Canonical Allele Identifier: CA403996390

Gene: TYK2

Linked Data

• dbSNP Id: rs1599336544
• gnomAD v4: 19-10358015-G-C
• MyVariant Identifiers: chr19:g.10468691G>C (hg19) ; chr19:g.10358015G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10358015G>C , CM000681.2:g.10358015G>C	GRCh38
NC_000019.9:g.10468691G>C , CM000681.1:g.10468691G>C	GRCh37
NC_000019.8:g.10329691G>C	NCBI36
NG_007872.1:g.27558C>G , LRG_121:g.27558C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524470.2:c.*648C>G	ENSP00000514307.1:n.*648C>G
ENST00000525976.6:c.2299C>G	ENSP00000434831.2:p.Leu767Val
ENST00000527481.3:c.2299C>G	ENSP00000466340.2:p.Leu767Val
ENST00000529370.6:n.2630C>G
ENST00000529739.2:n.2713C>G
ENST00000530829.2:c.*1850C>G	ENSP00000436826.2:n.*1850C>G
ENST00000531836.6:c.2299C>G	ENSP00000436175.2:p.Leu767Val
ENST00000533334.2:c.*341C>G	ENSP00000432320.2:n.*341C>G
ENST00000534228.2:n.2713C>G
ENST00000699354.1:n.401C>G
ENST00000699355.1:c.*359C>G	ENSP00000514328.1:n.*359C>G
ENST00000699356.1:n.2713C>G
ENST00000699357.1:n.2713C>G
ENST00000699358.1:c.2299C>G	ENSP00000514329.1:p.Leu767Val
ENST00000699360.1:c.2299C>G	ENSP00000514331.1:p.Leu767Val
ENST00000525621.6:c.2299C>G MANE Select	ENSP00000431885.1:p.Leu767Val
ENST00000264818.10:c.2299C>G	ENSP00000264818.6:p.Leu767Val
ENST00000524462.5:c.1744C>G	ENSP00000433203.1:p.Leu582Val
ENST00000525621.5:c.2299C>G	ENSP00000431885.1:p.Leu767Val
ENST00000529370.5:c.2299C>G	ENSP00000432728.1:p.Leu767Val
ENST00000533334.1:c.588C>G
NM_003331.4:c.2299C>G , LRG_121t1:c.2299C>G	NP_003322.3:p.Leu767Val
XM_011528245.1:c.2299C>G	XP_011526547.1:p.Leu767Val
XM_011528246.1:c.2002C>G	XP_011526548.1:p.Leu668Val
XM_011528247.1:c.2002C>G	XP_011526549.1:p.Leu668Val
XM_011528248.1:c.2299C>G	XP_011526550.1:p.Leu767Val
XM_011528249.1:c.973C>G	XP_011526551.1:p.Leu325Val
XM_011528251.1:c.556C>G	XP_011526553.1:p.Leu186Val
XM_011528246.3:c.2002C>G	XP_011526548.1:p.Leu668Val
XM_011528249.2:c.973C>G	XP_011526551.1:p.Leu325Val
XR_001753750.1:n.2456C>G
XR_001753751.1:n.2456C>G
XR_001753752.1:n.2568C>G
XR_002958353.1:n.2337C>G
NM_003331.5:c.2299C>G MANE Select	NP_003322.3:p.Leu767Val
NM_001385197.1:c.2299C>G	NP_001372126.1:p.Leu767Val
NM_001385198.1:c.2299C>G	NP_001372127.1:p.Leu767Val
NM_001385199.1:c.2113C>G	NP_001372128.1:p.Leu705Val
NM_001385200.1:c.2299C>G	NP_001372129.1:p.Leu767Val
NM_001385201.1:c.2101C>G	NP_001372130.1:p.Leu701Val
NM_001385202.1:c.2215C>G	NP_001372131.1:p.Leu739Val
NM_001385203.1:c.2299C>G	NP_001372132.1:p.Leu767Val
NM_001385204.1:c.2299C>G	NP_001372133.1:p.Leu767Val
NM_001385205.1:c.2209C>G	NP_001372134.1:p.Leu737Val
NM_001385206.1:c.2173C>G	NP_001372135.1:p.Leu725Val
NM_001385207.1:c.2281C>G	NP_001372136.1:p.Leu761Val