Canonical Allele Identifier: CA403995235

Gene: TYK2

Linked Data

• gnomAD v4: 19-10357792-G-A
• MyVariant Identifiers: chr19:g.10468468G>A (hg19) ; chr19:g.10357792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10357792G>A , CM000681.2:g.10357792G>A	GRCh38
NC_000019.9:g.10468468G>A , CM000681.1:g.10468468G>A	GRCh37
NC_000019.8:g.10329468G>A	NCBI36
NG_007872.1:g.27781C>T , LRG_121:g.27781C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*787C>T	ENSP00000514307.1:n.*787C>T
ENST00000525976.6:c.2438C>T	ENSP00000434831.2:p.Ala813Val
ENST00000527481.3:c.2438C>T	ENSP00000466340.2:p.Ala813Val
ENST00000529370.6:n.2769C>T
ENST00000529739.2:n.2852C>T
ENST00000530829.2:c.*1989C>T	ENSP00000436826.2:n.*1989C>T
ENST00000531836.6:c.2438C>T	ENSP00000436175.2:p.Ala813Val
ENST00000533334.2:c.*480C>T	ENSP00000432320.2:n.*480C>T
ENST00000534228.2:n.2852C>T
ENST00000699354.1:n.540C>T
ENST00000699355.1:c.*498C>T	ENSP00000514328.1:n.*498C>T
ENST00000699356.1:n.2852C>T
ENST00000699357.1:n.2852C>T
ENST00000699358.1:c.2438C>T	ENSP00000514329.1:p.Ala813Val
ENST00000699360.1:c.2438C>T	ENSP00000514331.1:p.Ala813Val
ENST00000525621.6:c.2438C>T MANE Select	ENSP00000431885.1:p.Ala813Val
ENST00000264818.10:c.2438C>T	ENSP00000264818.6:p.Ala813Val
ENST00000524462.5:c.1883C>T	ENSP00000433203.1:p.Ala628Val
ENST00000525621.5:c.2438C>T	ENSP00000431885.1:p.Ala813Val
ENST00000529370.5:c.2438C>T	ENSP00000432728.1:p.Ala813Val
ENST00000529412.1:n.110C>T
NM_003331.4:c.2438C>T , LRG_121t1:c.2438C>T	NP_003322.3:p.Ala813Val
XM_011528245.1:c.2438C>T	XP_011526547.1:p.Ala813Val
XM_011528246.1:c.2141C>T	XP_011526548.1:p.Ala714Val
XM_011528247.1:c.2141C>T	XP_011526549.1:p.Ala714Val
XM_011528248.1:c.2438C>T	XP_011526550.1:p.Ala813Val
XM_011528249.1:c.1112C>T	XP_011526551.1:p.Ala371Val
XM_011528251.1:c.695C>T	XP_011526553.1:p.Ala232Val
XM_011528246.3:c.2141C>T	XP_011526548.1:p.Ala714Val
XM_011528249.2:c.1112C>T	XP_011526551.1:p.Ala371Val
XR_001753750.1:n.2595C>T
XR_001753751.1:n.2595C>T
XR_002958353.1:n.2476C>T
NM_003331.5:c.2438C>T MANE Select	NP_003322.3:p.Ala813Val
NM_001385197.1:c.2438C>T	NP_001372126.1:p.Ala813Val
NM_001385198.1:c.2438C>T	NP_001372127.1:p.Ala813Val
NM_001385199.1:c.2252C>T	NP_001372128.1:p.Ala751Val
NM_001385200.1:c.2438C>T	NP_001372129.1:p.Ala813Val
NM_001385201.1:c.2240C>T	NP_001372130.1:p.Ala747Val
NM_001385202.1:c.2354C>T	NP_001372131.1:p.Ala785Val
NM_001385203.1:c.2438C>T	NP_001372132.1:p.Ala813Val
NM_001385204.1:c.2438C>T	NP_001372133.1:p.Ala813Val
NM_001385205.1:c.2348C>T	NP_001372134.1:p.Ala783Val
NM_001385206.1:c.2312C>T	NP_001372135.1:p.Ala771Val
NM_001385207.1:c.2420C>T	NP_001372136.1:p.Ala807Val