3203A>T	ENSP00000431885.1:p.Tyr1068Phe
ENST00000527481.2:c.380A>T
ENST00000529422.1:n.116+473A>T
ENST00000529739.1:c.272A>T	ENSP00000436155.1:p.Tyr91Phe
ENST00000530220.1:n.331+377A>T
ENST00000530560.5:c.337+1493A>T	ENSP00000465291.1:n.337+1493A>T
ENST00000592137.1:n.357A>T
NM_003331.4:c.3203A>T , LRG_121t1:c.3203A>T	NP_003322.3:p.Tyr1068Phe
XM_011528245.1:c.3203A>T	XP_011526547.1:p.Tyr1068Phe
XM_011528246.1:c.2906A>T	XP_011526548.1:p.Tyr969Phe
XM_011528247.1:c.2906A>T	XP_011526549.1:p.Tyr969Phe
XM_011528248.1:c.3200+377A>T	XP_011526550.1:n.3200+377A>T
XM_011528249.1:c.1877A>T	XP_011526551.1:p.Tyr626Phe
XM_011528251.1:c.1460A>T	XP_011526553.1:p.Tyr487Phe
XM_011528246.3:c.2906A>T	XP_011526548.1:p.Tyr969Phe
XM_011528249.2:c.1877A>T	XP_011526551.1:p.Tyr626Phe
XR_001753750.1:n.3357+377A>T
XR_001753751.1:n.3755A>T
XR_002958353.1:n.4681A>T
NM_003331.5:c.3203A>T MANE Select	NP_003322.3:p.Tyr1068Phe
NM_001385197.1:c.3203A>T	NP_001372126.1:p.Tyr1068Phe
NM_001385198.1:c.3168+409A>T	NP_001372127.1:n.3168+409A>T
NM_001385199.1:c.3017A>T	NP_001372128.1:p.Tyr1006Phe
NM_001385200.1:c.3200A>T	NP_001372129.1:p.Tyr1067Phe
NM_001385201.1:c.3005A>T	NP_001372130.1:p.Tyr1002Phe
NM_001385202.1:c.3119A>T	NP_001372131.1:p.Tyr1040Phe
NM_001385203.1:c.3284A>T	NP_001372132.1:p.Tyr1095Phe
NM_001385204.1:c.3413A>T	NP_001372133.1:p.Tyr1138Phe
NM_001385205.1:c.3113A>T	NP_001372134.1:p.Tyr1038Phe
NM_001385206.1:c.3077A>T	NP_001372135.1:p.Tyr1026Phe
NM_001385207.1:c.3185A>T	NP_001372136.1:p.Tyr1062Phe