Canonical Allele Identifier: CA9193082

Gene: TYK2

Linked Data

• ClinVar Variation Id: 536645
• ClinVar RCV Id: RCV000645232
• dbSNP Id: rs371070470
• ExAC: 19:10468477 T / A
• gnomAD v2: 19-10468477-T-A
• gnomAD v3: 19-10357801-T-A
• gnomAD v4: 19-10357801-T-A
• MyVariant Identifiers: chr19:g.10468477T>A (hg19) ; chr19:g.10357801T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10357801T>A , CM000681.2:g.10357801T>A	GRCh38
NC_000019.9:g.10468477T>A , CM000681.1:g.10468477T>A	GRCh37
NC_000019.8:g.10329477T>A	NCBI36
NG_007872.1:g.27772A>T , LRG_121:g.27772A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*778A>T	ENSP00000514307.1:n.*778A>T
ENST00000525976.6:c.2429A>T	ENSP00000434831.2:p.Asp810Val
ENST00000527481.3:c.2429A>T	ENSP00000466340.2:p.Asp810Val
ENST00000529370.6:n.2760A>T
ENST00000529739.2:n.2843A>T
ENST00000530829.2:c.*1980A>T	ENSP00000436826.2:n.*1980A>T
ENST00000531836.6:c.2429A>T	ENSP00000436175.2:p.Asp810Val
ENST00000533334.2:c.*471A>T	ENSP00000432320.2:n.*471A>T
ENST00000534228.2:n.2843A>T
ENST00000699354.1:n.531A>T
ENST00000699355.1:c.*489A>T	ENSP00000514328.1:n.*489A>T
ENST00000699356.1:n.2843A>T
ENST00000699357.1:n.2843A>T
ENST00000699358.1:c.2429A>T	ENSP00000514329.1:p.Asp810Val
ENST00000699360.1:c.2429A>T	ENSP00000514331.1:p.Asp810Val
ENST00000525621.6:c.2429A>T MANE Select	ENSP00000431885.1:p.Asp810Val
ENST00000264818.10:c.2429A>T	ENSP00000264818.6:p.Asp810Val
ENST00000524462.5:c.1874A>T	ENSP00000433203.1:p.Asp625Val
ENST00000525621.5:c.2429A>T	ENSP00000431885.1:p.Asp810Val
ENST00000529370.5:c.2429A>T	ENSP00000432728.1:p.Asp810Val
ENST00000529412.1:n.101A>T
ENST00000533334.1:c.718A>T
NM_003331.4:c.2429A>T , LRG_121t1:c.2429A>T	NP_003322.3:p.Asp810Val
XM_011528245.1:c.2429A>T	XP_011526547.1:p.Asp810Val
XM_011528246.1:c.2132A>T	XP_011526548.1:p.Asp711Val
XM_011528247.1:c.2132A>T	XP_011526549.1:p.Asp711Val
XM_011528248.1:c.2429A>T	XP_011526550.1:p.Asp810Val
XM_011528249.1:c.1103A>T	XP_011526551.1:p.Asp368Val
XM_011528251.1:c.686A>T	XP_011526553.1:p.Asp229Val
XM_011528246.3:c.2132A>T	XP_011526548.1:p.Asp711Val
XM_011528249.2:c.1103A>T	XP_011526551.1:p.Asp368Val
XR_001753750.1:n.2586A>T
XR_001753751.1:n.2586A>T
XR_002958353.1:n.2467A>T
NM_003331.5:c.2429A>T MANE Select	NP_003322.3:p.Asp810Val
NM_001385197.1:c.2429A>T	NP_001372126.1:p.Asp810Val
NM_001385198.1:c.2429A>T	NP_001372127.1:p.Asp810Val
NM_001385199.1:c.2243A>T	NP_001372128.1:p.Asp748Val
NM_001385200.1:c.2429A>T	NP_001372129.1:p.Asp810Val
NM_001385201.1:c.2231A>T	NP_001372130.1:p.Asp744Val
NM_001385202.1:c.2345A>T	NP_001372131.1:p.Asp782Val
NM_001385203.1:c.2429A>T	NP_001372132.1:p.Asp810Val
NM_001385204.1:c.2429A>T	NP_001372133.1:p.Asp810Val
NM_001385205.1:c.2339A>T	NP_001372134.1:p.Asp780Val
NM_001385206.1:c.2303A>T	NP_001372135.1:p.Asp768Val
NM_001385207.1:c.2411A>T	NP_001372136.1:p.Asp804Val