Canonical Allele Identifier: CA404017275

Gene: TYK2

Linked Data

• gnomAD v4: 19-10365812-C-A
• COSMIC: COSM5990499
• MyVariant Identifiers: chr19:g.10476488C>A (hg19) ; chr19:g.10365812C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10365812C>A , CM000681.2:g.10365812C>A	GRCh38
NC_000019.9:g.10476488C>A , CM000681.1:g.10476488C>A	GRCh37
NC_000019.8:g.10337488C>A	NCBI36
NG_007872.1:g.19761G>T , LRG_121:g.19761G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.716G>T	ENSP00000514307.1:p.Arg239Leu
ENST00000525976.6:c.716G>T	ENSP00000434831.2:p.Arg239Leu
ENST00000527481.3:c.716G>T	ENSP00000466340.2:p.Arg239Leu
ENST00000529370.6:n.1047G>T
ENST00000529739.2:n.1130G>T
ENST00000530829.2:c.*267G>T	ENSP00000436826.2:n.*267G>T
ENST00000531836.6:c.716G>T	ENSP00000436175.2:p.Arg239Leu
ENST00000533334.2:c.716G>T	ENSP00000432320.2:p.Arg239Leu
ENST00000534228.2:n.1130G>T
ENST00000699355.1:c.716G>T	ENSP00000514328.1:p.Arg239Leu
ENST00000699356.1:n.1130G>T
ENST00000699357.1:n.1130G>T
ENST00000699358.1:c.716G>T	ENSP00000514329.1:p.Arg239Leu
ENST00000699360.1:c.716G>T	ENSP00000514331.1:p.Arg239Leu
ENST00000699369.1:n.1059G>T
ENST00000699370.1:n.1081G>T
ENST00000525621.6:c.716G>T MANE Select	ENSP00000431885.1:p.Arg239Leu
ENST00000264818.10:c.716G>T	ENSP00000264818.6:p.Arg239Leu
ENST00000524462.5:c.161G>T	ENSP00000433203.1:p.Arg54Leu
ENST00000525220.1:c.52G>T
ENST00000525621.5:c.716G>T	ENSP00000431885.1:p.Arg239Leu
ENST00000529370.5:c.716G>T	ENSP00000432728.1:p.Arg239Leu
NM_003331.4:c.716G>T , LRG_121t1:c.716G>T	NP_003322.3:p.Arg239Leu
XM_011528245.1:c.716G>T	XP_011526547.1:p.Arg239Leu
XM_011528246.1:c.419G>T	XP_011526548.1:p.Arg140Leu
XM_011528247.1:c.419G>T	XP_011526549.1:p.Arg140Leu
XM_011528248.1:c.716G>T	XP_011526550.1:p.Arg239Leu
XM_011528250.1:c.716G>T	XP_011526552.1:p.Arg239Leu
XM_011528252.1:c.716G>T	XP_011526554.1:p.Arg239Leu
XM_011528246.3:c.419G>T	XP_011526548.1:p.Arg140Leu
XR_001753750.1:n.873G>T
XR_001753751.1:n.873G>T
XR_001753752.1:n.873G>T
XR_002958353.1:n.873G>T
NM_003331.5:c.716G>T MANE Select	NP_003322.3:p.Arg239Leu
NM_001385197.1:c.716G>T	NP_001372126.1:p.Arg239Leu
NM_001385198.1:c.716G>T	NP_001372127.1:p.Arg239Leu
NM_001385199.1:c.716G>T	NP_001372128.1:p.Arg239Leu
NM_001385200.1:c.716G>T	NP_001372129.1:p.Arg239Leu
NM_001385201.1:c.716G>T	NP_001372130.1:p.Arg239Leu
NM_001385202.1:c.716G>T	NP_001372131.1:p.Arg239Leu
NM_001385203.1:c.716G>T	NP_001372132.1:p.Arg239Leu
NM_001385204.1:c.716G>T	NP_001372133.1:p.Arg239Leu
NM_001385205.1:c.630-4G>T	NP_001372134.1:n.630-4G>T
NM_001385206.1:c.716G>T	NP_001372135.1:p.Arg239Leu
NM_001385207.1:c.716G>T	NP_001372136.1:p.Arg239Leu