Canonical Allele Identifier: CA403996516
Gene: TYK2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10358030C>G , CM000681.2:g.10358030C>G GRCh38
NC_000019.9:g.10468706C>G , CM000681.1:g.10468706C>G GRCh37
NC_000019.8:g.10329706C>G NCBI36
NG_007872.1:g.27543G>C , LRG_121:g.27543G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524470.2:c.*633G>C ENSP00000514307.1:n.*633G>C
ENST00000525976.6:c.2284G>C ENSP00000434831.2:p.Val762Leu
ENST00000527481.3:c.2284G>C ENSP00000466340.2:p.Val762Leu
ENST00000529370.6:n.2615G>C
ENST00000529739.2:n.2698G>C
ENST00000530829.2:c.*1835G>C ENSP00000436826.2:n.*1835G>C
ENST00000531836.6:c.2284G>C ENSP00000436175.2:p.Val762Leu
ENST00000533334.2:c.*326G>C ENSP00000432320.2:n.*326G>C
ENST00000534228.2:n.2698G>C
ENST00000699354.1:n.386G>C
ENST00000699355.1:c.*344G>C ENSP00000514328.1:n.*344G>C
ENST00000699356.1:n.2698G>C
ENST00000699357.1:n.2698G>C
ENST00000699358.1:c.2284G>C ENSP00000514329.1:p.Val762Leu
ENST00000699360.1:c.2284G>C ENSP00000514331.1:p.Val762Leu
ENST00000525621.6:c.2284G>C MANE Select ENSP00000431885.1:p.Val762Leu
ENST00000264818.10:c.2284G>C ENSP00000264818.6:p.Val762Leu
ENST00000524462.5:c.1729G>C ENSP00000433203.1:p.Val577Leu
ENST00000525621.5:c.2284G>C ENSP00000431885.1:p.Val762Leu
ENST00000529370.5:c.2284G>C ENSP00000432728.1:p.Val762Leu
ENST00000533334.1:c.573G>C
NM_003331.4:c.2284G>C , LRG_121t1:c.2284G>C NP_003322.3:p.Val762Leu
XM_011528245.1:c.2284G>C XP_011526547.1:p.Val762Leu
XM_011528246.1:c.1987G>C XP_011526548.1:p.Val663Leu
XM_011528247.1:c.1987G>C XP_011526549.1:p.Val663Leu
XM_011528248.1:c.2284G>C XP_011526550.1:p.Val762Leu
XM_011528249.1:c.958G>C XP_011526551.1:p.Val320Leu
XM_011528251.1:c.541G>C XP_011526553.1:p.Val181Leu
XM_011528246.3:c.1987G>C XP_011526548.1:p.Val663Leu
XM_011528249.2:c.958G>C XP_011526551.1:p.Val320Leu
XR_001753750.1:n.2441G>C
XR_001753751.1:n.2441G>C
XR_001753752.1:n.2553G>C
XR_002958353.1:n.2322G>C
NM_003331.5:c.2284G>C MANE Select NP_003322.3:p.Val762Leu
NM_001385197.1:c.2284G>C NP_001372126.1:p.Val762Leu
NM_001385198.1:c.2284G>C NP_001372127.1:p.Val762Leu
NM_001385199.1:c.2098G>C NP_001372128.1:p.Val700Leu
NM_001385200.1:c.2284G>C NP_001372129.1:p.Val762Leu
NM_001385201.1:c.2086G>C NP_001372130.1:p.Val696Leu
NM_001385202.1:c.2200G>C NP_001372131.1:p.Val734Leu
NM_001385203.1:c.2284G>C NP_001372132.1:p.Val762Leu
NM_001385204.1:c.2284G>C NP_001372133.1:p.Val762Leu
NM_001385205.1:c.2194G>C NP_001372134.1:p.Val732Leu
NM_001385206.1:c.2158G>C NP_001372135.1:p.Val720Leu
NM_001385207.1:c.2266G>C NP_001372136.1:p.Val756Leu