Canonical Allele Identifier: CA2322387030

Gene: TYK2

Linked Data

• dbSNP Id: rs2040848533
• gnomAD v4: 19-10352307-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352307_10352308insAG , CM000681.2:g.10352307_10352308insAG	GRCh38
NC_000019.9:g.10462983_10462984insAG , CM000681.1:g.10462983_10462984insAG	GRCh37
NC_000019.8:g.10323983_10323984insAG	NCBI36
NG_007872.1:g.33265_33266insCT , LRG_121:g.33265_33266insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1667+126_*1667+127insCT	ENSP00000514307.1:n.*1667+126_*1667+127insCT
ENST00000525976.6:c.3318+126_3318+127insCT	ENSP00000434831.2:n.3318+126_3318+127insCT
ENST00000527481.3:c.*88+126_*88+127insCT	ENSP00000466340.2:n.*88+126_*88+127insCT
ENST00000529370.6:n.4694+126_4694+127insCT
ENST00000529739.2:n.4127+126_4127+127insCT
ENST00000530829.2:c.*2869+126_*2869+127insCT	ENSP00000436826.2:n.*2869+126_*2869+127insCT
ENST00000531836.6:c.3318+126_3318+127insCT	ENSP00000436175.2:n.3318+126_3318+127insCT
ENST00000533334.2:c.*1242+618_*1242+619insCT	ENSP00000432320.2:n.*1242+618_*1242+619insCT
ENST00000534228.2:n.5054+618_5054+619insCT
ENST00000699354.1:n.1420+126_1420+127insCT
ENST00000699355.1:c.*2818+126_*2818+127insCT	ENSP00000514328.1:n.*2818+126_*2818+127insCT
ENST00000699356.1:n.4127+126_4127+127insCT
ENST00000699357.1:n.5172+126_5172+127insCT
ENST00000699358.1:c.3200+618_3200+619insCT	ENSP00000514329.1:n.3200+618_3200+619insCT
ENST00000699359.1:c.492+126_492+127insCT
ENST00000699360.1:c.3276+126_3276+127insCT	ENSP00000514331.1:n.3276+126_3276+127insCT
ENST00000699361.1:n.352+126_352+127insCT
ENST00000699362.1:c.214+126_214+127insCT	ENSP00000514332.1:n.214+126_214+127insCT
ENST00000699363.1:c.214+126_214+127insCT	ENSP00000514333.1:n.214+126_214+127insCT
ENST00000699364.1:n.318+126_318+127insCT
ENST00000699365.1:c.387+126_387+127insCT	ENSP00000514334.1:n.387+126_387+127insCT
ENST00000699366.1:n.112-1340_112-1339insCT
ENST00000699367.1:n.112-1146_112-1145insCT
ENST00000699368.1:c.805+126_805+127insCT	ENSP00000514335.1:n.805+126_805+127insCT
ENST00000525621.6:c.3318+126_3318+127insCT MANE Select	ENSP00000431885.1:n.3318+126_3318+127insCT
ENST00000264818.10:c.3318+126_3318+127insCT	ENSP00000264818.6:n.3318+126_3318+127insCT
ENST00000524462.5:c.2763+126_2763+127insCT	ENSP00000433203.1:n.2763+126_2763+127insCT
ENST00000525621.5:c.3318+126_3318+127insCT	ENSP00000431885.1:n.3318+126_3318+127insCT
ENST00000525976.5:c.59+126_59+127insCT
ENST00000527481.2:c.495+126_495+127insCT
ENST00000529422.1:n.116+714_116+715insCT
ENST00000530220.1:n.331+618_331+619insCT
ENST00000530560.5:c.338-1340_338-1339insCT	ENSP00000465291.1:n.338-1340_338-1339insCT
ENST00000592137.1:n.472+126_472+127insCT
NM_003331.4:c.3318+126_3318+127insCT , LRG_121t1:c.3318+126_3318+127insCT	NP_003322.3:n.3318+126_3318+127insCT
XM_011528245.1:c.3318+126_3318+127insCT	XP_011526547.1:n.3318+126_3318+127insCT
XM_011528246.1:c.3021+126_3021+127insCT	XP_011526548.1:n.3021+126_3021+127insCT
XM_011528247.1:c.3021+126_3021+127insCT	XP_011526549.1:n.3021+126_3021+127insCT
XM_011528248.1:c.3200+618_3200+619insCT	XP_011526550.1:n.3200+618_3200+619insCT
XM_011528249.1:c.1992+126_1992+127insCT	XP_011526551.1:n.1992+126_1992+127insCT
XM_011528251.1:c.1575+126_1575+127insCT	XP_011526553.1:n.1575+126_1575+127insCT
XM_011528246.3:c.3021+126_3021+127insCT	XP_011526548.1:n.3021+126_3021+127insCT
XM_011528249.2:c.1992+126_1992+127insCT	XP_011526551.1:n.1992+126_1992+127insCT
XR_001753750.1:n.3357+618_3357+619insCT
XR_001753751.1:n.3870+126_3870+127insCT
XR_002958353.1:n.4796+126_4796+127insCT
NM_003331.5:c.3318+126_3318+127insCT MANE Select	NP_003322.3:n.3318+126_3318+127insCT
NM_001385197.1:c.3318+126_3318+127insCT	NP_001372126.1:n.3318+126_3318+127insCT
NM_001385198.1:c.3168+650_3168+651insCT	NP_001372127.1:n.3168+650_3168+651insCT
NM_001385199.1:c.3132+126_3132+127insCT	NP_001372128.1:n.3132+126_3132+127insCT
NM_001385200.1:c.3315+126_3315+127insCT	NP_001372129.1:n.3315+126_3315+127insCT
NM_001385201.1:c.3120+126_3120+127insCT	NP_001372130.1:n.3120+126_3120+127insCT
NM_001385202.1:c.3234+126_3234+127insCT	NP_001372131.1:n.3234+126_3234+127insCT
NM_001385203.1:c.3399+126_3399+127insCT	NP_001372132.1:n.3399+126_3399+127insCT
NM_001385204.1:c.3528+126_3528+127insCT	NP_001372133.1:n.3528+126_3528+127insCT
NM_001385205.1:c.3228+126_3228+127insCT	NP_001372134.1:n.3228+126_3228+127insCT
NM_001385206.1:c.3192+126_3192+127insCT	NP_001372135.1:n.3192+126_3192+127insCT
NM_001385207.1:c.3300+126_3300+127insCT	NP_001372136.1:n.3300+126_3300+127insCT