Canonical Allele Identifier: CA993441472

Gene: TYK2

Linked Data

• dbSNP Id: rs2040878654
• gnomAD v3: 19-10352805-G-A
• gnomAD v4: 19-10352805-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352805G>A , CM000681.2:g.10352805G>A	GRCh38
NC_000019.9:g.10463481G>A , CM000681.1:g.10463481G>A	GRCh37
NC_000019.8:g.10324481G>A	NCBI36
NG_007872.1:g.32768C>T , LRG_121:g.32768C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1549+121C>T	ENSP00000514307.1:n.*1549+121C>T
ENST00000525976.6:c.3200+121C>T	ENSP00000434831.2:n.3200+121C>T
ENST00000527481.3:c.3081+121C>T	ENSP00000466340.2:n.3081+121C>T
ENST00000529370.6:n.4576+121C>T
ENST00000529739.2:n.4009+121C>T
ENST00000530829.2:c.*2751+121C>T	ENSP00000436826.2:n.*2751+121C>T
ENST00000531836.6:c.3200+121C>T	ENSP00000436175.2:n.3200+121C>T
ENST00000533334.2:c.*1242+121C>T	ENSP00000432320.2:n.*1242+121C>T
ENST00000534228.2:n.5054+121C>T
ENST00000699354.1:n.1302+121C>T
ENST00000699355.1:c.*2700+121C>T	ENSP00000514328.1:n.*2700+121C>T
ENST00000699356.1:n.4009+121C>T
ENST00000699357.1:n.5054+121C>T
ENST00000699358.1:c.3200+121C>T	ENSP00000514329.1:n.3200+121C>T
ENST00000699359.1:c.374+153C>T
ENST00000699360.1:c.3158+163C>T	ENSP00000514331.1:n.3158+163C>T
ENST00000699362.1:c.97-254C>T	ENSP00000514332.1:n.97-254C>T
ENST00000699363.1:c.97-254C>T	ENSP00000514333.1:n.97-254C>T
ENST00000699364.1:n.200+121C>T
ENST00000699365.1:c.269+121C>T	ENSP00000514334.1:n.269+121C>T
ENST00000699366.1:n.111+1009C>T
ENST00000699367.1:n.111+1009C>T
ENST00000699368.1:c.687+121C>T	ENSP00000514335.1:n.687+121C>T
ENST00000525621.6:c.3200+121C>T MANE Select	ENSP00000431885.1:n.3200+121C>T
ENST00000264818.10:c.3200+121C>T	ENSP00000264818.6:n.3200+121C>T
ENST00000524462.5:c.2645+121C>T	ENSP00000433203.1:n.2645+121C>T
ENST00000525621.5:c.3200+121C>T	ENSP00000431885.1:n.3200+121C>T
ENST00000527481.2:c.377+121C>T
ENST00000529422.1:n.116+217C>T
ENST00000529739.1:c.269+121C>T	ENSP00000436155.1:n.269+121C>T
ENST00000530220.1:n.331+121C>T
ENST00000530560.5:c.337+1237C>T	ENSP00000465291.1:n.337+1237C>T
ENST00000592137.1:n.354+121C>T
NM_003331.4:c.3200+121C>T , LRG_121t1:c.3200+121C>T	NP_003322.3:n.3200+121C>T
XM_011528245.1:c.3200+121C>T	XP_011526547.1:n.3200+121C>T
XM_011528246.1:c.2903+121C>T	XP_011526548.1:n.2903+121C>T
XM_011528247.1:c.2903+121C>T	XP_011526549.1:n.2903+121C>T
XM_011528248.1:c.3200+121C>T	XP_011526550.1:n.3200+121C>T
XM_011528249.1:c.1874+121C>T	XP_011526551.1:n.1874+121C>T
XM_011528251.1:c.1457+121C>T	XP_011526553.1:n.1457+121C>T
XM_011528246.3:c.2903+121C>T	XP_011526548.1:n.2903+121C>T
XM_011528249.2:c.1874+121C>T	XP_011526551.1:n.1874+121C>T
XR_001753750.1:n.3357+121C>T
XR_001753751.1:n.3752+121C>T
XR_002958353.1:n.4678+121C>T
NM_003331.5:c.3200+121C>T MANE Select	NP_003322.3:n.3200+121C>T
NM_001385197.1:c.3200+121C>T	NP_001372126.1:n.3200+121C>T
NM_001385198.1:c.3168+153C>T	NP_001372127.1:n.3168+153C>T
NM_001385199.1:c.3014+121C>T	NP_001372128.1:n.3014+121C>T
NM_001385200.1:c.3197+121C>T	NP_001372129.1:n.3197+121C>T
NM_001385201.1:c.3002+121C>T	NP_001372130.1:n.3002+121C>T
NM_001385202.1:c.3116+121C>T	NP_001372131.1:n.3116+121C>T
NM_001385203.1:c.3281+121C>T	NP_001372132.1:n.3281+121C>T
NM_001385204.1:c.3410+121C>T	NP_001372133.1:n.3410+121C>T
NM_001385205.1:c.3110+121C>T	NP_001372134.1:n.3110+121C>T
NM_001385206.1:c.3074+121C>T	NP_001372135.1:n.3074+121C>T
NM_001385207.1:c.3182+121C>T	NP_001372136.1:n.3182+121C>T