Canonical Allele Identifier: CA505373604

Gene: TYK2

Linked Data

• ClinVar Variation Id: 1559099
• ClinVar RCV Id: RCV002202583
• dbSNP Id: rs1188541269
• gnomAD v2: 19-10464782-A-G
• gnomAD v4: 19-10354106-A-G
• MyVariant Identifiers: chr19:g.10464782A>G (hg19) ; chr19:g.10354106A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10354106A>G , CM000681.2:g.10354106A>G	GRCh38
NC_000019.9:g.10464782A>G , CM000681.1:g.10464782A>G	GRCh37
NC_000019.8:g.10325782A>G	NCBI36
NG_007872.1:g.31467T>C , LRG_121:g.31467T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1193T>C	ENSP00000514307.1:n.*1193T>C
ENST00000525976.6:c.2844T>C	ENSP00000434831.2:p.Ile948=
ENST00000527481.3:c.2844T>C	ENSP00000466340.2:p.Ile948=
ENST00000529370.6:n.4220T>C
ENST00000529739.2:n.3258T>C
ENST00000530829.2:c.*2395T>C	ENSP00000436826.2:n.*2395T>C
ENST00000531836.6:c.2844T>C	ENSP00000436175.2:p.Ile948=
ENST00000533334.2:c.*886T>C	ENSP00000432320.2:n.*886T>C
ENST00000534228.2:n.4303T>C
ENST00000699354.1:n.946T>C
ENST00000699355.1:c.*1949T>C	ENSP00000514328.1:n.*1949T>C
ENST00000699356.1:n.3258T>C
ENST00000699357.1:n.4303T>C
ENST00000699358.1:c.2844T>C	ENSP00000514329.1:p.Ile948=
ENST00000699359.1:c.50T>C
ENST00000699360.1:c.2844T>C	ENSP00000514331.1:p.Ile948=
ENST00000699368.1:c.48T>C	ENSP00000514335.1:p.Ile16=
ENST00000525621.6:c.2844T>C MANE Select	ENSP00000431885.1:p.Ile948=
ENST00000264818.10:c.2844T>C	ENSP00000264818.6:p.Ile948=
ENST00000524462.5:c.2289T>C	ENSP00000433203.1:p.Ile763=
ENST00000525621.5:c.2844T>C	ENSP00000431885.1:p.Ile948=
ENST00000527481.2:c.140T>C
ENST00000529412.1:n.516T>C
ENST00000530560.5:c.273T>C	ENSP00000465291.1:p.Ile91=
NM_003331.4:c.2844T>C , LRG_121t1:c.2844T>C	NP_003322.3:p.Ile948=
XM_011528245.1:c.2844T>C	XP_011526547.1:p.Ile948=
XM_011528246.1:c.2547T>C	XP_011526548.1:p.Ile849=
XM_011528247.1:c.2547T>C	XP_011526549.1:p.Ile849=
XM_011528248.1:c.2844T>C	XP_011526550.1:p.Ile948=
XM_011528249.1:c.1518T>C	XP_011526551.1:p.Ile506=
XM_011528251.1:c.1101T>C	XP_011526553.1:p.Ile367=
XM_011528246.3:c.2547T>C	XP_011526548.1:p.Ile849=
XM_011528249.2:c.1518T>C	XP_011526551.1:p.Ile506=
XR_001753750.1:n.3001T>C
XR_001753751.1:n.3001T>C
XR_002958353.1:n.3927T>C
NM_003331.5:c.2844T>C MANE Select	NP_003322.3:p.Ile948=
NM_001385197.1:c.2844T>C	NP_001372126.1:p.Ile948=
NM_001385198.1:c.2844T>C	NP_001372127.1:p.Ile948=
NM_001385199.1:c.2658T>C	NP_001372128.1:p.Ile886=
NM_001385200.1:c.2841T>C	NP_001372129.1:p.Ile947=
NM_001385201.1:c.2646T>C	NP_001372130.1:p.Ile882=
NM_001385202.1:c.2760T>C	NP_001372131.1:p.Ile920=
NM_001385203.1:c.2925T>C	NP_001372132.1:p.Ile975=
NM_001385204.1:c.3054T>C	NP_001372133.1:p.Ile1018=
NM_001385205.1:c.2754T>C	NP_001372134.1:p.Ile918=
NM_001385206.1:c.2718T>C	NP_001372135.1:p.Ile906=
NM_001385207.1:c.2826T>C	NP_001372136.1:p.Ile942=