Canonical Allele Identifier: CA403988571

Gene: TYK2

Linked Data

• dbSNP Id: rs1223123955
• gnomAD v3: 19-10354156-G-C
• gnomAD v4: 19-10354156-G-C
• MyVariant Identifiers: chr19:g.10464832G>C (hg19) ; chr19:g.10354156G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10354156G>C , CM000681.2:g.10354156G>C	GRCh38
NC_000019.9:g.10464832G>C , CM000681.1:g.10464832G>C	GRCh37
NC_000019.8:g.10325832G>C	NCBI36
NG_007872.1:g.31417C>G , LRG_121:g.31417C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1143C>G	ENSP00000514307.1:n.*1143C>G
ENST00000525976.6:c.2794C>G	ENSP00000434831.2:p.Leu932Val
ENST00000527481.3:c.2794C>G	ENSP00000466340.2:p.Leu932Val
ENST00000529370.6:n.4170C>G
ENST00000529739.2:n.3208C>G
ENST00000530829.2:c.*2345C>G	ENSP00000436826.2:n.*2345C>G
ENST00000531836.6:c.2794C>G	ENSP00000436175.2:p.Leu932Val
ENST00000533334.2:c.*836C>G	ENSP00000432320.2:n.*836C>G
ENST00000534228.2:n.4253C>G
ENST00000699354.1:n.896C>G
ENST00000699355.1:c.*1899C>G	ENSP00000514328.1:n.*1899C>G
ENST00000699356.1:n.3208C>G
ENST00000699357.1:n.4253C>G
ENST00000699358.1:c.2794C>G	ENSP00000514329.1:p.Leu932Val
ENST00000699360.1:c.2794C>G	ENSP00000514331.1:p.Leu932Val
ENST00000525621.6:c.2794C>G MANE Select	ENSP00000431885.1:p.Leu932Val
ENST00000264818.10:c.2794C>G	ENSP00000264818.6:p.Leu932Val
ENST00000524462.5:c.2239C>G	ENSP00000433203.1:p.Leu747Val
ENST00000525621.5:c.2794C>G	ENSP00000431885.1:p.Leu932Val
ENST00000527481.2:c.90C>G
ENST00000529412.1:n.466C>G
ENST00000530560.5:c.223C>G	ENSP00000465291.1:p.Leu75Val
NM_003331.4:c.2794C>G , LRG_121t1:c.2794C>G	NP_003322.3:p.Leu932Val
XM_011528245.1:c.2794C>G	XP_011526547.1:p.Leu932Val
XM_011528246.1:c.2497C>G	XP_011526548.1:p.Leu833Val
XM_011528247.1:c.2497C>G	XP_011526549.1:p.Leu833Val
XM_011528248.1:c.2794C>G	XP_011526550.1:p.Leu932Val
XM_011528249.1:c.1468C>G	XP_011526551.1:p.Leu490Val
XM_011528251.1:c.1051C>G	XP_011526553.1:p.Leu351Val
XM_011528246.3:c.2497C>G	XP_011526548.1:p.Leu833Val
XM_011528249.2:c.1468C>G	XP_011526551.1:p.Leu490Val
XR_001753750.1:n.2951C>G
XR_001753751.1:n.2951C>G
XR_002958353.1:n.3877C>G
NM_003331.5:c.2794C>G MANE Select	NP_003322.3:p.Leu932Val
NM_001385197.1:c.2794C>G	NP_001372126.1:p.Leu932Val
NM_001385198.1:c.2794C>G	NP_001372127.1:p.Leu932Val
NM_001385199.1:c.2608C>G	NP_001372128.1:p.Leu870Val
NM_001385200.1:c.2791C>G	NP_001372129.1:p.Leu931Val
NM_001385201.1:c.2596C>G	NP_001372130.1:p.Leu866Val
NM_001385202.1:c.2710C>G	NP_001372131.1:p.Leu904Val
NM_001385203.1:c.2875C>G	NP_001372132.1:p.Leu959Val
NM_001385204.1:c.3004C>G	NP_001372133.1:p.Leu1002Val
NM_001385205.1:c.2704C>G	NP_001372134.1:p.Leu902Val
NM_001385206.1:c.2668C>G	NP_001372135.1:p.Leu890Val
NM_001385207.1:c.2776C>G	NP_001372136.1:p.Leu926Val