Canonical Allele Identifier: CA993442196

Gene: TYK2

Linked Data

• dbSNP Id: rs2041006009
• gnomAD v3: 19-10354825-A-G
• gnomAD v4: 19-10354825-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10354825A>G , CM000681.2:g.10354825A>G	GRCh38
NC_000019.9:g.10465501A>G , CM000681.1:g.10465501A>G	GRCh37
NC_000019.8:g.10326501A>G	NCBI36
NG_007872.1:g.30748T>C , LRG_121:g.30748T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*967-216T>C	ENSP00000514307.1:n.*967-216T>C
ENST00000525976.6:c.2618-216T>C	ENSP00000434831.2:n.2618-216T>C
ENST00000527481.3:c.2618-216T>C	ENSP00000466340.2:n.2618-216T>C
ENST00000529370.6:n.3994-216T>C
ENST00000529739.2:n.3032-216T>C
ENST00000530829.2:c.*2169-216T>C	ENSP00000436826.2:n.*2169-216T>C
ENST00000531836.6:c.2618-216T>C	ENSP00000436175.2:n.2618-216T>C
ENST00000533334.2:c.*660-216T>C	ENSP00000432320.2:n.*660-216T>C
ENST00000534228.2:n.4077-216T>C
ENST00000699354.1:n.720-216T>C
ENST00000699355.1:c.*1723-216T>C	ENSP00000514328.1:n.*1723-216T>C
ENST00000699356.1:n.3032-216T>C
ENST00000699357.1:n.4077-216T>C
ENST00000699358.1:c.2618-216T>C	ENSP00000514329.1:n.2618-216T>C
ENST00000699360.1:c.2618-216T>C	ENSP00000514331.1:n.2618-216T>C
ENST00000525621.6:c.2618-216T>C MANE Select	ENSP00000431885.1:n.2618-216T>C
ENST00000264818.10:c.2618-216T>C	ENSP00000264818.6:n.2618-216T>C
ENST00000524462.5:c.2063-216T>C	ENSP00000433203.1:n.2063-216T>C
ENST00000525621.5:c.2618-216T>C	ENSP00000431885.1:n.2618-216T>C
ENST00000529412.1:n.290-216T>C
ENST00000530560.5:c.47-216T>C	ENSP00000465291.1:n.47-216T>C
ENST00000534228.1:n.518-216T>C
NM_003331.4:c.2618-216T>C , LRG_121t1:c.2618-216T>C	NP_003322.3:n.2618-216T>C
XM_011528245.1:c.2618-216T>C	XP_011526547.1:n.2618-216T>C
XM_011528246.1:c.2321-216T>C	XP_011526548.1:n.2321-216T>C
XM_011528247.1:c.2321-216T>C	XP_011526549.1:n.2321-216T>C
XM_011528248.1:c.2618-216T>C	XP_011526550.1:n.2618-216T>C
XM_011528249.1:c.1292-216T>C	XP_011526551.1:n.1292-216T>C
XM_011528251.1:c.875-216T>C	XP_011526553.1:n.875-216T>C
XM_011528246.3:c.2321-216T>C	XP_011526548.1:n.2321-216T>C
XM_011528249.2:c.1292-216T>C	XP_011526551.1:n.1292-216T>C
XR_001753750.1:n.2775-216T>C
XR_001753751.1:n.2775-216T>C
XR_002958353.1:n.3701-216T>C
NM_003331.5:c.2618-216T>C MANE Select	NP_003322.3:n.2618-216T>C
NM_001385197.1:c.2618-216T>C	NP_001372126.1:n.2618-216T>C
NM_001385198.1:c.2618-216T>C	NP_001372127.1:n.2618-216T>C
NM_001385199.1:c.2432-216T>C	NP_001372128.1:n.2432-216T>C
NM_001385200.1:c.2615-216T>C	NP_001372129.1:n.2615-216T>C
NM_001385201.1:c.2420-216T>C	NP_001372130.1:n.2420-216T>C
NM_001385202.1:c.2534-216T>C	NP_001372131.1:n.2534-216T>C
NM_001385203.1:c.2675T>C	NP_001372132.1:p.Leu892Pro
NM_001385204.1:c.2828-216T>C	NP_001372133.1:n.2828-216T>C
NM_001385205.1:c.2528-216T>C	NP_001372134.1:n.2528-216T>C
NM_001385206.1:c.2492-216T>C	NP_001372135.1:n.2492-216T>C
NM_001385207.1:c.2600-216T>C	NP_001372136.1:n.2600-216T>C