Canonical Allele Identifier: CA9192937

Gene: TYK2

Linked Data

• ClinVar Variation Id: 1020357
• ClinVar RCV Id: RCV001319925
• dbSNP Id: rs745696767
• ExAC: 19:10464913 G / A
• gnomAD v2: 19-10464913-G-A
• gnomAD v4: 19-10354237-G-A
• MyVariant Identifiers: chr19:g.10464913G>A (hg19) ; chr19:g.10354237G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10354237G>A , CM000681.2:g.10354237G>A	GRCh38
NC_000019.9:g.10464913G>A , CM000681.1:g.10464913G>A	GRCh37
NC_000019.8:g.10325913G>A	NCBI36
NG_007872.1:g.31336C>T , LRG_121:g.31336C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1065-3C>T	ENSP00000514307.1:n.*1065-3C>T
ENST00000525976.6:c.2716-3C>T	ENSP00000434831.2:n.2716-3C>T
ENST00000527481.3:c.2716-3C>T	ENSP00000466340.2:n.2716-3C>T
ENST00000529370.6:n.4092-3C>T
ENST00000529739.2:n.3130-3C>T
ENST00000530829.2:c.*2267-3C>T	ENSP00000436826.2:n.*2267-3C>T
ENST00000531836.6:c.2716-3C>T	ENSP00000436175.2:n.2716-3C>T
ENST00000533334.2:c.*758-3C>T	ENSP00000432320.2:n.*758-3C>T
ENST00000534228.2:n.4175-3C>T
ENST00000699354.1:n.818-3C>T
ENST00000699355.1:c.*1821-3C>T	ENSP00000514328.1:n.*1821-3C>T
ENST00000699356.1:n.3130-3C>T
ENST00000699357.1:n.4175-3C>T
ENST00000699358.1:c.2716-3C>T	ENSP00000514329.1:n.2716-3C>T
ENST00000699360.1:c.2716-3C>T	ENSP00000514331.1:n.2716-3C>T
ENST00000525621.6:c.2716-3C>T MANE Select	ENSP00000431885.1:n.2716-3C>T
ENST00000264818.10:c.2716-3C>T	ENSP00000264818.6:n.2716-3C>T
ENST00000524462.5:c.2161-3C>T	ENSP00000433203.1:n.2161-3C>T
ENST00000525621.5:c.2716-3C>T	ENSP00000431885.1:n.2716-3C>T
ENST00000527481.2:c.12-3C>T
ENST00000529412.1:n.388-3C>T
ENST00000530560.5:c.145-3C>T	ENSP00000465291.1:n.145-3C>T
NM_003331.4:c.2716-3C>T , LRG_121t1:c.2716-3C>T	NP_003322.3:n.2716-3C>T
XM_011528245.1:c.2716-3C>T	XP_011526547.1:n.2716-3C>T
XM_011528246.1:c.2419-3C>T	XP_011526548.1:n.2419-3C>T
XM_011528247.1:c.2419-3C>T	XP_011526549.1:n.2419-3C>T
XM_011528248.1:c.2716-3C>T	XP_011526550.1:n.2716-3C>T
XM_011528249.1:c.1390-3C>T	XP_011526551.1:n.1390-3C>T
XM_011528251.1:c.973-3C>T	XP_011526553.1:n.973-3C>T
XM_011528246.3:c.2419-3C>T	XP_011526548.1:n.2419-3C>T
XM_011528249.2:c.1390-3C>T	XP_011526551.1:n.1390-3C>T
XR_001753750.1:n.2873-3C>T
XR_001753751.1:n.2873-3C>T
XR_002958353.1:n.3799-3C>T
NM_003331.5:c.2716-3C>T MANE Select	NP_003322.3:n.2716-3C>T
NM_001385197.1:c.2716-3C>T	NP_001372126.1:n.2716-3C>T
NM_001385198.1:c.2716-3C>T	NP_001372127.1:n.2716-3C>T
NM_001385199.1:c.2530-3C>T	NP_001372128.1:n.2530-3C>T
NM_001385200.1:c.2713-3C>T	NP_001372129.1:n.2713-3C>T
NM_001385201.1:c.2518-3C>T	NP_001372130.1:n.2518-3C>T
NM_001385202.1:c.2632-3C>T	NP_001372131.1:n.2632-3C>T
NM_001385203.1:c.2797-3C>T	NP_001372132.1:n.2797-3C>T
NM_001385204.1:c.2926-3C>T	NP_001372133.1:n.2926-3C>T
NM_001385205.1:c.2626-3C>T	NP_001372134.1:n.2626-3C>T
NM_001385206.1:c.2590-3C>T	NP_001372135.1:n.2590-3C>T
NM_001385207.1:c.2698-3C>T	NP_001372136.1:n.2698-3C>T