Canonical Allele Identifier: CA9192923

Gene: TYK2

Linked Data

• dbSNP Id: rs751960997
• ExAC: 19:10464863 G / A
• gnomAD v2: 19-10464863-G-A
• gnomAD v3: 19-10354187-G-A
• gnomAD v4: 19-10354187-G-A
• COSMIC: COSM4738522
• MyVariant Identifiers: chr19:g.10464863G>A (hg19) ; chr19:g.10354187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10354187G>A , CM000681.2:g.10354187G>A	GRCh38
NC_000019.9:g.10464863G>A , CM000681.1:g.10464863G>A	GRCh37
NC_000019.8:g.10325863G>A	NCBI36
NG_007872.1:g.31386C>T , LRG_121:g.31386C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1112C>T	ENSP00000514307.1:n.*1112C>T
ENST00000525976.6:c.2763C>T	ENSP00000434831.2:p.Asp921=
ENST00000527481.3:c.2763C>T	ENSP00000466340.2:p.Asp921=
ENST00000529370.6:n.4139C>T
ENST00000529739.2:n.3177C>T
ENST00000530829.2:c.*2314C>T	ENSP00000436826.2:n.*2314C>T
ENST00000531836.6:c.2763C>T	ENSP00000436175.2:p.Asp921=
ENST00000533334.2:c.*805C>T	ENSP00000432320.2:n.*805C>T
ENST00000534228.2:n.4222C>T
ENST00000699354.1:n.865C>T
ENST00000699355.1:c.*1868C>T	ENSP00000514328.1:n.*1868C>T
ENST00000699356.1:n.3177C>T
ENST00000699357.1:n.4222C>T
ENST00000699358.1:c.2763C>T	ENSP00000514329.1:p.Asp921=
ENST00000699360.1:c.2763C>T	ENSP00000514331.1:p.Asp921=
ENST00000525621.6:c.2763C>T MANE Select	ENSP00000431885.1:p.Asp921=
ENST00000264818.10:c.2763C>T	ENSP00000264818.6:p.Asp921=
ENST00000524462.5:c.2208C>T	ENSP00000433203.1:p.Asp736=
ENST00000525621.5:c.2763C>T	ENSP00000431885.1:p.Asp921=
ENST00000527481.2:c.59C>T
ENST00000529412.1:n.435C>T
ENST00000530560.5:c.192C>T	ENSP00000465291.1:p.Asp64=
NM_003331.4:c.2763C>T , LRG_121t1:c.2763C>T	NP_003322.3:p.Asp921=
XM_011528245.1:c.2763C>T	XP_011526547.1:p.Asp921=
XM_011528246.1:c.2466C>T	XP_011526548.1:p.Asp822=
XM_011528247.1:c.2466C>T	XP_011526549.1:p.Asp822=
XM_011528248.1:c.2763C>T	XP_011526550.1:p.Asp921=
XM_011528249.1:c.1437C>T	XP_011526551.1:p.Asp479=
XM_011528251.1:c.1020C>T	XP_011526553.1:p.Asp340=
XM_011528246.3:c.2466C>T	XP_011526548.1:p.Asp822=
XM_011528249.2:c.1437C>T	XP_011526551.1:p.Asp479=
XR_001753750.1:n.2920C>T
XR_001753751.1:n.2920C>T
XR_002958353.1:n.3846C>T
NM_003331.5:c.2763C>T MANE Select	NP_003322.3:p.Asp921=
NM_001385197.1:c.2763C>T	NP_001372126.1:p.Asp921=
NM_001385198.1:c.2763C>T	NP_001372127.1:p.Asp921=
NM_001385199.1:c.2577C>T	NP_001372128.1:p.Asp859=
NM_001385200.1:c.2760C>T	NP_001372129.1:p.Asp920=
NM_001385201.1:c.2565C>T	NP_001372130.1:p.Asp855=
NM_001385202.1:c.2679C>T	NP_001372131.1:p.Asp893=
NM_001385203.1:c.2844C>T	NP_001372132.1:p.Asp948=
NM_001385204.1:c.2973C>T	NP_001372133.1:p.Asp991=
NM_001385205.1:c.2673C>T	NP_001372134.1:p.Asp891=
NM_001385206.1:c.2637C>T	NP_001372135.1:p.Asp879=
NM_001385207.1:c.2745C>T	NP_001372136.1:p.Asp915=