Canonical Allele Identifier: CA403996088
Gene: TYK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10357913C>G , CM000681.2:g.10357913C>G GRCh38
NC_000019.9:g.10468589C>G , CM000681.1:g.10468589C>G GRCh37
NC_000019.8:g.10329589C>G NCBI36
NG_007872.1:g.27660G>C , LRG_121:g.27660G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000524470.2:c.*666G>C ENSP00000514307.1:n.*666G>C
ENST00000525976.6:c.2317G>C ENSP00000434831.2:p.Val773Leu
ENST00000527481.3:c.2317G>C ENSP00000466340.2:p.Val773Leu
ENST00000529370.6:n.2648G>C
ENST00000529739.2:n.2731G>C
ENST00000530829.2:c.*1868G>C ENSP00000436826.2:n.*1868G>C
ENST00000531836.6:c.2317G>C ENSP00000436175.2:p.Val773Leu
ENST00000533334.2:c.*359G>C ENSP00000432320.2:n.*359G>C
ENST00000534228.2:n.2731G>C
ENST00000699354.1:n.419G>C
ENST00000699355.1:c.*377G>C ENSP00000514328.1:n.*377G>C
ENST00000699356.1:n.2731G>C
ENST00000699357.1:n.2731G>C
ENST00000699358.1:c.2317G>C ENSP00000514329.1:p.Val773Leu
ENST00000699360.1:c.2317G>C ENSP00000514331.1:p.Val773Leu
ENST00000525621.6:c.2317G>C MANE Select ENSP00000431885.1:p.Val773Leu
ENST00000264818.10:c.2317G>C ENSP00000264818.6:p.Val773Leu
ENST00000524462.5:c.1762G>C ENSP00000433203.1:p.Val588Leu
ENST00000525621.5:c.2317G>C ENSP00000431885.1:p.Val773Leu
ENST00000529370.5:c.2317G>C ENSP00000432728.1:p.Val773Leu
ENST00000533334.1:c.606G>C
NM_003331.4:c.2317G>C , LRG_121t1:c.2317G>C NP_003322.3:p.Val773Leu
XM_011528245.1:c.2317G>C XP_011526547.1:p.Val773Leu
XM_011528246.1:c.2020G>C XP_011526548.1:p.Val674Leu
XM_011528247.1:c.2020G>C XP_011526549.1:p.Val674Leu
XM_011528248.1:c.2317G>C XP_011526550.1:p.Val773Leu
XM_011528249.1:c.991G>C XP_011526551.1:p.Val331Leu
XM_011528251.1:c.574G>C XP_011526553.1:p.Val192Leu
XM_011528246.3:c.2020G>C XP_011526548.1:p.Val674Leu
XM_011528249.2:c.991G>C XP_011526551.1:p.Val331Leu
XR_001753750.1:n.2474G>C
XR_001753751.1:n.2474G>C
XR_001753752.1:n.2586G>C
XR_002958353.1:n.2355G>C
NM_003331.5:c.2317G>C MANE Select NP_003322.3:p.Val773Leu
NM_001385197.1:c.2317G>C NP_001372126.1:p.Val773Leu
NM_001385198.1:c.2317G>C NP_001372127.1:p.Val773Leu
NM_001385199.1:c.2131G>C NP_001372128.1:p.Val711Leu
NM_001385200.1:c.2317G>C NP_001372129.1:p.Val773Leu
NM_001385201.1:c.2119G>C NP_001372130.1:p.Val707Leu
NM_001385202.1:c.2233G>C NP_001372131.1:p.Val745Leu
NM_001385203.1:c.2317G>C NP_001372132.1:p.Val773Leu
NM_001385204.1:c.2317G>C NP_001372133.1:p.Val773Leu
NM_001385205.1:c.2227G>C NP_001372134.1:p.Val743Leu
NM_001385206.1:c.2191G>C NP_001372135.1:p.Val731Leu
NM_001385207.1:c.2299G>C NP_001372136.1:p.Val767Leu