Canonical Allele Identifier: CA403983325

Gene: TYK2

Linked Data

• gnomAD v4: 19-10352537-C-T
• MyVariant Identifiers: chr19:g.10463213C>T (hg19) ; chr19:g.10352537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352537C>T , CM000681.2:g.10352537C>T	GRCh38
NC_000019.9:g.10463213C>T , CM000681.1:g.10463213C>T	GRCh37
NC_000019.8:g.10324213C>T	NCBI36
NG_007872.1:g.33036G>A , LRG_121:g.33036G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1564G>A	ENSP00000514307.1:n.*1564G>A
ENST00000525976.6:c.3215G>A	ENSP00000434831.2:p.Cys1072Tyr
ENST00000527481.3:c.3096G>A	ENSP00000466340.2:p.Val1032=
ENST00000529370.6:n.4591G>A
ENST00000529739.2:n.4024G>A
ENST00000530829.2:c.*2766G>A	ENSP00000436826.2:n.*2766G>A
ENST00000531836.6:c.3215G>A	ENSP00000436175.2:p.Cys1072Tyr
ENST00000533334.2:c.*1242+389G>A	ENSP00000432320.2:n.*1242+389G>A
ENST00000534228.2:n.5054+389G>A
ENST00000699354.1:n.1317G>A
ENST00000699355.1:c.*2715G>A	ENSP00000514328.1:n.*2715G>A
ENST00000699356.1:n.4024G>A
ENST00000699357.1:n.5069G>A
ENST00000699358.1:c.3200+389G>A	ENSP00000514329.1:n.3200+389G>A
ENST00000699359.1:c.389G>A
ENST00000699360.1:c.3173G>A	ENSP00000514331.1:p.Cys1058Tyr
ENST00000699361.1:n.249G>A
ENST00000699362.1:c.111G>A	ENSP00000514332.1:p.Val37=
ENST00000699363.1:c.111G>A	ENSP00000514333.1:p.Val37=
ENST00000699364.1:n.215G>A
ENST00000699365.1:c.284G>A	ENSP00000514334.1:p.Cys95Tyr
ENST00000699366.1:n.111+1277G>A
ENST00000699367.1:n.111+1277G>A
ENST00000699368.1:c.702G>A	ENSP00000514335.1:n.702G>A
ENST00000525621.6:c.3215G>A MANE Select	ENSP00000431885.1:p.Cys1072Tyr
ENST00000264818.10:c.3215G>A	ENSP00000264818.6:p.Cys1072Tyr
ENST00000524462.5:c.2660G>A	ENSP00000433203.1:p.Cys887Tyr
ENST00000525621.5:c.3215G>A	ENSP00000431885.1:p.Cys1072Tyr
ENST00000527481.2:c.392G>A
ENST00000529422.1:n.116+485G>A
ENST00000529739.1:c.284G>A	ENSP00000436155.1:p.Cys95Tyr
ENST00000530220.1:n.331+389G>A
ENST00000530560.5:c.337+1505G>A	ENSP00000465291.1:n.337+1505G>A
ENST00000592137.1:n.369G>A
NM_003331.4:c.3215G>A , LRG_121t1:c.3215G>A	NP_003322.3:p.Cys1072Tyr
XM_011528245.1:c.3215G>A	XP_011526547.1:p.Cys1072Tyr
XM_011528246.1:c.2918G>A	XP_011526548.1:p.Cys973Tyr
XM_011528247.1:c.2918G>A	XP_011526549.1:p.Cys973Tyr
XM_011528248.1:c.3200+389G>A	XP_011526550.1:n.3200+389G>A
XM_011528249.1:c.1889G>A	XP_011526551.1:p.Cys630Tyr
XM_011528251.1:c.1472G>A	XP_011526553.1:p.Cys491Tyr
XM_011528246.3:c.2918G>A	XP_011526548.1:p.Cys973Tyr
XM_011528249.2:c.1889G>A	XP_011526551.1:p.Cys630Tyr
XR_001753750.1:n.3357+389G>A
XR_001753751.1:n.3767G>A
XR_002958353.1:n.4693G>A
NM_003331.5:c.3215G>A MANE Select	NP_003322.3:p.Cys1072Tyr
NM_001385197.1:c.3215G>A	NP_001372126.1:p.Cys1072Tyr
NM_001385198.1:c.3168+421G>A	NP_001372127.1:n.3168+421G>A
NM_001385199.1:c.3029G>A	NP_001372128.1:p.Cys1010Tyr
NM_001385200.1:c.3212G>A	NP_001372129.1:p.Cys1071Tyr
NM_001385201.1:c.3017G>A	NP_001372130.1:p.Cys1006Tyr
NM_001385202.1:c.3131G>A	NP_001372131.1:p.Cys1044Tyr
NM_001385203.1:c.3296G>A	NP_001372132.1:p.Cys1099Tyr
NM_001385204.1:c.3425G>A	NP_001372133.1:p.Cys1142Tyr
NM_001385205.1:c.3125G>A	NP_001372134.1:p.Cys1042Tyr
NM_001385206.1:c.3089G>A	NP_001372135.1:p.Cys1030Tyr
NM_001385207.1:c.3197G>A	NP_001372136.1:p.Cys1066Tyr