Canonical Allele Identifier: CA505376767

Gene: TYK2

Linked Data

• COSMIC: COSM3378601
• MyVariant Identifiers: chr19:g.10468766G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10358090G>A , CM000681.2:g.10358090G>A	GRCh38
NC_000019.9:g.10468766G>A , CM000681.1:g.10468766G>A	GRCh37
NC_000019.8:g.10329766G>A	NCBI36
NG_007872.1:g.27483C>T , LRG_121:g.27483C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*573C>T	ENSP00000514307.1:n.*573C>T
ENST00000525976.6:c.2224C>T	ENSP00000434831.2:p.Leu742=
ENST00000527481.3:c.2224C>T	ENSP00000466340.2:p.Leu742=
ENST00000529370.6:n.2555C>T
ENST00000529739.2:n.2638C>T
ENST00000530829.2:c.*1775C>T	ENSP00000436826.2:n.*1775C>T
ENST00000531836.6:c.2224C>T	ENSP00000436175.2:p.Leu742=
ENST00000533334.2:c.*266C>T	ENSP00000432320.2:n.*266C>T
ENST00000534228.2:n.2638C>T
ENST00000699354.1:n.326C>T
ENST00000699355.1:c.*284C>T	ENSP00000514328.1:n.*284C>T
ENST00000699356.1:n.2638C>T
ENST00000699357.1:n.2638C>T
ENST00000699358.1:c.2224C>T	ENSP00000514329.1:p.Leu742=
ENST00000699360.1:c.2224C>T	ENSP00000514331.1:p.Leu742=
ENST00000525621.6:c.2224C>T MANE Select	ENSP00000431885.1:p.Leu742=
ENST00000264818.10:c.2224C>T	ENSP00000264818.6:p.Leu742=
ENST00000524462.5:c.1669C>T	ENSP00000433203.1:p.Leu557=
ENST00000525621.5:c.2224C>T	ENSP00000431885.1:p.Leu742=
ENST00000529370.5:c.2224C>T	ENSP00000432728.1:p.Leu742=
ENST00000533334.1:c.513C>T
NM_003331.4:c.2224C>T , LRG_121t1:c.2224C>T	NP_003322.3:p.Leu742=
XM_011528245.1:c.2224C>T	XP_011526547.1:p.Leu742=
XM_011528246.1:c.1927C>T	XP_011526548.1:p.Leu643=
XM_011528247.1:c.1927C>T	XP_011526549.1:p.Leu643=
XM_011528248.1:c.2224C>T	XP_011526550.1:p.Leu742=
XM_011528249.1:c.898C>T	XP_011526551.1:p.Leu300=
XM_011528251.1:c.481C>T	XP_011526553.1:p.Leu161=
XM_011528246.3:c.1927C>T	XP_011526548.1:p.Leu643=
XM_011528249.2:c.898C>T	XP_011526551.1:p.Leu300=
XR_001753750.1:n.2381C>T
XR_001753751.1:n.2381C>T
XR_001753752.1:n.2493C>T
XR_002958353.1:n.2262C>T
NM_003331.5:c.2224C>T MANE Select	NP_003322.3:p.Leu742=
NM_001385197.1:c.2224C>T	NP_001372126.1:p.Leu742=
NM_001385198.1:c.2224C>T	NP_001372127.1:p.Leu742=
NM_001385199.1:c.2038C>T	NP_001372128.1:p.Leu680=
NM_001385200.1:c.2224C>T	NP_001372129.1:p.Leu742=
NM_001385201.1:c.2026C>T	NP_001372130.1:p.Leu676=
NM_001385202.1:c.2140C>T	NP_001372131.1:p.Leu714=
NM_001385203.1:c.2224C>T	NP_001372132.1:p.Leu742=
NM_001385204.1:c.2224C>T	NP_001372133.1:p.Leu742=
NM_001385205.1:c.2134C>T	NP_001372134.1:p.Leu712=
NM_001385206.1:c.2098C>T	NP_001372135.1:p.Leu700=
NM_001385207.1:c.2206C>T	NP_001372136.1:p.Leu736=