Canonical Allele Identifier: CA9192909

Gene: TYK2

Linked Data

• dbSNP Id: rs748253254
• ExAC: 19:10464767 C / G
• gnomAD v2: 19-10464767-C-G
• gnomAD v4: 19-10354091-C-G
• MyVariant Identifiers: chr19:g.10464767C>G (hg19) ; chr19:g.10354091C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10354091C>G , CM000681.2:g.10354091C>G	GRCh38
NC_000019.9:g.10464767C>G , CM000681.1:g.10464767C>G	GRCh37
NC_000019.8:g.10325767C>G	NCBI36
NG_007872.1:g.31482G>C , LRG_121:g.31482G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1208G>C	ENSP00000514307.1:n.*1208G>C
ENST00000525976.6:c.2859G>C	ENSP00000434831.2:p.Thr953=
ENST00000527481.3:c.2859G>C	ENSP00000466340.2:p.Thr953=
ENST00000529370.6:n.4235G>C
ENST00000529739.2:n.3273G>C
ENST00000530829.2:c.*2410G>C	ENSP00000436826.2:n.*2410G>C
ENST00000531836.6:c.2859G>C	ENSP00000436175.2:p.Thr953=
ENST00000533334.2:c.*901G>C	ENSP00000432320.2:n.*901G>C
ENST00000534228.2:n.4318G>C
ENST00000699354.1:n.961G>C
ENST00000699355.1:c.*1964G>C	ENSP00000514328.1:n.*1964G>C
ENST00000699356.1:n.3273G>C
ENST00000699357.1:n.4318G>C
ENST00000699358.1:c.2859G>C	ENSP00000514329.1:p.Thr953=
ENST00000699359.1:c.65G>C
ENST00000699360.1:c.2859G>C	ENSP00000514331.1:p.Thr953=
ENST00000699368.1:c.63G>C	ENSP00000514335.1:p.Thr21=
ENST00000525621.6:c.2859G>C MANE Select	ENSP00000431885.1:p.Thr953=
ENST00000264818.10:c.2859G>C	ENSP00000264818.6:p.Thr953=
ENST00000524462.5:c.2304G>C	ENSP00000433203.1:p.Thr768=
ENST00000525621.5:c.2859G>C	ENSP00000431885.1:p.Thr953=
ENST00000527481.2:c.155G>C
ENST00000529412.1:n.531G>C
ENST00000530560.5:c.288G>C	ENSP00000465291.1:p.Thr96=
ENST00000592137.1:n.13G>C
NM_003331.4:c.2859G>C , LRG_121t1:c.2859G>C	NP_003322.3:p.Thr953=
XM_011528245.1:c.2859G>C	XP_011526547.1:p.Thr953=
XM_011528246.1:c.2562G>C	XP_011526548.1:p.Thr854=
XM_011528247.1:c.2562G>C	XP_011526549.1:p.Thr854=
XM_011528248.1:c.2859G>C	XP_011526550.1:p.Thr953=
XM_011528249.1:c.1533G>C	XP_011526551.1:p.Thr511=
XM_011528251.1:c.1116G>C	XP_011526553.1:p.Thr372=
XM_011528246.3:c.2562G>C	XP_011526548.1:p.Thr854=
XM_011528249.2:c.1533G>C	XP_011526551.1:p.Thr511=
XR_001753750.1:n.3016G>C
XR_001753751.1:n.3016G>C
XR_002958353.1:n.3942G>C
NM_003331.5:c.2859G>C MANE Select	NP_003322.3:p.Thr953=
NM_001385197.1:c.2859G>C	NP_001372126.1:p.Thr953=
NM_001385198.1:c.2859G>C	NP_001372127.1:p.Thr953=
NM_001385199.1:c.2673G>C	NP_001372128.1:p.Thr891=
NM_001385200.1:c.2856G>C	NP_001372129.1:p.Thr952=
NM_001385201.1:c.2661G>C	NP_001372130.1:p.Thr887=
NM_001385202.1:c.2775G>C	NP_001372131.1:p.Thr925=
NM_001385203.1:c.2940G>C	NP_001372132.1:p.Thr980=
NM_001385204.1:c.3069G>C	NP_001372133.1:p.Thr1023=
NM_001385205.1:c.2769G>C	NP_001372134.1:p.Thr923=
NM_001385206.1:c.2733G>C	NP_001372135.1:p.Thr911=
NM_001385207.1:c.2841G>C	NP_001372136.1:p.Thr947=