Canonical Allele Identifier: CA993441107

Gene: TYK2

Linked Data

• dbSNP Id: rs2040835128
• gnomAD v3: 19-10352085-CTG-C
• gnomAD v4: 19-10352085-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352087_10352088del , CM000681.2:g.10352087_10352088del	GRCh38
NC_000019.9:g.10462763_10462764del , CM000681.1:g.10462763_10462764del	GRCh37
NC_000019.8:g.10323763_10323764del	NCBI36
NG_007872.1:g.33486_33487del , LRG_121:g.33486_33487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1667+347_*1667+348del	ENSP00000514307.1:n.*1667+347_*1667+348del
ENST00000525976.6:c.3318+347_3318+348del	ENSP00000434831.2:n.3318+347_3318+348del
ENST00000527481.3:c.*88+347_*88+348del	ENSP00000466340.2:n.*88+347_*88+348del
ENST00000529370.6:n.4694+347_4694+348del
ENST00000529739.2:n.4127+347_4127+348del
ENST00000530829.2:c.*2869+347_*2869+348del	ENSP00000436826.2:n.*2869+347_*2869+348del
ENST00000531836.6:c.3318+347_3318+348del	ENSP00000436175.2:n.3318+347_3318+348del
ENST00000533334.2:c.*1242+839_*1242+840del	ENSP00000432320.2:n.*1242+839_*1242+840del
ENST00000534228.2:n.5054+839_5054+840del
ENST00000699354.1:n.1420+347_1420+348del
ENST00000699355.1:c.*2818+347_*2818+348del	ENSP00000514328.1:n.*2818+347_*2818+348del
ENST00000699356.1:n.4127+347_4127+348del
ENST00000699357.1:n.5172+347_5172+348del
ENST00000699358.1:c.3200+839_3200+840del	ENSP00000514329.1:n.3200+839_3200+840del
ENST00000699359.1:c.492+347_492+348del
ENST00000699360.1:c.3276+347_3276+348del	ENSP00000514331.1:n.3276+347_3276+348del
ENST00000699361.1:n.352+347_352+348del
ENST00000699362.1:c.214+347_214+348del	ENSP00000514332.1:n.214+347_214+348del
ENST00000699363.1:c.214+347_214+348del	ENSP00000514333.1:n.214+347_214+348del
ENST00000699364.1:n.318+347_318+348del
ENST00000699365.1:c.387+347_387+348del	ENSP00000514334.1:n.387+347_387+348del
ENST00000699366.1:n.112-1119_112-1118del
ENST00000699367.1:n.112-925_112-924del
ENST00000699368.1:c.805+347_805+348del	ENSP00000514335.1:n.805+347_805+348del
ENST00000525621.6:c.3318+347_3318+348del MANE Select	ENSP00000431885.1:n.3318+347_3318+348del
ENST00000264818.10:c.3318+347_3318+348del	ENSP00000264818.6:n.3318+347_3318+348del
ENST00000524462.5:c.2763+347_2763+348del	ENSP00000433203.1:n.2763+347_2763+348del
ENST00000525621.5:c.3318+347_3318+348del	ENSP00000431885.1:n.3318+347_3318+348del
ENST00000525976.5:c.59+347_59+348del
ENST00000527481.2:c.495+347_495+348del
ENST00000529422.1:n.117-794_117-793del
ENST00000530220.1:n.331+839_331+840del
ENST00000530560.5:c.338-1119_338-1118del	ENSP00000465291.1:n.338-1119_338-1118del
ENST00000592137.1:n.472+347_472+348del
NM_003331.4:c.3318+347_3318+348del , LRG_121t1:c.3318+347_3318+348del	NP_003322.3:n.3318+347_3318+348del
XM_011528245.1:c.3318+347_3318+348del	XP_011526547.1:n.3318+347_3318+348del
XM_011528246.1:c.3021+347_3021+348del	XP_011526548.1:n.3021+347_3021+348del
XM_011528247.1:c.3021+347_3021+348del	XP_011526549.1:n.3021+347_3021+348del
XM_011528248.1:c.3200+839_3200+840del	XP_011526550.1:n.3200+839_3200+840del
XM_011528249.1:c.1992+347_1992+348del	XP_011526551.1:n.1992+347_1992+348del
XM_011528251.1:c.1575+347_1575+348del	XP_011526553.1:n.1575+347_1575+348del
XM_011528246.3:c.3021+347_3021+348del	XP_011526548.1:n.3021+347_3021+348del
XM_011528249.2:c.1992+347_1992+348del	XP_011526551.1:n.1992+347_1992+348del
XR_001753750.1:n.3357+839_3357+840del
XR_001753751.1:n.3870+347_3870+348del
XR_002958353.1:n.4796+347_4796+348del
NM_003331.5:c.3318+347_3318+348del MANE Select	NP_003322.3:n.3318+347_3318+348del
NM_001385197.1:c.3318+347_3318+348del	NP_001372126.1:n.3318+347_3318+348del
NM_001385198.1:c.3168+871_3168+872del	NP_001372127.1:n.3168+871_3168+872del
NM_001385199.1:c.3132+347_3132+348del	NP_001372128.1:n.3132+347_3132+348del
NM_001385200.1:c.3315+347_3315+348del	NP_001372129.1:n.3315+347_3315+348del
NM_001385201.1:c.3120+347_3120+348del	NP_001372130.1:n.3120+347_3120+348del
NM_001385202.1:c.3234+347_3234+348del	NP_001372131.1:n.3234+347_3234+348del
NM_001385203.1:c.3399+347_3399+348del	NP_001372132.1:n.3399+347_3399+348del
NM_001385204.1:c.3528+347_3528+348del	NP_001372133.1:n.3528+347_3528+348del
NM_001385205.1:c.3228+347_3228+348del	NP_001372134.1:n.3228+347_3228+348del
NM_001385206.1:c.3192+347_3192+348del	NP_001372135.1:n.3192+347_3192+348del
NM_001385207.1:c.3300+347_3300+348del	NP_001372136.1:n.3300+347_3300+348del