Canonical Allele Identifier: CA9192920

Gene: TYK2

Linked Data

• dbSNP Id: rs56255228
• ExAC: 19:10464834 G / T
• gnomAD v2: 19-10464834-G-T
• gnomAD v4: 19-10354158-G-T
• MyVariant Identifiers: chr19:g.10464834G>T (hg19) ; chr19:g.10354158G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10354158G>T , CM000681.2:g.10354158G>T	GRCh38
NC_000019.9:g.10464834G>T , CM000681.1:g.10464834G>T	GRCh37
NC_000019.8:g.10325834G>T	NCBI36
NG_007872.1:g.31415C>A , LRG_121:g.31415C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1141C>A	ENSP00000514307.1:n.*1141C>A
ENST00000525976.6:c.2792C>A	ENSP00000434831.2:p.Ala931Asp
ENST00000527481.3:c.2792C>A	ENSP00000466340.2:p.Ala931Asp
ENST00000529370.6:n.4168C>A
ENST00000529739.2:n.3206C>A
ENST00000530829.2:c.*2343C>A	ENSP00000436826.2:n.*2343C>A
ENST00000531836.6:c.2792C>A	ENSP00000436175.2:p.Ala931Asp
ENST00000533334.2:c.*834C>A	ENSP00000432320.2:n.*834C>A
ENST00000534228.2:n.4251C>A
ENST00000699354.1:n.894C>A
ENST00000699355.1:c.*1897C>A	ENSP00000514328.1:n.*1897C>A
ENST00000699356.1:n.3206C>A
ENST00000699357.1:n.4251C>A
ENST00000699358.1:c.2792C>A	ENSP00000514329.1:p.Ala931Asp
ENST00000699360.1:c.2792C>A	ENSP00000514331.1:p.Ala931Asp
ENST00000525621.6:c.2792C>A MANE Select	ENSP00000431885.1:p.Ala931Asp
ENST00000264818.10:c.2792C>A	ENSP00000264818.6:p.Ala931Asp
ENST00000524462.5:c.2237C>A	ENSP00000433203.1:p.Ala746Asp
ENST00000525621.5:c.2792C>A	ENSP00000431885.1:p.Ala931Asp
ENST00000527481.2:c.88C>A
ENST00000529412.1:n.464C>A
ENST00000530560.5:c.221C>A	ENSP00000465291.1:p.Ala74Asp
NM_003331.4:c.2792C>A , LRG_121t1:c.2792C>A	NP_003322.3:p.Ala931Asp
XM_011528245.1:c.2792C>A	XP_011526547.1:p.Ala931Asp
XM_011528246.1:c.2495C>A	XP_011526548.1:p.Ala832Asp
XM_011528247.1:c.2495C>A	XP_011526549.1:p.Ala832Asp
XM_011528248.1:c.2792C>A	XP_011526550.1:p.Ala931Asp
XM_011528249.1:c.1466C>A	XP_011526551.1:p.Ala489Asp
XM_011528251.1:c.1049C>A	XP_011526553.1:p.Ala350Asp
XM_011528246.3:c.2495C>A	XP_011526548.1:p.Ala832Asp
XM_011528249.2:c.1466C>A	XP_011526551.1:p.Ala489Asp
XR_001753750.1:n.2949C>A
XR_001753751.1:n.2949C>A
XR_002958353.1:n.3875C>A
NM_003331.5:c.2792C>A MANE Select	NP_003322.3:p.Ala931Asp
NM_001385197.1:c.2792C>A	NP_001372126.1:p.Ala931Asp
NM_001385198.1:c.2792C>A	NP_001372127.1:p.Ala931Asp
NM_001385199.1:c.2606C>A	NP_001372128.1:p.Ala869Asp
NM_001385200.1:c.2789C>A	NP_001372129.1:p.Ala930Asp
NM_001385201.1:c.2594C>A	NP_001372130.1:p.Ala865Asp
NM_001385202.1:c.2708C>A	NP_001372131.1:p.Ala903Asp
NM_001385203.1:c.2873C>A	NP_001372132.1:p.Ala958Asp
NM_001385204.1:c.3002C>A	NP_001372133.1:p.Ala1001Asp
NM_001385205.1:c.2702C>A	NP_001372134.1:p.Ala901Asp
NM_001385206.1:c.2666C>A	NP_001372135.1:p.Ala889Asp
NM_001385207.1:c.2774C>A	NP_001372136.1:p.Ala925Asp