Canonical Allele Identifier: CA403995266

Gene: TYK2

Linked Data

• gnomAD v4: 19-10357796-C-G
• MyVariant Identifiers: chr19:g.10468472C>G (hg19) ; chr19:g.10357796C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10357796C>G , CM000681.2:g.10357796C>G	GRCh38
NC_000019.9:g.10468472C>G , CM000681.1:g.10468472C>G	GRCh37
NC_000019.8:g.10329472C>G	NCBI36
NG_007872.1:g.27777G>C , LRG_121:g.27777G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*783G>C	ENSP00000514307.1:n.*783G>C
ENST00000525976.6:c.2434G>C	ENSP00000434831.2:p.Glu812Gln
ENST00000527481.3:c.2434G>C	ENSP00000466340.2:p.Glu812Gln
ENST00000529370.6:n.2765G>C
ENST00000529739.2:n.2848G>C
ENST00000530829.2:c.*1985G>C	ENSP00000436826.2:n.*1985G>C
ENST00000531836.6:c.2434G>C	ENSP00000436175.2:p.Glu812Gln
ENST00000533334.2:c.*476G>C	ENSP00000432320.2:n.*476G>C
ENST00000534228.2:n.2848G>C
ENST00000699354.1:n.536G>C
ENST00000699355.1:c.*494G>C	ENSP00000514328.1:n.*494G>C
ENST00000699356.1:n.2848G>C
ENST00000699357.1:n.2848G>C
ENST00000699358.1:c.2434G>C	ENSP00000514329.1:p.Glu812Gln
ENST00000699360.1:c.2434G>C	ENSP00000514331.1:p.Glu812Gln
ENST00000525621.6:c.2434G>C MANE Select	ENSP00000431885.1:p.Glu812Gln
ENST00000264818.10:c.2434G>C	ENSP00000264818.6:p.Glu812Gln
ENST00000524462.5:c.1879G>C	ENSP00000433203.1:p.Glu627Gln
ENST00000525621.5:c.2434G>C	ENSP00000431885.1:p.Glu812Gln
ENST00000529370.5:c.2434G>C	ENSP00000432728.1:p.Glu812Gln
ENST00000529412.1:n.106G>C
ENST00000533334.1:c.723G>C
NM_003331.4:c.2434G>C , LRG_121t1:c.2434G>C	NP_003322.3:p.Glu812Gln
XM_011528245.1:c.2434G>C	XP_011526547.1:p.Glu812Gln
XM_011528246.1:c.2137G>C	XP_011526548.1:p.Glu713Gln
XM_011528247.1:c.2137G>C	XP_011526549.1:p.Glu713Gln
XM_011528248.1:c.2434G>C	XP_011526550.1:p.Glu812Gln
XM_011528249.1:c.1108G>C	XP_011526551.1:p.Glu370Gln
XM_011528251.1:c.691G>C	XP_011526553.1:p.Glu231Gln
XM_011528246.3:c.2137G>C	XP_011526548.1:p.Glu713Gln
XM_011528249.2:c.1108G>C	XP_011526551.1:p.Glu370Gln
XR_001753750.1:n.2591G>C
XR_001753751.1:n.2591G>C
XR_002958353.1:n.2472G>C
NM_003331.5:c.2434G>C MANE Select	NP_003322.3:p.Glu812Gln
NM_001385197.1:c.2434G>C	NP_001372126.1:p.Glu812Gln
NM_001385198.1:c.2434G>C	NP_001372127.1:p.Glu812Gln
NM_001385199.1:c.2248G>C	NP_001372128.1:p.Glu750Gln
NM_001385200.1:c.2434G>C	NP_001372129.1:p.Glu812Gln
NM_001385201.1:c.2236G>C	NP_001372130.1:p.Glu746Gln
NM_001385202.1:c.2350G>C	NP_001372131.1:p.Glu784Gln
NM_001385203.1:c.2434G>C	NP_001372132.1:p.Glu812Gln
NM_001385204.1:c.2434G>C	NP_001372133.1:p.Glu812Gln
NM_001385205.1:c.2344G>C	NP_001372134.1:p.Glu782Gln
NM_001385206.1:c.2308G>C	NP_001372135.1:p.Glu770Gln
NM_001385207.1:c.2416G>C	NP_001372136.1:p.Glu806Gln