Canonical Allele Identifier: CA9193793

Gene: TYK2

Linked Data

• ClinVar Variation Id: 1141276
• ClinVar RCV Id: RCV001478679
• dbSNP Id: rs141110105
• ExAC: 19:10478985 T / C
• gnomAD v2: 19-10478985-T-C
• gnomAD v3: 19-10368309-T-C
• gnomAD v4: 19-10368309-T-C
• MyVariant Identifiers: chr19:g.10478985T>C (hg19) ; chr19:g.10368309T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10368309T>C , CM000681.2:g.10368309T>C	GRCh38
NC_000019.9:g.10478985T>C , CM000681.1:g.10478985T>C	GRCh37
NC_000019.8:g.10339985T>C	NCBI36
NG_007872.1:g.17264A>G , LRG_121:g.17264A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524470.2:c.303A>G	ENSP00000514307.1:p.Leu101=
ENST00000525976.6:c.303A>G	ENSP00000434831.2:p.Leu101=
ENST00000527481.3:c.303A>G	ENSP00000466340.2:p.Leu101=
ENST00000529370.6:n.634A>G
ENST00000529739.2:n.717A>G
ENST00000530829.2:c.424A>G	ENSP00000436826.2:p.Ile142Val
ENST00000531836.6:c.303A>G	ENSP00000436175.2:p.Leu101=
ENST00000533334.2:c.303A>G	ENSP00000432320.2:p.Leu101=
ENST00000534228.2:n.717A>G
ENST00000699355.1:c.303A>G	ENSP00000514328.1:p.Leu101=
ENST00000699356.1:n.717A>G
ENST00000699357.1:n.717A>G
ENST00000699358.1:c.303A>G	ENSP00000514329.1:p.Leu101=
ENST00000699360.1:c.303A>G	ENSP00000514331.1:p.Leu101=
ENST00000699369.1:n.646A>G
ENST00000699370.1:n.668A>G
ENST00000699371.1:c.303A>G	ENSP00000514336.1:p.Leu101=
ENST00000525621.6:c.303A>G MANE Select	ENSP00000431885.1:p.Leu101=
ENST00000264818.10:c.303A>G	ENSP00000264818.6:p.Leu101=
ENST00000524462.5:c.-90-1729A>G	ENSP00000433203.1:n.-90-1729A>G
ENST00000525621.5:c.303A>G	ENSP00000431885.1:p.Leu101=
ENST00000525824.1:c.216A>G	ENSP00000467288.1:p.Leu72=
ENST00000529317.1:n.231A>G
ENST00000529370.5:c.303A>G	ENSP00000432728.1:p.Leu101=
ENST00000531836.5:c.303A>G	ENSP00000436175.1:p.Leu101=
NM_003331.4:c.303A>G , LRG_121t1:c.303A>G	NP_003322.3:p.Leu101=
XM_011528245.1:c.303A>G	XP_011526547.1:p.Leu101=
XM_011528246.1:c.6A>G	XP_011526548.1:p.Leu2=
XM_011528247.1:c.6A>G	XP_011526549.1:p.Leu2=
XM_011528248.1:c.303A>G	XP_011526550.1:p.Leu101=
XM_011528250.1:c.303A>G	XP_011526552.1:p.Leu101=
XM_011528252.1:c.303A>G	XP_011526554.1:p.Leu101=
XM_011528246.3:c.6A>G	XP_011526548.1:p.Leu2=
XR_001753750.1:n.460A>G
XR_001753751.1:n.460A>G
XR_001753752.1:n.460A>G
XR_002958353.1:n.460A>G
NM_003331.5:c.303A>G MANE Select	NP_003322.3:p.Leu101=
NM_001385197.1:c.303A>G	NP_001372126.1:p.Leu101=
NM_001385198.1:c.303A>G	NP_001372127.1:p.Leu101=
NM_001385199.1:c.303A>G	NP_001372128.1:p.Leu101=
NM_001385200.1:c.303A>G	NP_001372129.1:p.Leu101=
NM_001385201.1:c.303A>G	NP_001372130.1:p.Leu101=
NM_001385202.1:c.303A>G	NP_001372131.1:p.Leu101=
NM_001385203.1:c.303A>G	NP_001372132.1:p.Leu101=
NM_001385204.1:c.303A>G	NP_001372133.1:p.Leu101=
NM_001385205.1:c.303A>G	NP_001372134.1:p.Leu101=
NM_001385206.1:c.303A>G	NP_001372135.1:p.Leu101=
NM_001385207.1:c.303A>G	NP_001372136.1:p.Leu101=