Canonical Allele Identifier: CA403989347

Gene: TYK2

Linked Data

• dbSNP Id: rs2040966315
• gnomAD v4: 19-10354228-A-T
• MyVariant Identifiers: chr19:g.10464904A>T (hg19) ; chr19:g.10354228A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10354228A>T , CM000681.2:g.10354228A>T	GRCh38
NC_000019.9:g.10464904A>T , CM000681.1:g.10464904A>T	GRCh37
NC_000019.8:g.10325904A>T	NCBI36
NG_007872.1:g.31345T>A , LRG_121:g.31345T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1071T>A	ENSP00000514307.1:n.*1071T>A
ENST00000525976.6:c.2722T>A	ENSP00000434831.2:p.Phe908Ile
ENST00000527481.3:c.2722T>A	ENSP00000466340.2:p.Phe908Ile
ENST00000529370.6:n.4098T>A
ENST00000529739.2:n.3136T>A
ENST00000530829.2:c.*2273T>A	ENSP00000436826.2:n.*2273T>A
ENST00000531836.6:c.2722T>A	ENSP00000436175.2:p.Phe908Ile
ENST00000533334.2:c.*764T>A	ENSP00000432320.2:n.*764T>A
ENST00000534228.2:n.4181T>A
ENST00000699354.1:n.824T>A
ENST00000699355.1:c.*1827T>A	ENSP00000514328.1:n.*1827T>A
ENST00000699356.1:n.3136T>A
ENST00000699357.1:n.4181T>A
ENST00000699358.1:c.2722T>A	ENSP00000514329.1:p.Phe908Ile
ENST00000699360.1:c.2722T>A	ENSP00000514331.1:p.Phe908Ile
ENST00000525621.6:c.2722T>A MANE Select	ENSP00000431885.1:p.Phe908Ile
ENST00000264818.10:c.2722T>A	ENSP00000264818.6:p.Phe908Ile
ENST00000524462.5:c.2167T>A	ENSP00000433203.1:p.Phe723Ile
ENST00000525621.5:c.2722T>A	ENSP00000431885.1:p.Phe908Ile
ENST00000527481.2:c.18T>A
ENST00000529412.1:n.394T>A
ENST00000530560.5:c.151T>A	ENSP00000465291.1:p.Phe51Ile
NM_003331.4:c.2722T>A , LRG_121t1:c.2722T>A	NP_003322.3:p.Phe908Ile
XM_011528245.1:c.2722T>A	XP_011526547.1:p.Phe908Ile
XM_011528246.1:c.2425T>A	XP_011526548.1:p.Phe809Ile
XM_011528247.1:c.2425T>A	XP_011526549.1:p.Phe809Ile
XM_011528248.1:c.2722T>A	XP_011526550.1:p.Phe908Ile
XM_011528249.1:c.1396T>A	XP_011526551.1:p.Phe466Ile
XM_011528251.1:c.979T>A	XP_011526553.1:p.Phe327Ile
XM_011528246.3:c.2425T>A	XP_011526548.1:p.Phe809Ile
XM_011528249.2:c.1396T>A	XP_011526551.1:p.Phe466Ile
XR_001753750.1:n.2879T>A
XR_001753751.1:n.2879T>A
XR_002958353.1:n.3805T>A
NM_003331.5:c.2722T>A MANE Select	NP_003322.3:p.Phe908Ile
NM_001385197.1:c.2722T>A	NP_001372126.1:p.Phe908Ile
NM_001385198.1:c.2722T>A	NP_001372127.1:p.Phe908Ile
NM_001385199.1:c.2536T>A	NP_001372128.1:p.Phe846Ile
NM_001385200.1:c.2719T>A	NP_001372129.1:p.Phe907Ile
NM_001385201.1:c.2524T>A	NP_001372130.1:p.Phe842Ile
NM_001385202.1:c.2638T>A	NP_001372131.1:p.Phe880Ile
NM_001385203.1:c.2803T>A	NP_001372132.1:p.Phe935Ile
NM_001385204.1:c.2932T>A	NP_001372133.1:p.Phe978Ile
NM_001385205.1:c.2632T>A	NP_001372134.1:p.Phe878Ile
NM_001385206.1:c.2596T>A	NP_001372135.1:p.Phe866Ile
NM_001385207.1:c.2704T>A	NP_001372136.1:p.Phe902Ile