Canonical Allele Identifier: CA403983359

Gene: TYK2

Linked Data

• gnomAD v4: 19-10352551-C-A
• MyVariant Identifiers: chr19:g.10463227C>A (hg19) ; chr19:g.10352551C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352551C>A , CM000681.2:g.10352551C>A	GRCh38
NC_000019.9:g.10463227C>A , CM000681.1:g.10463227C>A	GRCh37
NC_000019.8:g.10324227C>A	NCBI36
NG_007872.1:g.33022G>T , LRG_121:g.33022G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1550G>T	ENSP00000514307.1:n.*1550G>T
ENST00000525976.6:c.3201G>T	ENSP00000434831.2:p.Trp1067Cys
ENST00000527481.3:c.3082G>T	ENSP00000466340.2:p.Val1028Leu
ENST00000529370.6:n.4577G>T
ENST00000529739.2:n.4010G>T
ENST00000530829.2:c.*2752G>T	ENSP00000436826.2:n.*2752G>T
ENST00000531836.6:c.3201G>T	ENSP00000436175.2:p.Trp1067Cys
ENST00000533334.2:c.*1242+375G>T	ENSP00000432320.2:n.*1242+375G>T
ENST00000534228.2:n.5054+375G>T
ENST00000699354.1:n.1303G>T
ENST00000699355.1:c.*2701G>T	ENSP00000514328.1:n.*2701G>T
ENST00000699356.1:n.4010G>T
ENST00000699357.1:n.5055G>T
ENST00000699358.1:c.3200+375G>T	ENSP00000514329.1:n.3200+375G>T
ENST00000699359.1:c.375G>T
ENST00000699360.1:c.3159G>T	ENSP00000514331.1:p.Glu1053Asp
ENST00000699361.1:n.235G>T
ENST00000699362.1:c.97G>T	ENSP00000514332.1:p.Val33Leu
ENST00000699363.1:c.97G>T	ENSP00000514333.1:p.Val33Leu
ENST00000699364.1:n.201G>T
ENST00000699365.1:c.270G>T	ENSP00000514334.1:p.Trp90Cys
ENST00000699366.1:n.111+1263G>T
ENST00000699367.1:n.111+1263G>T
ENST00000699368.1:c.688G>T	ENSP00000514335.1:n.688G>T
ENST00000525621.6:c.3201G>T MANE Select	ENSP00000431885.1:p.Trp1067Cys
ENST00000264818.10:c.3201G>T	ENSP00000264818.6:p.Trp1067Cys
ENST00000524462.5:c.2646G>T	ENSP00000433203.1:p.Trp882Cys
ENST00000525621.5:c.3201G>T	ENSP00000431885.1:p.Trp1067Cys
ENST00000527481.2:c.378G>T
ENST00000529422.1:n.116+471G>T
ENST00000529739.1:c.270G>T	ENSP00000436155.1:p.Trp90Cys
ENST00000530220.1:n.331+375G>T
ENST00000530560.5:c.337+1491G>T	ENSP00000465291.1:n.337+1491G>T
ENST00000592137.1:n.355G>T
NM_003331.4:c.3201G>T , LRG_121t1:c.3201G>T	NP_003322.3:p.Trp1067Cys
XM_011528245.1:c.3201G>T	XP_011526547.1:p.Trp1067Cys
XM_011528246.1:c.2904G>T	XP_011526548.1:p.Trp968Cys
XM_011528247.1:c.2904G>T	XP_011526549.1:p.Trp968Cys
XM_011528248.1:c.3200+375G>T	XP_011526550.1:n.3200+375G>T
XM_011528249.1:c.1875G>T	XP_011526551.1:p.Trp625Cys
XM_011528251.1:c.1458G>T	XP_011526553.1:p.Trp486Cys
XM_011528246.3:c.2904G>T	XP_011526548.1:p.Trp968Cys
XM_011528249.2:c.1875G>T	XP_011526551.1:p.Trp625Cys
XR_001753750.1:n.3357+375G>T
XR_001753751.1:n.3753G>T
XR_002958353.1:n.4679G>T
NM_003331.5:c.3201G>T MANE Select	NP_003322.3:p.Trp1067Cys
NM_001385197.1:c.3201G>T	NP_001372126.1:p.Trp1067Cys
NM_001385198.1:c.3168+407G>T	NP_001372127.1:n.3168+407G>T
NM_001385199.1:c.3015G>T	NP_001372128.1:p.Trp1005Cys
NM_001385200.1:c.3198G>T	NP_001372129.1:p.Trp1066Cys
NM_001385201.1:c.3003G>T	NP_001372130.1:p.Trp1001Cys
NM_001385202.1:c.3117G>T	NP_001372131.1:p.Trp1039Cys
NM_001385203.1:c.3282G>T	NP_001372132.1:p.Trp1094Cys
NM_001385204.1:c.3411G>T	NP_001372133.1:p.Trp1137Cys
NM_001385205.1:c.3111G>T	NP_001372134.1:p.Trp1037Cys
NM_001385206.1:c.3075G>T	NP_001372135.1:p.Trp1025Cys
NM_001385207.1:c.3183G>T	NP_001372136.1:p.Trp1061Cys