Canonical Allele Identifier: CA505381381

Gene: TYK2

Linked Data

• ClinVar Variation Id: 1348440
• ClinVar RCV Id: RCV002033369
• dbSNP Id: rs138742402
• gnomAD v2: 19-10478844-G-T
• gnomAD v4: 19-10368168-G-T
• MyVariant Identifiers: chr19:g.10478844G>T (hg19) ; chr19:g.10368168G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10368168G>T , CM000681.2:g.10368168G>T	GRCh38
NC_000019.9:g.10478844G>T , CM000681.1:g.10478844G>T	GRCh37
NC_000019.8:g.10339844G>T	NCBI36
NG_007872.1:g.17405C>A , LRG_121:g.17405C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.352C>A	ENSP00000514307.1:p.Arg118=
ENST00000525976.6:c.352C>A	ENSP00000434831.2:p.Arg118=
ENST00000527481.3:c.352C>A	ENSP00000466340.2:p.Arg118=
ENST00000529370.6:n.683C>A
ENST00000529739.2:n.766C>A
ENST00000530829.2:c.473C>A	ENSP00000436826.2:p.Ser158Ter
ENST00000531836.6:c.352C>A	ENSP00000436175.2:p.Arg118=
ENST00000533334.2:c.352C>A	ENSP00000432320.2:p.Arg118=
ENST00000534228.2:n.766C>A
ENST00000699355.1:c.352C>A	ENSP00000514328.1:p.Arg118=
ENST00000699356.1:n.766C>A
ENST00000699357.1:n.766C>A
ENST00000699358.1:c.352C>A	ENSP00000514329.1:p.Arg118=
ENST00000699360.1:c.352C>A	ENSP00000514331.1:p.Arg118=
ENST00000699369.1:n.695C>A
ENST00000699370.1:n.717C>A
ENST00000525621.6:c.352C>A MANE Select	ENSP00000431885.1:p.Arg118=
ENST00000264818.10:c.352C>A	ENSP00000264818.6:p.Arg118=
ENST00000524462.5:c.-90-1588C>A	ENSP00000433203.1:n.-90-1588C>A
ENST00000525621.5:c.352C>A	ENSP00000431885.1:p.Arg118=
ENST00000525824.1:c.265C>A	ENSP00000467288.1:p.Arg89=
ENST00000529317.1:n.280C>A
ENST00000529370.5:c.352C>A	ENSP00000432728.1:p.Arg118=
ENST00000531836.5:c.352C>A	ENSP00000436175.1:p.Arg118=
NM_003331.4:c.352C>A , LRG_121t1:c.352C>A	NP_003322.3:p.Arg118=
XM_011528245.1:c.352C>A	XP_011526547.1:p.Arg118=
XM_011528246.1:c.55C>A	XP_011526548.1:p.Arg19=
XM_011528247.1:c.55C>A	XP_011526549.1:p.Arg19=
XM_011528248.1:c.352C>A	XP_011526550.1:p.Arg118=
XM_011528250.1:c.352C>A	XP_011526552.1:p.Arg118=
XM_011528252.1:c.352C>A	XP_011526554.1:p.Arg118=
XM_011528246.3:c.55C>A	XP_011526548.1:p.Arg19=
XR_001753750.1:n.509C>A
XR_001753751.1:n.509C>A
XR_001753752.1:n.509C>A
XR_002958353.1:n.509C>A
NM_003331.5:c.352C>A MANE Select	NP_003322.3:p.Arg118=
NM_001385197.1:c.352C>A	NP_001372126.1:p.Arg118=
NM_001385198.1:c.352C>A	NP_001372127.1:p.Arg118=
NM_001385199.1:c.352C>A	NP_001372128.1:p.Arg118=
NM_001385200.1:c.352C>A	NP_001372129.1:p.Arg118=
NM_001385201.1:c.352C>A	NP_001372130.1:p.Arg118=
NM_001385202.1:c.352C>A	NP_001372131.1:p.Arg118=
NM_001385203.1:c.352C>A	NP_001372132.1:p.Arg118=
NM_001385204.1:c.352C>A	NP_001372133.1:p.Arg118=
NM_001385205.1:c.352C>A	NP_001372134.1:p.Arg118=
NM_001385206.1:c.352C>A	NP_001372135.1:p.Arg118=
NM_001385207.1:c.352C>A	NP_001372136.1:p.Arg118=