Canonical Allele Identifier: CA403995088

Gene: TYK2

Linked Data

• ClinVar Variation Id: 1411851
• ClinVar RCV Id: RCV001922961
• dbSNP Id: rs1220172517
• MyVariant Identifiers: chr19:g.10468448G>T (hg19) ; chr19:g.10357772G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10357772G>T , CM000681.2:g.10357772G>T	GRCh38
NC_000019.9:g.10468448G>T , CM000681.1:g.10468448G>T	GRCh37
NC_000019.8:g.10329448G>T	NCBI36
NG_007872.1:g.27801C>A , LRG_121:g.27801C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*807C>A	ENSP00000514307.1:n.*807C>A
ENST00000525976.6:c.2458C>A	ENSP00000434831.2:p.Pro820Thr
ENST00000527481.3:c.2458C>A	ENSP00000466340.2:p.Pro820Thr
ENST00000529370.6:n.2789C>A
ENST00000529739.2:n.2872C>A
ENST00000530829.2:c.*2009C>A	ENSP00000436826.2:n.*2009C>A
ENST00000531836.6:c.2458C>A	ENSP00000436175.2:p.Pro820Thr
ENST00000533334.2:c.*500C>A	ENSP00000432320.2:n.*500C>A
ENST00000534228.2:n.2872C>A
ENST00000699354.1:n.560C>A
ENST00000699355.1:c.*518C>A	ENSP00000514328.1:n.*518C>A
ENST00000699356.1:n.2872C>A
ENST00000699357.1:n.2872C>A
ENST00000699358.1:c.2458C>A	ENSP00000514329.1:p.Pro820Thr
ENST00000699360.1:c.2458C>A	ENSP00000514331.1:p.Pro820Thr
ENST00000525621.6:c.2458C>A MANE Select	ENSP00000431885.1:p.Pro820Thr
ENST00000264818.10:c.2458C>A	ENSP00000264818.6:p.Pro820Thr
ENST00000524462.5:c.1903C>A	ENSP00000433203.1:p.Pro635Thr
ENST00000525621.5:c.2458C>A	ENSP00000431885.1:p.Pro820Thr
ENST00000529370.5:c.2458C>A	ENSP00000432728.1:p.Pro820Thr
ENST00000529412.1:n.130C>A
NM_003331.4:c.2458C>A , LRG_121t1:c.2458C>A	NP_003322.3:p.Pro820Thr
XM_011528245.1:c.2458C>A	XP_011526547.1:p.Pro820Thr
XM_011528246.1:c.2161C>A	XP_011526548.1:p.Pro721Thr
XM_011528247.1:c.2161C>A	XP_011526549.1:p.Pro721Thr
XM_011528248.1:c.2458C>A	XP_011526550.1:p.Pro820Thr
XM_011528249.1:c.1132C>A	XP_011526551.1:p.Pro378Thr
XM_011528251.1:c.715C>A	XP_011526553.1:p.Pro239Thr
XM_011528246.3:c.2161C>A	XP_011526548.1:p.Pro721Thr
XM_011528249.2:c.1132C>A	XP_011526551.1:p.Pro378Thr
XR_001753750.1:n.2615C>A
XR_001753751.1:n.2615C>A
XR_002958353.1:n.2496C>A
NM_003331.5:c.2458C>A MANE Select	NP_003322.3:p.Pro820Thr
NM_001385197.1:c.2458C>A	NP_001372126.1:p.Pro820Thr
NM_001385198.1:c.2458C>A	NP_001372127.1:p.Pro820Thr
NM_001385199.1:c.2272C>A	NP_001372128.1:p.Pro758Thr
NM_001385200.1:c.2458C>A	NP_001372129.1:p.Pro820Thr
NM_001385201.1:c.2260C>A	NP_001372130.1:p.Pro754Thr
NM_001385202.1:c.2374C>A	NP_001372131.1:p.Pro792Thr
NM_001385203.1:c.2458C>A	NP_001372132.1:p.Pro820Thr
NM_001385204.1:c.2458C>A	NP_001372133.1:p.Pro820Thr
NM_001385205.1:c.2368C>A	NP_001372134.1:p.Pro790Thr
NM_001385206.1:c.2332C>A	NP_001372135.1:p.Pro778Thr
NM_001385207.1:c.2440C>A	NP_001372136.1:p.Pro814Thr