Canonical Allele Identifier: CA403983351

Gene: TYK2

Linked Data

• gnomAD v4: 19-10352548-A-C
• MyVariant Identifiers: chr19:g.10463224A>C (hg19) ; chr19:g.10352548A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352548A>C , CM000681.2:g.10352548A>C	GRCh38
NC_000019.9:g.10463224A>C , CM000681.1:g.10463224A>C	GRCh37
NC_000019.8:g.10324224A>C	NCBI36
NG_007872.1:g.33025T>G , LRG_121:g.33025T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1553T>G	ENSP00000514307.1:n.*1553T>G
ENST00000525976.6:c.3204T>G	ENSP00000434831.2:p.Tyr1068Ter
ENST00000527481.3:c.3085T>G	ENSP00000466340.2:p.Cys1029Gly
ENST00000529370.6:n.4580T>G
ENST00000529739.2:n.4013T>G
ENST00000530829.2:c.*2755T>G	ENSP00000436826.2:n.*2755T>G
ENST00000531836.6:c.3204T>G	ENSP00000436175.2:p.Tyr1068Ter
ENST00000533334.2:c.*1242+378T>G	ENSP00000432320.2:n.*1242+378T>G
ENST00000534228.2:n.5054+378T>G
ENST00000699354.1:n.1306T>G
ENST00000699355.1:c.*2704T>G	ENSP00000514328.1:n.*2704T>G
ENST00000699356.1:n.4013T>G
ENST00000699357.1:n.5058T>G
ENST00000699358.1:c.3200+378T>G	ENSP00000514329.1:n.3200+378T>G
ENST00000699359.1:c.378T>G
ENST00000699360.1:c.3162T>G	ENSP00000514331.1:p.Tyr1054Ter
ENST00000699361.1:n.238T>G
ENST00000699362.1:c.100T>G	ENSP00000514332.1:p.Cys34Gly
ENST00000699363.1:c.100T>G	ENSP00000514333.1:p.Cys34Gly
ENST00000699364.1:n.204T>G
ENST00000699365.1:c.273T>G	ENSP00000514334.1:p.Tyr91Ter
ENST00000699366.1:n.111+1266T>G
ENST00000699367.1:n.111+1266T>G
ENST00000699368.1:c.691T>G	ENSP00000514335.1:n.691T>G
ENST00000525621.6:c.3204T>G MANE Select	ENSP00000431885.1:p.Tyr1068Ter
ENST00000264818.10:c.3204T>G	ENSP00000264818.6:p.Tyr1068Ter
ENST00000524462.5:c.2649T>G	ENSP00000433203.1:p.Tyr883Ter
ENST00000525621.5:c.3204T>G	ENSP00000431885.1:p.Tyr1068Ter
ENST00000527481.2:c.381T>G
ENST00000529422.1:n.116+474T>G
ENST00000529739.1:c.273T>G	ENSP00000436155.1:p.Tyr91Ter
ENST00000530220.1:n.331+378T>G
ENST00000530560.5:c.337+1494T>G	ENSP00000465291.1:n.337+1494T>G
ENST00000592137.1:n.358T>G
NM_003331.4:c.3204T>G , LRG_121t1:c.3204T>G	NP_003322.3:p.Tyr1068Ter
XM_011528245.1:c.3204T>G	XP_011526547.1:p.Tyr1068Ter
XM_011528246.1:c.2907T>G	XP_011526548.1:p.Tyr969Ter
XM_011528247.1:c.2907T>G	XP_011526549.1:p.Tyr969Ter
XM_011528248.1:c.3200+378T>G	XP_011526550.1:n.3200+378T>G
XM_011528249.1:c.1878T>G	XP_011526551.1:p.Tyr626Ter
XM_011528251.1:c.1461T>G	XP_011526553.1:p.Tyr487Ter
XM_011528246.3:c.2907T>G	XP_011526548.1:p.Tyr969Ter
XM_011528249.2:c.1878T>G	XP_011526551.1:p.Tyr626Ter
XR_001753750.1:n.3357+378T>G
XR_001753751.1:n.3756T>G
XR_002958353.1:n.4682T>G
NM_003331.5:c.3204T>G MANE Select	NP_003322.3:p.Tyr1068Ter
NM_001385197.1:c.3204T>G	NP_001372126.1:p.Tyr1068Ter
NM_001385198.1:c.3168+410T>G	NP_001372127.1:n.3168+410T>G
NM_001385199.1:c.3018T>G	NP_001372128.1:p.Tyr1006Ter
NM_001385200.1:c.3201T>G	NP_001372129.1:p.Tyr1067Ter
NM_001385201.1:c.3006T>G	NP_001372130.1:p.Tyr1002Ter
NM_001385202.1:c.3120T>G	NP_001372131.1:p.Tyr1040Ter
NM_001385203.1:c.3285T>G	NP_001372132.1:p.Tyr1095Ter
NM_001385204.1:c.3414T>G	NP_001372133.1:p.Tyr1138Ter
NM_001385205.1:c.3114T>G	NP_001372134.1:p.Tyr1038Ter
NM_001385206.1:c.3078T>G	NP_001372135.1:p.Tyr1026Ter
NM_001385207.1:c.3186T>G	NP_001372136.1:p.Tyr1062Ter