Canonical Allele Identifier: CA403982946

Gene: TYK2

Linked Data

• gnomAD v4: 19-10352448-G-T
• MyVariant Identifiers: chr19:g.10463124G>T (hg19) ; chr19:g.10352448G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352448G>T , CM000681.2:g.10352448G>T	GRCh38
NC_000019.9:g.10463124G>T , CM000681.1:g.10463124G>T	GRCh37
NC_000019.8:g.10324124G>T	NCBI36
NG_007872.1:g.33125C>A , LRG_121:g.33125C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1653C>A	ENSP00000514307.1:n.*1653C>A
ENST00000525976.6:c.3304C>A	ENSP00000434831.2:p.Gln1102Lys
ENST00000527481.3:c.*74C>A	ENSP00000466340.2:n.*74C>A
ENST00000529370.6:n.4680C>A
ENST00000529739.2:n.4113C>A
ENST00000530829.2:c.*2855C>A	ENSP00000436826.2:n.*2855C>A
ENST00000531836.6:c.3304C>A	ENSP00000436175.2:p.Gln1102Lys
ENST00000533334.2:c.*1242+478C>A	ENSP00000432320.2:n.*1242+478C>A
ENST00000534228.2:n.5054+478C>A
ENST00000699354.1:n.1406C>A
ENST00000699355.1:c.*2804C>A	ENSP00000514328.1:n.*2804C>A
ENST00000699356.1:n.4113C>A
ENST00000699357.1:n.5158C>A
ENST00000699358.1:c.3200+478C>A	ENSP00000514329.1:n.3200+478C>A
ENST00000699359.1:c.478C>A
ENST00000699360.1:c.3262C>A	ENSP00000514331.1:p.Gln1088Lys
ENST00000699361.1:n.338C>A
ENST00000699362.1:c.200C>A	ENSP00000514332.1:n.200C>A
ENST00000699363.1:c.200C>A	ENSP00000514333.1:n.200C>A
ENST00000699364.1:n.304C>A
ENST00000699365.1:c.373C>A	ENSP00000514334.1:p.Gln125Lys
ENST00000699366.1:n.111+1366C>A
ENST00000699367.1:n.112-1286C>A
ENST00000699368.1:c.791C>A	ENSP00000514335.1:n.791C>A
ENST00000525621.6:c.3304C>A MANE Select	ENSP00000431885.1:p.Gln1102Lys
ENST00000264818.10:c.3304C>A	ENSP00000264818.6:p.Gln1102Lys
ENST00000524462.5:c.2749C>A	ENSP00000433203.1:p.Gln917Lys
ENST00000525621.5:c.3304C>A	ENSP00000431885.1:p.Gln1102Lys
ENST00000525976.5:c.45C>A
ENST00000527481.2:c.481C>A
ENST00000529422.1:n.116+574C>A
ENST00000529739.1:c.373C>A	ENSP00000436155.1:p.Gln125Lys
ENST00000530220.1:n.331+478C>A
ENST00000530560.5:c.338-1480C>A	ENSP00000465291.1:n.338-1480C>A
ENST00000592137.1:n.458C>A
NM_003331.4:c.3304C>A , LRG_121t1:c.3304C>A	NP_003322.3:p.Gln1102Lys
XM_011528245.1:c.3304C>A	XP_011526547.1:p.Gln1102Lys
XM_011528246.1:c.3007C>A	XP_011526548.1:p.Gln1003Lys
XM_011528247.1:c.3007C>A	XP_011526549.1:p.Gln1003Lys
XM_011528248.1:c.3200+478C>A	XP_011526550.1:n.3200+478C>A
XM_011528249.1:c.1978C>A	XP_011526551.1:p.Gln660Lys
XM_011528251.1:c.1561C>A	XP_011526553.1:p.Gln521Lys
XM_011528246.3:c.3007C>A	XP_011526548.1:p.Gln1003Lys
XM_011528249.2:c.1978C>A	XP_011526551.1:p.Gln660Lys
XR_001753750.1:n.3357+478C>A
XR_001753751.1:n.3856C>A
XR_002958353.1:n.4782C>A
NM_003331.5:c.3304C>A MANE Select	NP_003322.3:p.Gln1102Lys
NM_001385197.1:c.3304C>A	NP_001372126.1:p.Gln1102Lys
NM_001385198.1:c.3168+510C>A	NP_001372127.1:n.3168+510C>A
NM_001385199.1:c.3118C>A	NP_001372128.1:p.Gln1040Lys
NM_001385200.1:c.3301C>A	NP_001372129.1:p.Gln1101Lys
NM_001385201.1:c.3106C>A	NP_001372130.1:p.Gln1036Lys
NM_001385202.1:c.3220C>A	NP_001372131.1:p.Gln1074Lys
NM_001385203.1:c.3385C>A	NP_001372132.1:p.Gln1129Lys
NM_001385204.1:c.3514C>A	NP_001372133.1:p.Gln1172Lys
NM_001385205.1:c.3214C>A	NP_001372134.1:p.Gln1072Lys
NM_001385206.1:c.3178C>A	NP_001372135.1:p.Gln1060Lys
NM_001385207.1:c.3286C>A	NP_001372136.1:p.Gln1096Lys