Canonical Allele Identifier: CA403996667

Gene: TYK2

Linked Data

• MyVariant Identifiers: chr19:g.10468720A>T (hg19) ; chr19:g.10358044A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10358044A>T , CM000681.2:g.10358044A>T	GRCh38
NC_000019.9:g.10468720A>T , CM000681.1:g.10468720A>T	GRCh37
NC_000019.8:g.10329720A>T	NCBI36
NG_007872.1:g.27529T>A , LRG_121:g.27529T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*619T>A	ENSP00000514307.1:n.*619T>A
ENST00000525976.6:c.2270T>A	ENSP00000434831.2:p.Leu757Gln
ENST00000527481.3:c.2270T>A	ENSP00000466340.2:p.Leu757Gln
ENST00000529370.6:n.2601T>A
ENST00000529739.2:n.2684T>A
ENST00000530829.2:c.*1821T>A	ENSP00000436826.2:n.*1821T>A
ENST00000531836.6:c.2270T>A	ENSP00000436175.2:p.Leu757Gln
ENST00000533334.2:c.*312T>A	ENSP00000432320.2:n.*312T>A
ENST00000534228.2:n.2684T>A
ENST00000699354.1:n.372T>A
ENST00000699355.1:c.*330T>A	ENSP00000514328.1:n.*330T>A
ENST00000699356.1:n.2684T>A
ENST00000699357.1:n.2684T>A
ENST00000699358.1:c.2270T>A	ENSP00000514329.1:p.Leu757Gln
ENST00000699360.1:c.2270T>A	ENSP00000514331.1:p.Leu757Gln
ENST00000525621.6:c.2270T>A MANE Select	ENSP00000431885.1:p.Leu757Gln
ENST00000264818.10:c.2270T>A	ENSP00000264818.6:p.Leu757Gln
ENST00000524462.5:c.1715T>A	ENSP00000433203.1:p.Leu572Gln
ENST00000525621.5:c.2270T>A	ENSP00000431885.1:p.Leu757Gln
ENST00000529370.5:c.2270T>A	ENSP00000432728.1:p.Leu757Gln
ENST00000533334.1:c.559T>A
NM_003331.4:c.2270T>A , LRG_121t1:c.2270T>A	NP_003322.3:p.Leu757Gln
XM_011528245.1:c.2270T>A	XP_011526547.1:p.Leu757Gln
XM_011528246.1:c.1973T>A	XP_011526548.1:p.Leu658Gln
XM_011528247.1:c.1973T>A	XP_011526549.1:p.Leu658Gln
XM_011528248.1:c.2270T>A	XP_011526550.1:p.Leu757Gln
XM_011528249.1:c.944T>A	XP_011526551.1:p.Leu315Gln
XM_011528251.1:c.527T>A	XP_011526553.1:p.Leu176Gln
XM_011528246.3:c.1973T>A	XP_011526548.1:p.Leu658Gln
XM_011528249.2:c.944T>A	XP_011526551.1:p.Leu315Gln
XR_001753750.1:n.2427T>A
XR_001753751.1:n.2427T>A
XR_001753752.1:n.2539T>A
XR_002958353.1:n.2308T>A
NM_003331.5:c.2270T>A MANE Select	NP_003322.3:p.Leu757Gln
NM_001385197.1:c.2270T>A	NP_001372126.1:p.Leu757Gln
NM_001385198.1:c.2270T>A	NP_001372127.1:p.Leu757Gln
NM_001385199.1:c.2084T>A	NP_001372128.1:p.Leu695Gln
NM_001385200.1:c.2270T>A	NP_001372129.1:p.Leu757Gln
NM_001385201.1:c.2072T>A	NP_001372130.1:p.Leu691Gln
NM_001385202.1:c.2186T>A	NP_001372131.1:p.Leu729Gln
NM_001385203.1:c.2270T>A	NP_001372132.1:p.Leu757Gln
NM_001385204.1:c.2270T>A	NP_001372133.1:p.Leu757Gln
NM_001385205.1:c.2180T>A	NP_001372134.1:p.Leu727Gln
NM_001385206.1:c.2144T>A	NP_001372135.1:p.Leu715Gln
NM_001385207.1:c.2252T>A	NP_001372136.1:p.Leu751Gln