Canonical Allele Identifier: CA403998243

Gene: TYK2

Linked Data

• gnomAD v4: 19-10358089-A-T
• MyVariant Identifiers: chr19:g.10468765A>T (hg19) ; chr19:g.10358089A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10358089A>T , CM000681.2:g.10358089A>T	GRCh38
NC_000019.9:g.10468765A>T , CM000681.1:g.10468765A>T	GRCh37
NC_000019.8:g.10329765A>T	NCBI36
NG_007872.1:g.27484T>A , LRG_121:g.27484T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*574T>A	ENSP00000514307.1:n.*574T>A
ENST00000525976.6:c.2225T>A	ENSP00000434831.2:p.Leu742Gln
ENST00000527481.3:c.2225T>A	ENSP00000466340.2:p.Leu742Gln
ENST00000529370.6:n.2556T>A
ENST00000529739.2:n.2639T>A
ENST00000530829.2:c.*1776T>A	ENSP00000436826.2:n.*1776T>A
ENST00000531836.6:c.2225T>A	ENSP00000436175.2:p.Leu742Gln
ENST00000533334.2:c.*267T>A	ENSP00000432320.2:n.*267T>A
ENST00000534228.2:n.2639T>A
ENST00000699354.1:n.327T>A
ENST00000699355.1:c.*285T>A	ENSP00000514328.1:n.*285T>A
ENST00000699356.1:n.2639T>A
ENST00000699357.1:n.2639T>A
ENST00000699358.1:c.2225T>A	ENSP00000514329.1:p.Leu742Gln
ENST00000699360.1:c.2225T>A	ENSP00000514331.1:p.Leu742Gln
ENST00000525621.6:c.2225T>A MANE Select	ENSP00000431885.1:p.Leu742Gln
ENST00000264818.10:c.2225T>A	ENSP00000264818.6:p.Leu742Gln
ENST00000524462.5:c.1670T>A	ENSP00000433203.1:p.Leu557Gln
ENST00000525621.5:c.2225T>A	ENSP00000431885.1:p.Leu742Gln
ENST00000529370.5:c.2225T>A	ENSP00000432728.1:p.Leu742Gln
ENST00000533334.1:c.514T>A
NM_003331.4:c.2225T>A , LRG_121t1:c.2225T>A	NP_003322.3:p.Leu742Gln
XM_011528245.1:c.2225T>A	XP_011526547.1:p.Leu742Gln
XM_011528246.1:c.1928T>A	XP_011526548.1:p.Leu643Gln
XM_011528247.1:c.1928T>A	XP_011526549.1:p.Leu643Gln
XM_011528248.1:c.2225T>A	XP_011526550.1:p.Leu742Gln
XM_011528249.1:c.899T>A	XP_011526551.1:p.Leu300Gln
XM_011528251.1:c.482T>A	XP_011526553.1:p.Leu161Gln
XM_011528246.3:c.1928T>A	XP_011526548.1:p.Leu643Gln
XM_011528249.2:c.899T>A	XP_011526551.1:p.Leu300Gln
XR_001753750.1:n.2382T>A
XR_001753751.1:n.2382T>A
XR_001753752.1:n.2494T>A
XR_002958353.1:n.2263T>A
NM_003331.5:c.2225T>A MANE Select	NP_003322.3:p.Leu742Gln
NM_001385197.1:c.2225T>A	NP_001372126.1:p.Leu742Gln
NM_001385198.1:c.2225T>A	NP_001372127.1:p.Leu742Gln
NM_001385199.1:c.2039T>A	NP_001372128.1:p.Leu680Gln
NM_001385200.1:c.2225T>A	NP_001372129.1:p.Leu742Gln
NM_001385201.1:c.2027T>A	NP_001372130.1:p.Leu676Gln
NM_001385202.1:c.2141T>A	NP_001372131.1:p.Leu714Gln
NM_001385203.1:c.2225T>A	NP_001372132.1:p.Leu742Gln
NM_001385204.1:c.2225T>A	NP_001372133.1:p.Leu742Gln
NM_001385205.1:c.2135T>A	NP_001372134.1:p.Leu712Gln
NM_001385206.1:c.2099T>A	NP_001372135.1:p.Leu700Gln
NM_001385207.1:c.2207T>A	NP_001372136.1:p.Leu736Gln