Canonical Allele Identifier: CA403988087

Gene: TYK2

Linked Data

• dbSNP Id: rs1446271264
• gnomAD v2: 19-10464787-C-T
• MyVariant Identifiers: chr19:g.10464787C>T (hg19) ; chr19:g.10354111C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10354111C>T , CM000681.2:g.10354111C>T	GRCh38
NC_000019.9:g.10464787C>T , CM000681.1:g.10464787C>T	GRCh37
NC_000019.8:g.10325787C>T	NCBI36
NG_007872.1:g.31462G>A , LRG_121:g.31462G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1188G>A	ENSP00000514307.1:n.*1188G>A
ENST00000525976.6:c.2839G>A	ENSP00000434831.2:p.Glu947Lys
ENST00000527481.3:c.2839G>A	ENSP00000466340.2:p.Glu947Lys
ENST00000529370.6:n.4215G>A
ENST00000529739.2:n.3253G>A
ENST00000530829.2:c.*2390G>A	ENSP00000436826.2:n.*2390G>A
ENST00000531836.6:c.2839G>A	ENSP00000436175.2:p.Glu947Lys
ENST00000533334.2:c.*881G>A	ENSP00000432320.2:n.*881G>A
ENST00000534228.2:n.4298G>A
ENST00000699354.1:n.941G>A
ENST00000699355.1:c.*1944G>A	ENSP00000514328.1:n.*1944G>A
ENST00000699356.1:n.3253G>A
ENST00000699357.1:n.4298G>A
ENST00000699358.1:c.2839G>A	ENSP00000514329.1:p.Glu947Lys
ENST00000699359.1:c.45G>A
ENST00000699360.1:c.2839G>A	ENSP00000514331.1:p.Glu947Lys
ENST00000699368.1:c.43G>A	ENSP00000514335.1:p.Glu15Lys
ENST00000525621.6:c.2839G>A MANE Select	ENSP00000431885.1:p.Glu947Lys
ENST00000264818.10:c.2839G>A	ENSP00000264818.6:p.Glu947Lys
ENST00000524462.5:c.2284G>A	ENSP00000433203.1:p.Glu762Lys
ENST00000525621.5:c.2839G>A	ENSP00000431885.1:p.Glu947Lys
ENST00000527481.2:c.135G>A
ENST00000529412.1:n.511G>A
ENST00000530560.5:c.268G>A	ENSP00000465291.1:p.Glu90Lys
NM_003331.4:c.2839G>A , LRG_121t1:c.2839G>A	NP_003322.3:p.Glu947Lys
XM_011528245.1:c.2839G>A	XP_011526547.1:p.Glu947Lys
XM_011528246.1:c.2542G>A	XP_011526548.1:p.Glu848Lys
XM_011528247.1:c.2542G>A	XP_011526549.1:p.Glu848Lys
XM_011528248.1:c.2839G>A	XP_011526550.1:p.Glu947Lys
XM_011528249.1:c.1513G>A	XP_011526551.1:p.Glu505Lys
XM_011528251.1:c.1096G>A	XP_011526553.1:p.Glu366Lys
XM_011528246.3:c.2542G>A	XP_011526548.1:p.Glu848Lys
XM_011528249.2:c.1513G>A	XP_011526551.1:p.Glu505Lys
XR_001753750.1:n.2996G>A
XR_001753751.1:n.2996G>A
XR_002958353.1:n.3922G>A
NM_003331.5:c.2839G>A MANE Select	NP_003322.3:p.Glu947Lys
NM_001385197.1:c.2839G>A	NP_001372126.1:p.Glu947Lys
NM_001385198.1:c.2839G>A	NP_001372127.1:p.Glu947Lys
NM_001385199.1:c.2653G>A	NP_001372128.1:p.Glu885Lys
NM_001385200.1:c.2836G>A	NP_001372129.1:p.Glu946Lys
NM_001385201.1:c.2641G>A	NP_001372130.1:p.Glu881Lys
NM_001385202.1:c.2755G>A	NP_001372131.1:p.Glu919Lys
NM_001385203.1:c.2920G>A	NP_001372132.1:p.Glu974Lys
NM_001385204.1:c.3049G>A	NP_001372133.1:p.Glu1017Lys
NM_001385205.1:c.2749G>A	NP_001372134.1:p.Glu917Lys
NM_001385206.1:c.2713G>A	NP_001372135.1:p.Glu905Lys
NM_001385207.1:c.2821G>A	NP_001372136.1:p.Glu941Lys