Canonical Allele Identifier: CA403998051

Gene: TYK2

Linked Data

• MyVariant Identifiers: chr19:g.10468745C>A (hg19) ; chr19:g.10358069C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10358069C>A , CM000681.2:g.10358069C>A	GRCh38
NC_000019.9:g.10468745C>A , CM000681.1:g.10468745C>A	GRCh37
NC_000019.8:g.10329745C>A	NCBI36
NG_007872.1:g.27504G>T , LRG_121:g.27504G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*594G>T	ENSP00000514307.1:n.*594G>T
ENST00000525976.6:c.2245G>T	ENSP00000434831.2:p.Glu749Ter
ENST00000527481.3:c.2245G>T	ENSP00000466340.2:p.Glu749Ter
ENST00000529370.6:n.2576G>T
ENST00000529739.2:n.2659G>T
ENST00000530829.2:c.*1796G>T	ENSP00000436826.2:n.*1796G>T
ENST00000531836.6:c.2245G>T	ENSP00000436175.2:p.Glu749Ter
ENST00000533334.2:c.*287G>T	ENSP00000432320.2:n.*287G>T
ENST00000534228.2:n.2659G>T
ENST00000699354.1:n.347G>T
ENST00000699355.1:c.*305G>T	ENSP00000514328.1:n.*305G>T
ENST00000699356.1:n.2659G>T
ENST00000699357.1:n.2659G>T
ENST00000699358.1:c.2245G>T	ENSP00000514329.1:p.Glu749Ter
ENST00000699360.1:c.2245G>T	ENSP00000514331.1:p.Glu749Ter
ENST00000525621.6:c.2245G>T MANE Select	ENSP00000431885.1:p.Glu749Ter
ENST00000264818.10:c.2245G>T	ENSP00000264818.6:p.Glu749Ter
ENST00000524462.5:c.1690G>T	ENSP00000433203.1:p.Glu564Ter
ENST00000525621.5:c.2245G>T	ENSP00000431885.1:p.Glu749Ter
ENST00000529370.5:c.2245G>T	ENSP00000432728.1:p.Glu749Ter
ENST00000533334.1:c.534G>T
NM_003331.4:c.2245G>T , LRG_121t1:c.2245G>T	NP_003322.3:p.Glu749Ter
XM_011528245.1:c.2245G>T	XP_011526547.1:p.Glu749Ter
XM_011528246.1:c.1948G>T	XP_011526548.1:p.Glu650Ter
XM_011528247.1:c.1948G>T	XP_011526549.1:p.Glu650Ter
XM_011528248.1:c.2245G>T	XP_011526550.1:p.Glu749Ter
XM_011528249.1:c.919G>T	XP_011526551.1:p.Glu307Ter
XM_011528251.1:c.502G>T	XP_011526553.1:p.Glu168Ter
XM_011528246.3:c.1948G>T	XP_011526548.1:p.Glu650Ter
XM_011528249.2:c.919G>T	XP_011526551.1:p.Glu307Ter
XR_001753750.1:n.2402G>T
XR_001753751.1:n.2402G>T
XR_001753752.1:n.2514G>T
XR_002958353.1:n.2283G>T
NM_003331.5:c.2245G>T MANE Select	NP_003322.3:p.Glu749Ter
NM_001385197.1:c.2245G>T	NP_001372126.1:p.Glu749Ter
NM_001385198.1:c.2245G>T	NP_001372127.1:p.Glu749Ter
NM_001385199.1:c.2059G>T	NP_001372128.1:p.Glu687Ter
NM_001385200.1:c.2245G>T	NP_001372129.1:p.Glu749Ter
NM_001385201.1:c.2047G>T	NP_001372130.1:p.Glu683Ter
NM_001385202.1:c.2161G>T	NP_001372131.1:p.Glu721Ter
NM_001385203.1:c.2245G>T	NP_001372132.1:p.Glu749Ter
NM_001385204.1:c.2245G>T	NP_001372133.1:p.Glu749Ter
NM_001385205.1:c.2155G>T	NP_001372134.1:p.Glu719Ter
NM_001385206.1:c.2119G>T	NP_001372135.1:p.Glu707Ter
NM_001385207.1:c.2227G>T	NP_001372136.1:p.Glu743Ter