Canonical Allele Identifier: CA403983161

Gene: TYK2

Linked Data

• gnomAD v4: 19-10352472-G-C
• MyVariant Identifiers: chr19:g.10463148G>C (hg19) ; chr19:g.10352472G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352472G>C , CM000681.2:g.10352472G>C	GRCh38
NC_000019.9:g.10463148G>C , CM000681.1:g.10463148G>C	GRCh37
NC_000019.8:g.10324148G>C	NCBI36
NG_007872.1:g.33101C>G , LRG_121:g.33101C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1629C>G	ENSP00000514307.1:n.*1629C>G
ENST00000525976.6:c.3280C>G	ENSP00000434831.2:p.Leu1094Val
ENST00000527481.3:c.*50C>G	ENSP00000466340.2:n.*50C>G
ENST00000529370.6:n.4656C>G
ENST00000529739.2:n.4089C>G
ENST00000530829.2:c.*2831C>G	ENSP00000436826.2:n.*2831C>G
ENST00000531836.6:c.3280C>G	ENSP00000436175.2:p.Leu1094Val
ENST00000533334.2:c.*1242+454C>G	ENSP00000432320.2:n.*1242+454C>G
ENST00000534228.2:n.5054+454C>G
ENST00000699354.1:n.1382C>G
ENST00000699355.1:c.*2780C>G	ENSP00000514328.1:n.*2780C>G
ENST00000699356.1:n.4089C>G
ENST00000699357.1:n.5134C>G
ENST00000699358.1:c.3200+454C>G	ENSP00000514329.1:n.3200+454C>G
ENST00000699359.1:c.454C>G
ENST00000699360.1:c.3238C>G	ENSP00000514331.1:p.Leu1080Val
ENST00000699361.1:n.314C>G
ENST00000699362.1:c.176C>G	ENSP00000514332.1:n.176C>G
ENST00000699363.1:c.176C>G	ENSP00000514333.1:n.176C>G
ENST00000699364.1:n.280C>G
ENST00000699365.1:c.349C>G	ENSP00000514334.1:p.Leu117Val
ENST00000699366.1:n.111+1342C>G
ENST00000699367.1:n.112-1310C>G
ENST00000699368.1:c.767C>G	ENSP00000514335.1:n.767C>G
ENST00000525621.6:c.3280C>G MANE Select	ENSP00000431885.1:p.Leu1094Val
ENST00000264818.10:c.3280C>G	ENSP00000264818.6:p.Leu1094Val
ENST00000524462.5:c.2725C>G	ENSP00000433203.1:p.Leu909Val
ENST00000525621.5:c.3280C>G	ENSP00000431885.1:p.Leu1094Val
ENST00000525976.5:c.21C>G
ENST00000527481.2:c.457C>G
ENST00000529422.1:n.116+550C>G
ENST00000529739.1:c.349C>G	ENSP00000436155.1:p.Leu117Val
ENST00000530220.1:n.331+454C>G
ENST00000530560.5:c.338-1504C>G	ENSP00000465291.1:n.338-1504C>G
ENST00000592137.1:n.434C>G
NM_003331.4:c.3280C>G , LRG_121t1:c.3280C>G	NP_003322.3:p.Leu1094Val
XM_011528245.1:c.3280C>G	XP_011526547.1:p.Leu1094Val
XM_011528246.1:c.2983C>G	XP_011526548.1:p.Leu995Val
XM_011528247.1:c.2983C>G	XP_011526549.1:p.Leu995Val
XM_011528248.1:c.3200+454C>G	XP_011526550.1:n.3200+454C>G
XM_011528249.1:c.1954C>G	XP_011526551.1:p.Leu652Val
XM_011528251.1:c.1537C>G	XP_011526553.1:p.Leu513Val
XM_011528246.3:c.2983C>G	XP_011526548.1:p.Leu995Val
XM_011528249.2:c.1954C>G	XP_011526551.1:p.Leu652Val
XR_001753750.1:n.3357+454C>G
XR_001753751.1:n.3832C>G
XR_002958353.1:n.4758C>G
NM_003331.5:c.3280C>G MANE Select	NP_003322.3:p.Leu1094Val
NM_001385197.1:c.3280C>G	NP_001372126.1:p.Leu1094Val
NM_001385198.1:c.3168+486C>G	NP_001372127.1:n.3168+486C>G
NM_001385199.1:c.3094C>G	NP_001372128.1:p.Leu1032Val
NM_001385200.1:c.3277C>G	NP_001372129.1:p.Leu1093Val
NM_001385201.1:c.3082C>G	NP_001372130.1:p.Leu1028Val
NM_001385202.1:c.3196C>G	NP_001372131.1:p.Leu1066Val
NM_001385203.1:c.3361C>G	NP_001372132.1:p.Leu1121Val
NM_001385204.1:c.3490C>G	NP_001372133.1:p.Leu1164Val
NM_001385205.1:c.3190C>G	NP_001372134.1:p.Leu1064Val
NM_001385206.1:c.3154C>G	NP_001372135.1:p.Leu1052Val
NM_001385207.1:c.3262C>G	NP_001372136.1:p.Leu1088Val