Canonical Allele Identifier: CA305192435

Gene: TYK2

Linked Data

• dbSNP Id: rs958861312
• gnomAD v2: 19-10462809-G-A
• gnomAD v3: 19-10352133-G-A
• gnomAD v4: 19-10352133-G-A
• MyVariant Identifiers: chr19:g.10462809G>A (hg19) ; chr19:g.10352133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352133G>A , CM000681.2:g.10352133G>A	GRCh38
NC_000019.9:g.10462809G>A , CM000681.1:g.10462809G>A	GRCh37
NC_000019.8:g.10323809G>A	NCBI36
NG_007872.1:g.33440C>T , LRG_121:g.33440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1667+301C>T	ENSP00000514307.1:n.*1667+301C>T
ENST00000525976.6:c.3318+301C>T	ENSP00000434831.2:n.3318+301C>T
ENST00000527481.3:c.*88+301C>T	ENSP00000466340.2:n.*88+301C>T
ENST00000529370.6:n.4694+301C>T
ENST00000529739.2:n.4127+301C>T
ENST00000530829.2:c.*2869+301C>T	ENSP00000436826.2:n.*2869+301C>T
ENST00000531836.6:c.3318+301C>T	ENSP00000436175.2:n.3318+301C>T
ENST00000533334.2:c.*1242+793C>T	ENSP00000432320.2:n.*1242+793C>T
ENST00000534228.2:n.5054+793C>T
ENST00000699354.1:n.1420+301C>T
ENST00000699355.1:c.*2818+301C>T	ENSP00000514328.1:n.*2818+301C>T
ENST00000699356.1:n.4127+301C>T
ENST00000699357.1:n.5172+301C>T
ENST00000699358.1:c.3200+793C>T	ENSP00000514329.1:n.3200+793C>T
ENST00000699359.1:c.492+301C>T
ENST00000699360.1:c.3276+301C>T	ENSP00000514331.1:n.3276+301C>T
ENST00000699361.1:n.352+301C>T
ENST00000699362.1:c.214+301C>T	ENSP00000514332.1:n.214+301C>T
ENST00000699363.1:c.214+301C>T	ENSP00000514333.1:n.214+301C>T
ENST00000699364.1:n.318+301C>T
ENST00000699365.1:c.387+301C>T	ENSP00000514334.1:n.387+301C>T
ENST00000699366.1:n.112-1165C>T
ENST00000699367.1:n.112-971C>T
ENST00000699368.1:c.805+301C>T	ENSP00000514335.1:n.805+301C>T
ENST00000525621.6:c.3318+301C>T MANE Select	ENSP00000431885.1:n.3318+301C>T
ENST00000264818.10:c.3318+301C>T	ENSP00000264818.6:n.3318+301C>T
ENST00000524462.5:c.2763+301C>T	ENSP00000433203.1:n.2763+301C>T
ENST00000525621.5:c.3318+301C>T	ENSP00000431885.1:n.3318+301C>T
ENST00000525976.5:c.59+301C>T
ENST00000527481.2:c.495+301C>T
ENST00000529422.1:n.117-840C>T
ENST00000530220.1:n.331+793C>T
ENST00000530560.5:c.338-1165C>T	ENSP00000465291.1:n.338-1165C>T
ENST00000592137.1:n.472+301C>T
NM_003331.4:c.3318+301C>T , LRG_121t1:c.3318+301C>T	NP_003322.3:n.3318+301C>T
XM_011528245.1:c.3318+301C>T	XP_011526547.1:n.3318+301C>T
XM_011528246.1:c.3021+301C>T	XP_011526548.1:n.3021+301C>T
XM_011528247.1:c.3021+301C>T	XP_011526549.1:n.3021+301C>T
XM_011528248.1:c.3200+793C>T	XP_011526550.1:n.3200+793C>T
XM_011528249.1:c.1992+301C>T	XP_011526551.1:n.1992+301C>T
XM_011528251.1:c.1575+301C>T	XP_011526553.1:n.1575+301C>T
XM_011528246.3:c.3021+301C>T	XP_011526548.1:n.3021+301C>T
XM_011528249.2:c.1992+301C>T	XP_011526551.1:n.1992+301C>T
XR_001753750.1:n.3357+793C>T
XR_001753751.1:n.3870+301C>T
XR_002958353.1:n.4796+301C>T
NM_003331.5:c.3318+301C>T MANE Select	NP_003322.3:n.3318+301C>T
NM_001385197.1:c.3318+301C>T	NP_001372126.1:n.3318+301C>T
NM_001385198.1:c.3168+825C>T	NP_001372127.1:n.3168+825C>T
NM_001385199.1:c.3132+301C>T	NP_001372128.1:n.3132+301C>T
NM_001385200.1:c.3315+301C>T	NP_001372129.1:n.3315+301C>T
NM_001385201.1:c.3120+301C>T	NP_001372130.1:n.3120+301C>T
NM_001385202.1:c.3234+301C>T	NP_001372131.1:n.3234+301C>T
NM_001385203.1:c.3399+301C>T	NP_001372132.1:n.3399+301C>T
NM_001385204.1:c.3528+301C>T	NP_001372133.1:n.3528+301C>T
NM_001385205.1:c.3228+301C>T	NP_001372134.1:n.3228+301C>T
NM_001385206.1:c.3192+301C>T	NP_001372135.1:n.3192+301C>T
NM_001385207.1:c.3300+301C>T	NP_001372136.1:n.3300+301C>T