Canonical Allele Identifier: CA9192767

Gene: TYK2

Linked Data

• dbSNP Id: rs757101286
• ExAC: 19:10463112 T / TG
• gnomAD v2: 19-10463112-T-TG
• gnomAD v3: 19-10352436-T-TG
• gnomAD v4: 19-10352436-T-TG
• COSMIC: COSM1480516
• MyVariant Identifiers: chr19:g.10463112_10463113insG (hg19) ; chr19:g.10352436_10352437insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352443dup , CM000681.2:g.10352443dup	GRCh38
NC_000019.9:g.10463119dup , CM000681.1:g.10463119dup	GRCh37
NC_000019.8:g.10324119dup	NCBI36
NG_007872.1:g.33136dup , LRG_121:g.33136dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000524470.2:c.*1664dup	ENSP00000514307.1:n.*1664dup
ENST00000525976.6:c.3315dup	ENSP00000434831.2:p.Thr1106HisfsTer?
ENST00000527481.3:c.*85dup	ENSP00000466340.2:n.*85dup
ENST00000529370.6:n.4691dup
ENST00000529739.2:n.4124dup
ENST00000530829.2:c.*2866dup	ENSP00000436826.2:n.*2866dup
ENST00000531836.6:c.3315dup	ENSP00000436175.2:p.Thr1106HisfsTer5
ENST00000533334.2:c.*1242+489dup	ENSP00000432320.2:n.*1242+489dup
ENST00000534228.2:n.5054+489dup
ENST00000699354.1:n.1417dup
ENST00000699355.1:c.*2815dup	ENSP00000514328.1:n.*2815dup
ENST00000699356.1:n.4124dup
ENST00000699357.1:n.5169dup
ENST00000699358.1:c.3200+489dup	ENSP00000514329.1:n.3200+489dup
ENST00000699359.1:c.489dup
ENST00000699360.1:c.3273dup	ENSP00000514331.1:p.Thr1092HisfsTer5
ENST00000699361.1:n.349dup
ENST00000699362.1:c.211dup	ENSP00000514332.1:n.211dup
ENST00000699363.1:c.211dup	ENSP00000514333.1:n.211dup
ENST00000699364.1:n.315dup
ENST00000699365.1:c.384dup	ENSP00000514334.1:p.Thr129HisfsTer5
ENST00000699366.1:n.111+1377dup
ENST00000699367.1:n.112-1275dup
ENST00000699368.1:c.802dup	ENSP00000514335.1:n.802dup
ENST00000525621.6:c.3315dup MANE Select	ENSP00000431885.1:p.Thr1106HisfsTer5
ENST00000264818.10:c.3315dup	ENSP00000264818.6:p.Thr1106HisfsTer5
ENST00000524462.5:c.2760dup	ENSP00000433203.1:p.Thr921HisfsTer5
ENST00000525621.5:c.3315dup	ENSP00000431885.1:p.Thr1106HisfsTer5
ENST00000525976.5:c.56dup
ENST00000527481.2:c.492dup
ENST00000529422.1:n.116+585dup
ENST00000529739.1:c.384dup	ENSP00000436155.1:p.Thr129HisfsTer?
ENST00000530220.1:n.331+489dup
ENST00000530560.5:c.338-1469dup	ENSP00000465291.1:n.338-1469dup
ENST00000592137.1:n.469dup
NM_003331.4:c.3315dup , LRG_121t1:c.3315dup	NP_003322.3:p.Thr1106HisfsTer5
XM_011528245.1:c.3315dup	XP_011526547.1:p.Thr1106HisfsTer5
XM_011528246.1:c.3018dup	XP_011526548.1:p.Thr1007HisfsTer5
XM_011528247.1:c.3018dup	XP_011526549.1:p.Thr1007HisfsTer5
XM_011528248.1:c.3200+489dup	XP_011526550.1:n.3200+489dup
XM_011528249.1:c.1989dup	XP_011526551.1:p.Thr664HisfsTer5
XM_011528251.1:c.1572dup	XP_011526553.1:p.Thr525HisfsTer5
XM_011528246.3:c.3018dup	XP_011526548.1:p.Thr1007HisfsTer5
XM_011528249.2:c.1989dup	XP_011526551.1:p.Thr664HisfsTer5
XR_001753750.1:n.3357+489dup
XR_001753751.1:n.3867dup
XR_002958353.1:n.4793dup
NM_003331.5:c.3315dup MANE Select	NP_003322.3:p.Thr1106HisfsTer5
NM_001385197.1:c.3315dup	NP_001372126.1:p.Thr1106HisfsTer?
NM_001385198.1:c.3168+521dup	NP_001372127.1:n.3168+521dup
NM_001385199.1:c.3129dup	NP_001372128.1:p.Thr1044HisfsTer5
NM_001385200.1:c.3312dup	NP_001372129.1:p.Thr1105HisfsTer5
NM_001385201.1:c.3117dup	NP_001372130.1:p.Thr1040HisfsTer5
NM_001385202.1:c.3231dup	NP_001372131.1:p.Thr1078HisfsTer5
NM_001385203.1:c.3396dup	NP_001372132.1:p.Thr1133HisfsTer5
NM_001385204.1:c.3525dup	NP_001372133.1:p.Thr1176HisfsTer5
NM_001385205.1:c.3225dup	NP_001372134.1:p.Thr1076HisfsTer5
NM_001385206.1:c.3189dup	NP_001372135.1:p.Thr1064HisfsTer5
NM_001385207.1:c.3297dup	NP_001372136.1:p.Thr1100HisfsTer5