Canonical Allele Identifier: CA9193594

Gene: TYK2

Linked Data

• ClinVar Variation Id: 1943401
• ClinVar RCV Id: RCV002650428
• dbSNP Id: rs373767400
• ExAC: 19:10476333 A / G
• gnomAD v2: 19-10476333-A-G
• gnomAD v3: 19-10365657-A-G
• gnomAD v4: 19-10365657-A-G
• MyVariant Identifiers: chr19:g.10476333A>G (hg19) ; chr19:g.10365657A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10365657A>G , CM000681.2:g.10365657A>G	GRCh38
NC_000019.9:g.10476333A>G , CM000681.1:g.10476333A>G	GRCh37
NC_000019.8:g.10337333A>G	NCBI36
NG_007872.1:g.19916T>C , LRG_121:g.19916T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524470.2:c.871T>C	ENSP00000514307.1:p.Cys291Arg
ENST00000525976.6:c.871T>C	ENSP00000434831.2:p.Cys291Arg
ENST00000527481.3:c.871T>C	ENSP00000466340.2:p.Cys291Arg
ENST00000529370.6:n.1202T>C
ENST00000529739.2:n.1285T>C
ENST00000530829.2:c.*422T>C	ENSP00000436826.2:n.*422T>C
ENST00000531836.6:c.871T>C	ENSP00000436175.2:p.Cys291Arg
ENST00000533334.2:c.871T>C	ENSP00000432320.2:p.Cys291Arg
ENST00000534228.2:n.1285T>C
ENST00000699355.1:c.871T>C	ENSP00000514328.1:p.Cys291Arg
ENST00000699356.1:n.1285T>C
ENST00000699357.1:n.1285T>C
ENST00000699358.1:c.871T>C	ENSP00000514329.1:p.Cys291Arg
ENST00000699360.1:c.871T>C	ENSP00000514331.1:p.Cys291Arg
ENST00000699369.1:n.1214T>C
ENST00000699370.1:n.1236T>C
ENST00000525621.6:c.871T>C MANE Select	ENSP00000431885.1:p.Cys291Arg
ENST00000264818.10:c.871T>C	ENSP00000264818.6:p.Cys291Arg
ENST00000524462.5:c.316T>C	ENSP00000433203.1:p.Cys106Arg
ENST00000525220.1:c.207T>C
ENST00000525621.5:c.871T>C	ENSP00000431885.1:p.Cys291Arg
ENST00000529370.5:c.871T>C	ENSP00000432728.1:p.Cys291Arg
NM_003331.4:c.871T>C , LRG_121t1:c.871T>C	NP_003322.3:p.Cys291Arg
XM_011528245.1:c.871T>C	XP_011526547.1:p.Cys291Arg
XM_011528246.1:c.574T>C	XP_011526548.1:p.Cys192Arg
XM_011528247.1:c.574T>C	XP_011526549.1:p.Cys192Arg
XM_011528248.1:c.871T>C	XP_011526550.1:p.Cys291Arg
XM_011528250.1:c.871T>C	XP_011526552.1:p.Cys291Arg
XM_011528252.1:c.871T>C	XP_011526554.1:p.Cys291Arg
XM_011528246.3:c.574T>C	XP_011526548.1:p.Cys192Arg
XR_001753750.1:n.1028T>C
XR_001753751.1:n.1028T>C
XR_001753752.1:n.1028T>C
XR_002958353.1:n.1028T>C
NM_003331.5:c.871T>C MANE Select	NP_003322.3:p.Cys291Arg
NM_001385197.1:c.871T>C	NP_001372126.1:p.Cys291Arg
NM_001385198.1:c.871T>C	NP_001372127.1:p.Cys291Arg
NM_001385199.1:c.871T>C	NP_001372128.1:p.Cys291Arg
NM_001385200.1:c.871T>C	NP_001372129.1:p.Cys291Arg
NM_001385201.1:c.871T>C	NP_001372130.1:p.Cys291Arg
NM_001385202.1:c.871T>C	NP_001372131.1:p.Cys291Arg
NM_001385203.1:c.871T>C	NP_001372132.1:p.Cys291Arg
NM_001385204.1:c.871T>C	NP_001372133.1:p.Cys291Arg
NM_001385205.1:c.781T>C	NP_001372134.1:p.Cys261Arg
NM_001385206.1:c.871T>C	NP_001372135.1:p.Cys291Arg
NM_001385207.1:c.871T>C	NP_001372136.1:p.Cys291Arg