Canonical Allele Identifier: CA403987649

Gene: TYK2

Linked Data

• gnomAD v4: 19-10354056-C-A
• MyVariant Identifiers: chr19:g.10464732C>A (hg19) ; chr19:g.10354056C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10354056C>A , CM000681.2:g.10354056C>A	GRCh38
NC_000019.9:g.10464732C>A , CM000681.1:g.10464732C>A	GRCh37
NC_000019.8:g.10325732C>A	NCBI36
NG_007872.1:g.31517G>T , LRG_121:g.31517G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1243G>T	ENSP00000514307.1:n.*1243G>T
ENST00000525976.6:c.2894G>T	ENSP00000434831.2:p.Cys965Phe
ENST00000527481.3:c.2894G>T	ENSP00000466340.2:p.Cys965Phe
ENST00000529370.6:n.4270G>T
ENST00000529739.2:n.3308G>T
ENST00000530829.2:c.*2445G>T	ENSP00000436826.2:n.*2445G>T
ENST00000531836.6:c.2894G>T	ENSP00000436175.2:p.Cys965Phe
ENST00000533334.2:c.*936G>T	ENSP00000432320.2:n.*936G>T
ENST00000534228.2:n.4353G>T
ENST00000699354.1:n.996G>T
ENST00000699355.1:c.*1999G>T	ENSP00000514328.1:n.*1999G>T
ENST00000699356.1:n.3308G>T
ENST00000699357.1:n.4353G>T
ENST00000699358.1:c.2894G>T	ENSP00000514329.1:p.Cys965Phe
ENST00000699359.1:c.100G>T
ENST00000699360.1:c.2894G>T	ENSP00000514331.1:p.Cys965Phe
ENST00000699368.1:c.98G>T	ENSP00000514335.1:p.Cys33Phe
ENST00000525621.6:c.2894G>T MANE Select	ENSP00000431885.1:p.Cys965Phe
ENST00000264818.10:c.2894G>T	ENSP00000264818.6:p.Cys965Phe
ENST00000524462.5:c.2339G>T	ENSP00000433203.1:p.Cys780Phe
ENST00000525621.5:c.2894G>T	ENSP00000431885.1:p.Cys965Phe
ENST00000527481.2:c.190G>T
ENST00000529412.1:n.566G>T
ENST00000529739.1:c.-433G>T	ENSP00000436155.1:n.-433G>T
ENST00000530560.5:c.323G>T	ENSP00000465291.1:p.Cys108Phe
ENST00000592137.1:n.48G>T
NM_003331.4:c.2894G>T , LRG_121t1:c.2894G>T	NP_003322.3:p.Cys965Phe
XM_011528245.1:c.2894G>T	XP_011526547.1:p.Cys965Phe
XM_011528246.1:c.2597G>T	XP_011526548.1:p.Cys866Phe
XM_011528247.1:c.2597G>T	XP_011526549.1:p.Cys866Phe
XM_011528248.1:c.2894G>T	XP_011526550.1:p.Cys965Phe
XM_011528249.1:c.1568G>T	XP_011526551.1:p.Cys523Phe
XM_011528251.1:c.1151G>T	XP_011526553.1:p.Cys384Phe
XM_011528246.3:c.2597G>T	XP_011526548.1:p.Cys866Phe
XM_011528249.2:c.1568G>T	XP_011526551.1:p.Cys523Phe
XR_001753750.1:n.3051G>T
XR_001753751.1:n.3051G>T
XR_002958353.1:n.3977G>T
NM_003331.5:c.2894G>T MANE Select	NP_003322.3:p.Cys965Phe
NM_001385197.1:c.2894G>T	NP_001372126.1:p.Cys965Phe
NM_001385198.1:c.2894G>T	NP_001372127.1:p.Cys965Phe
NM_001385199.1:c.2708G>T	NP_001372128.1:p.Cys903Phe
NM_001385200.1:c.2891G>T	NP_001372129.1:p.Cys964Phe
NM_001385201.1:c.2696G>T	NP_001372130.1:p.Cys899Phe
NM_001385202.1:c.2810G>T	NP_001372131.1:p.Cys937Phe
NM_001385203.1:c.2975G>T	NP_001372132.1:p.Cys992Phe
NM_001385204.1:c.3104G>T	NP_001372133.1:p.Cys1035Phe
NM_001385205.1:c.2804G>T	NP_001372134.1:p.Cys935Phe
NM_001385206.1:c.2768G>T	NP_001372135.1:p.Cys923Phe
NM_001385207.1:c.2876G>T	NP_001372136.1:p.Cys959Phe