Canonical Allele Identifier: CA993441177
Gene: TYK2 HGNC NCBI

Linked Data

dbSNP Id: rs2040845223
gnomAD v3: 19-10352263-C-CA
gnomAD v4: 19-10352263-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10352263_10352264insA , CM000681.2:g.10352263_10352264insA GRCh38
NC_000019.9:g.10462939_10462940insA , CM000681.1:g.10462939_10462940insA GRCh37
NC_000019.8:g.10323939_10323940insA NCBI36
NG_007872.1:g.33309_33310insT , LRG_121:g.33309_33310insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000524470.2:c.*1667+170_*1667+171insT ENSP00000514307.1:n.*1667+170_*1667+171insT
ENST00000525976.6:c.3318+170_3318+171insT ENSP00000434831.2:n.3318+170_3318+171insT
ENST00000527481.3:c.*88+170_*88+171insT ENSP00000466340.2:n.*88+170_*88+171insT
ENST00000529370.6:n.4694+170_4694+171insT
ENST00000529739.2:n.4127+170_4127+171insT
ENST00000530829.2:c.*2869+170_*2869+171insT ENSP00000436826.2:n.*2869+170_*2869+171insT
ENST00000531836.6:c.3318+170_3318+171insT ENSP00000436175.2:n.3318+170_3318+171insT
ENST00000533334.2:c.*1242+662_*1242+663insT ENSP00000432320.2:n.*1242+662_*1242+663insT
ENST00000534228.2:n.5054+662_5054+663insT
ENST00000699354.1:n.1420+170_1420+171insT
ENST00000699355.1:c.*2818+170_*2818+171insT ENSP00000514328.1:n.*2818+170_*2818+171insT
ENST00000699356.1:n.4127+170_4127+171insT
ENST00000699357.1:n.5172+170_5172+171insT
ENST00000699358.1:c.3200+662_3200+663insT ENSP00000514329.1:n.3200+662_3200+663insT
ENST00000699359.1:c.492+170_492+171insT
ENST00000699360.1:c.3276+170_3276+171insT ENSP00000514331.1:n.3276+170_3276+171insT
ENST00000699361.1:n.352+170_352+171insT
ENST00000699362.1:c.214+170_214+171insT ENSP00000514332.1:n.214+170_214+171insT
ENST00000699363.1:c.214+170_214+171insT ENSP00000514333.1:n.214+170_214+171insT
ENST00000699364.1:n.318+170_318+171insT
ENST00000699365.1:c.387+170_387+171insT ENSP00000514334.1:n.387+170_387+171insT
ENST00000699366.1:n.112-1296_112-1295insT
ENST00000699367.1:n.112-1102_112-1101insT
ENST00000699368.1:c.805+170_805+171insT ENSP00000514335.1:n.805+170_805+171insT
ENST00000525621.6:c.3318+170_3318+171insT MANE Select ENSP00000431885.1:n.3318+170_3318+171insT
ENST00000264818.10:c.3318+170_3318+171insT ENSP00000264818.6:n.3318+170_3318+171insT
ENST00000524462.5:c.2763+170_2763+171insT ENSP00000433203.1:n.2763+170_2763+171insT
ENST00000525621.5:c.3318+170_3318+171insT ENSP00000431885.1:n.3318+170_3318+171insT
ENST00000525976.5:c.59+170_59+171insT
ENST00000527481.2:c.495+170_495+171insT
ENST00000529422.1:n.116+758_116+759insT
ENST00000530220.1:n.331+662_331+663insT
ENST00000530560.5:c.338-1296_338-1295insT ENSP00000465291.1:n.338-1296_338-1295insT
ENST00000592137.1:n.472+170_472+171insT
NM_003331.4:c.3318+170_3318+171insT , LRG_121t1:c.3318+170_3318+171insT NP_003322.3:n.3318+170_3318+171insT
XM_011528245.1:c.3318+170_3318+171insT XP_011526547.1:n.3318+170_3318+171insT
XM_011528246.1:c.3021+170_3021+171insT XP_011526548.1:n.3021+170_3021+171insT
XM_011528247.1:c.3021+170_3021+171insT XP_011526549.1:n.3021+170_3021+171insT
XM_011528248.1:c.3200+662_3200+663insT XP_011526550.1:n.3200+662_3200+663insT
XM_011528249.1:c.1992+170_1992+171insT XP_011526551.1:n.1992+170_1992+171insT
XM_011528251.1:c.1575+170_1575+171insT XP_011526553.1:n.1575+170_1575+171insT
XM_011528246.3:c.3021+170_3021+171insT XP_011526548.1:n.3021+170_3021+171insT
XM_011528249.2:c.1992+170_1992+171insT XP_011526551.1:n.1992+170_1992+171insT
XR_001753750.1:n.3357+662_3357+663insT
XR_001753751.1:n.3870+170_3870+171insT
XR_002958353.1:n.4796+170_4796+171insT
NM_003331.5:c.3318+170_3318+171insT MANE Select NP_003322.3:n.3318+170_3318+171insT
NM_001385197.1:c.3318+170_3318+171insT NP_001372126.1:n.3318+170_3318+171insT
NM_001385198.1:c.3168+694_3168+695insT NP_001372127.1:n.3168+694_3168+695insT
NM_001385199.1:c.3132+170_3132+171insT NP_001372128.1:n.3132+170_3132+171insT
NM_001385200.1:c.3315+170_3315+171insT NP_001372129.1:n.3315+170_3315+171insT
NM_001385201.1:c.3120+170_3120+171insT NP_001372130.1:n.3120+170_3120+171insT
NM_001385202.1:c.3234+170_3234+171insT NP_001372131.1:n.3234+170_3234+171insT
NM_001385203.1:c.3399+170_3399+171insT NP_001372132.1:n.3399+170_3399+171insT
NM_001385204.1:c.3528+170_3528+171insT NP_001372133.1:n.3528+170_3528+171insT
NM_001385205.1:c.3228+170_3228+171insT NP_001372134.1:n.3228+170_3228+171insT
NM_001385206.1:c.3192+170_3192+171insT NP_001372135.1:n.3192+170_3192+171insT
NM_001385207.1:c.3300+170_3300+171insT NP_001372136.1:n.3300+170_3300+171insT
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