Canonical Allele Identifier: CA403982908

Gene: TYK2

Linked Data

• COSMIC: COSM3528194
• MyVariant Identifiers: chr19:g.10463122C>A (hg19) ; chr19:g.10352446C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352446C>A , CM000681.2:g.10352446C>A	GRCh38
NC_000019.9:g.10463122C>A , CM000681.1:g.10463122C>A	GRCh37
NC_000019.8:g.10324122C>A	NCBI36
NG_007872.1:g.33127G>T , LRG_121:g.33127G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524470.2:c.*1655G>T	ENSP00000514307.1:n.*1655G>T
ENST00000525976.6:c.3306G>T	ENSP00000434831.2:p.Gln1102His
ENST00000527481.3:c.*76G>T	ENSP00000466340.2:n.*76G>T
ENST00000529370.6:n.4682G>T
ENST00000529739.2:n.4115G>T
ENST00000530829.2:c.*2857G>T	ENSP00000436826.2:n.*2857G>T
ENST00000531836.6:c.3306G>T	ENSP00000436175.2:p.Gln1102His
ENST00000533334.2:c.*1242+480G>T	ENSP00000432320.2:n.*1242+480G>T
ENST00000534228.2:n.5054+480G>T
ENST00000699354.1:n.1408G>T
ENST00000699355.1:c.*2806G>T	ENSP00000514328.1:n.*2806G>T
ENST00000699356.1:n.4115G>T
ENST00000699357.1:n.5160G>T
ENST00000699358.1:c.3200+480G>T	ENSP00000514329.1:n.3200+480G>T
ENST00000699359.1:c.480G>T
ENST00000699360.1:c.3264G>T	ENSP00000514331.1:p.Gln1088His
ENST00000699361.1:n.340G>T
ENST00000699362.1:c.202G>T	ENSP00000514332.1:n.202G>T
ENST00000699363.1:c.202G>T	ENSP00000514333.1:n.202G>T
ENST00000699364.1:n.306G>T
ENST00000699365.1:c.375G>T	ENSP00000514334.1:p.Gln125His
ENST00000699366.1:n.111+1368G>T
ENST00000699367.1:n.112-1284G>T
ENST00000699368.1:c.793G>T	ENSP00000514335.1:n.793G>T
ENST00000525621.6:c.3306G>T MANE Select	ENSP00000431885.1:p.Gln1102His
ENST00000264818.10:c.3306G>T	ENSP00000264818.6:p.Gln1102His
ENST00000524462.5:c.2751G>T	ENSP00000433203.1:p.Gln917His
ENST00000525621.5:c.3306G>T	ENSP00000431885.1:p.Gln1102His
ENST00000525976.5:c.47G>T
ENST00000527481.2:c.483G>T
ENST00000529422.1:n.116+576G>T
ENST00000529739.1:c.375G>T	ENSP00000436155.1:p.Gln125His
ENST00000530220.1:n.331+480G>T
ENST00000530560.5:c.338-1478G>T	ENSP00000465291.1:n.338-1478G>T
ENST00000592137.1:n.460G>T
NM_003331.4:c.3306G>T , LRG_121t1:c.3306G>T	NP_003322.3:p.Gln1102His
XM_011528245.1:c.3306G>T	XP_011526547.1:p.Gln1102His
XM_011528246.1:c.3009G>T	XP_011526548.1:p.Gln1003His
XM_011528247.1:c.3009G>T	XP_011526549.1:p.Gln1003His
XM_011528248.1:c.3200+480G>T	XP_011526550.1:n.3200+480G>T
XM_011528249.1:c.1980G>T	XP_011526551.1:p.Gln660His
XM_011528251.1:c.1563G>T	XP_011526553.1:p.Gln521His
XM_011528246.3:c.3009G>T	XP_011526548.1:p.Gln1003His
XM_011528249.2:c.1980G>T	XP_011526551.1:p.Gln660His
XR_001753750.1:n.3357+480G>T
XR_001753751.1:n.3858G>T
XR_002958353.1:n.4784G>T
NM_003331.5:c.3306G>T MANE Select	NP_003322.3:p.Gln1102His
NM_001385197.1:c.3306G>T	NP_001372126.1:p.Gln1102His
NM_001385198.1:c.3168+512G>T	NP_001372127.1:n.3168+512G>T
NM_001385199.1:c.3120G>T	NP_001372128.1:p.Gln1040His
NM_001385200.1:c.3303G>T	NP_001372129.1:p.Gln1101His
NM_001385201.1:c.3108G>T	NP_001372130.1:p.Gln1036His
NM_001385202.1:c.3222G>T	NP_001372131.1:p.Gln1074His
NM_001385203.1:c.3387G>T	NP_001372132.1:p.Gln1129His
NM_001385204.1:c.3516G>T	NP_001372133.1:p.Gln1172His
NM_001385205.1:c.3216G>T	NP_001372134.1:p.Gln1072His
NM_001385206.1:c.3180G>T	NP_001372135.1:p.Gln1060His
NM_001385207.1:c.3288G>T	NP_001372136.1:p.Gln1096His