Canonical Allele Identifier: CA993441190

Gene: TYK2

Linked Data

• dbSNP Id: rs2040846118
• gnomAD v3: 19-10352273-C-CAG
• gnomAD v4: 19-10352273-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352273_10352274insAG , CM000681.2:g.10352273_10352274insAG	GRCh38
NC_000019.9:g.10462949_10462950insAG , CM000681.1:g.10462949_10462950insAG	GRCh37
NC_000019.8:g.10323949_10323950insAG	NCBI36
NG_007872.1:g.33299_33300insCT , LRG_121:g.33299_33300insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1667+160_*1667+161insCT	ENSP00000514307.1:n.*1667+160_*1667+161insCT
ENST00000525976.6:c.3318+160_3318+161insCT	ENSP00000434831.2:n.3318+160_3318+161insCT
ENST00000527481.3:c.*88+160_*88+161insCT	ENSP00000466340.2:n.*88+160_*88+161insCT
ENST00000529370.6:n.4694+160_4694+161insCT
ENST00000529739.2:n.4127+160_4127+161insCT
ENST00000530829.2:c.*2869+160_*2869+161insCT	ENSP00000436826.2:n.*2869+160_*2869+161insCT
ENST00000531836.6:c.3318+160_3318+161insCT	ENSP00000436175.2:n.3318+160_3318+161insCT
ENST00000533334.2:c.*1242+652_*1242+653insCT	ENSP00000432320.2:n.*1242+652_*1242+653insCT
ENST00000534228.2:n.5054+652_5054+653insCT
ENST00000699354.1:n.1420+160_1420+161insCT
ENST00000699355.1:c.*2818+160_*2818+161insCT	ENSP00000514328.1:n.*2818+160_*2818+161insCT
ENST00000699356.1:n.4127+160_4127+161insCT
ENST00000699357.1:n.5172+160_5172+161insCT
ENST00000699358.1:c.3200+652_3200+653insCT	ENSP00000514329.1:n.3200+652_3200+653insCT
ENST00000699359.1:c.492+160_492+161insCT
ENST00000699360.1:c.3276+160_3276+161insCT	ENSP00000514331.1:n.3276+160_3276+161insCT
ENST00000699361.1:n.352+160_352+161insCT
ENST00000699362.1:c.214+160_214+161insCT	ENSP00000514332.1:n.214+160_214+161insCT
ENST00000699363.1:c.214+160_214+161insCT	ENSP00000514333.1:n.214+160_214+161insCT
ENST00000699364.1:n.318+160_318+161insCT
ENST00000699365.1:c.387+160_387+161insCT	ENSP00000514334.1:n.387+160_387+161insCT
ENST00000699366.1:n.112-1306_112-1305insCT
ENST00000699367.1:n.112-1112_112-1111insCT
ENST00000699368.1:c.805+160_805+161insCT	ENSP00000514335.1:n.805+160_805+161insCT
ENST00000525621.6:c.3318+160_3318+161insCT MANE Select	ENSP00000431885.1:n.3318+160_3318+161insCT
ENST00000264818.10:c.3318+160_3318+161insCT	ENSP00000264818.6:n.3318+160_3318+161insCT
ENST00000524462.5:c.2763+160_2763+161insCT	ENSP00000433203.1:n.2763+160_2763+161insCT
ENST00000525621.5:c.3318+160_3318+161insCT	ENSP00000431885.1:n.3318+160_3318+161insCT
ENST00000525976.5:c.59+160_59+161insCT
ENST00000527481.2:c.495+160_495+161insCT
ENST00000529422.1:n.116+748_116+749insCT
ENST00000530220.1:n.331+652_331+653insCT
ENST00000530560.5:c.338-1306_338-1305insCT	ENSP00000465291.1:n.338-1306_338-1305insCT
ENST00000592137.1:n.472+160_472+161insCT
NM_003331.4:c.3318+160_3318+161insCT , LRG_121t1:c.3318+160_3318+161insCT	NP_003322.3:n.3318+160_3318+161insCT
XM_011528245.1:c.3318+160_3318+161insCT	XP_011526547.1:n.3318+160_3318+161insCT
XM_011528246.1:c.3021+160_3021+161insCT	XP_011526548.1:n.3021+160_3021+161insCT
XM_011528247.1:c.3021+160_3021+161insCT	XP_011526549.1:n.3021+160_3021+161insCT
XM_011528248.1:c.3200+652_3200+653insCT	XP_011526550.1:n.3200+652_3200+653insCT
XM_011528249.1:c.1992+160_1992+161insCT	XP_011526551.1:n.1992+160_1992+161insCT
XM_011528251.1:c.1575+160_1575+161insCT	XP_011526553.1:n.1575+160_1575+161insCT
XM_011528246.3:c.3021+160_3021+161insCT	XP_011526548.1:n.3021+160_3021+161insCT
XM_011528249.2:c.1992+160_1992+161insCT	XP_011526551.1:n.1992+160_1992+161insCT
XR_001753750.1:n.3357+652_3357+653insCT
XR_001753751.1:n.3870+160_3870+161insCT
XR_002958353.1:n.4796+160_4796+161insCT
NM_003331.5:c.3318+160_3318+161insCT MANE Select	NP_003322.3:n.3318+160_3318+161insCT
NM_001385197.1:c.3318+160_3318+161insCT	NP_001372126.1:n.3318+160_3318+161insCT
NM_001385198.1:c.3168+684_3168+685insCT	NP_001372127.1:n.3168+684_3168+685insCT
NM_001385199.1:c.3132+160_3132+161insCT	NP_001372128.1:n.3132+160_3132+161insCT
NM_001385200.1:c.3315+160_3315+161insCT	NP_001372129.1:n.3315+160_3315+161insCT
NM_001385201.1:c.3120+160_3120+161insCT	NP_001372130.1:n.3120+160_3120+161insCT
NM_001385202.1:c.3234+160_3234+161insCT	NP_001372131.1:n.3234+160_3234+161insCT
NM_001385203.1:c.3399+160_3399+161insCT	NP_001372132.1:n.3399+160_3399+161insCT
NM_001385204.1:c.3528+160_3528+161insCT	NP_001372133.1:n.3528+160_3528+161insCT
NM_001385205.1:c.3228+160_3228+161insCT	NP_001372134.1:n.3228+160_3228+161insCT
NM_001385206.1:c.3192+160_3192+161insCT	NP_001372135.1:n.3192+160_3192+161insCT
NM_001385207.1:c.3300+160_3300+161insCT	NP_001372136.1:n.3300+160_3300+161insCT