Canonical Allele Identifier: CA9192903

Gene: TYK2

Linked Data

• ClinVar Variation Id: 2911641
• ClinVar RCV Id: RCV003627437
• dbSNP Id: rs370943320
• ExAC: 19:10464740 G / A
• gnomAD v2: 19-10464740-G-A
• gnomAD v3: 19-10354064-G-A
• gnomAD v4: 19-10354064-G-A
• MyVariant Identifiers: chr19:g.10464740G>A (hg19) ; chr19:g.10354064G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10354064G>A , CM000681.2:g.10354064G>A	GRCh38
NC_000019.9:g.10464740G>A , CM000681.1:g.10464740G>A	GRCh37
NC_000019.8:g.10325740G>A	NCBI36
NG_007872.1:g.31509C>T , LRG_121:g.31509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1235C>T	ENSP00000514307.1:n.*1235C>T
ENST00000525976.6:c.2886C>T	ENSP00000434831.2:p.Tyr962=
ENST00000527481.3:c.2886C>T	ENSP00000466340.2:p.Tyr962=
ENST00000529370.6:n.4262C>T
ENST00000529739.2:n.3300C>T
ENST00000530829.2:c.*2437C>T	ENSP00000436826.2:n.*2437C>T
ENST00000531836.6:c.2886C>T	ENSP00000436175.2:p.Tyr962=
ENST00000533334.2:c.*928C>T	ENSP00000432320.2:n.*928C>T
ENST00000534228.2:n.4345C>T
ENST00000699354.1:n.988C>T
ENST00000699355.1:c.*1991C>T	ENSP00000514328.1:n.*1991C>T
ENST00000699356.1:n.3300C>T
ENST00000699357.1:n.4345C>T
ENST00000699358.1:c.2886C>T	ENSP00000514329.1:p.Tyr962=
ENST00000699359.1:c.92C>T
ENST00000699360.1:c.2886C>T	ENSP00000514331.1:p.Tyr962=
ENST00000699368.1:c.90C>T	ENSP00000514335.1:p.Tyr30=
ENST00000525621.6:c.2886C>T MANE Select	ENSP00000431885.1:p.Tyr962=
ENST00000264818.10:c.2886C>T	ENSP00000264818.6:p.Tyr962=
ENST00000524462.5:c.2331C>T	ENSP00000433203.1:p.Tyr777=
ENST00000525621.5:c.2886C>T	ENSP00000431885.1:p.Tyr962=
ENST00000527481.2:c.182C>T
ENST00000529412.1:n.558C>T
ENST00000529739.1:c.-441C>T	ENSP00000436155.1:n.-441C>T
ENST00000530560.5:c.315C>T	ENSP00000465291.1:p.Tyr105=
ENST00000592137.1:n.40C>T
NM_003331.4:c.2886C>T , LRG_121t1:c.2886C>T	NP_003322.3:p.Tyr962=
XM_011528245.1:c.2886C>T	XP_011526547.1:p.Tyr962=
XM_011528246.1:c.2589C>T	XP_011526548.1:p.Tyr863=
XM_011528247.1:c.2589C>T	XP_011526549.1:p.Tyr863=
XM_011528248.1:c.2886C>T	XP_011526550.1:p.Tyr962=
XM_011528249.1:c.1560C>T	XP_011526551.1:p.Tyr520=
XM_011528251.1:c.1143C>T	XP_011526553.1:p.Tyr381=
XM_011528246.3:c.2589C>T	XP_011526548.1:p.Tyr863=
XM_011528249.2:c.1560C>T	XP_011526551.1:p.Tyr520=
XR_001753750.1:n.3043C>T
XR_001753751.1:n.3043C>T
XR_002958353.1:n.3969C>T
NM_003331.5:c.2886C>T MANE Select	NP_003322.3:p.Tyr962=
NM_001385197.1:c.2886C>T	NP_001372126.1:p.Tyr962=
NM_001385198.1:c.2886C>T	NP_001372127.1:p.Tyr962=
NM_001385199.1:c.2700C>T	NP_001372128.1:p.Tyr900=
NM_001385200.1:c.2883C>T	NP_001372129.1:p.Tyr961=
NM_001385201.1:c.2688C>T	NP_001372130.1:p.Tyr896=
NM_001385202.1:c.2802C>T	NP_001372131.1:p.Tyr934=
NM_001385203.1:c.2967C>T	NP_001372132.1:p.Tyr989=
NM_001385204.1:c.3096C>T	NP_001372133.1:p.Tyr1032=
NM_001385205.1:c.2796C>T	NP_001372134.1:p.Tyr932=
NM_001385206.1:c.2760C>T	NP_001372135.1:p.Tyr920=
NM_001385207.1:c.2868C>T	NP_001372136.1:p.Tyr956=