Canonical Allele Identifier: CA403988406

Gene: TYK2

Linked Data

• ClinVar Variation Id: 577905
• ClinVar RCV Id: RCV000700765
• dbSNP Id: rs1489073249
• MyVariant Identifiers: chr19:g.10464814G>C (hg19) ; chr19:g.10354138G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10354138G>C , CM000681.2:g.10354138G>C	GRCh38
NC_000019.9:g.10464814G>C , CM000681.1:g.10464814G>C	GRCh37
NC_000019.8:g.10325814G>C	NCBI36
NG_007872.1:g.31435C>G , LRG_121:g.31435C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1161C>G	ENSP00000514307.1:n.*1161C>G
ENST00000525976.6:c.2812C>G	ENSP00000434831.2:p.Pro938Ala
ENST00000527481.3:c.2812C>G	ENSP00000466340.2:p.Pro938Ala
ENST00000529370.6:n.4188C>G
ENST00000529739.2:n.3226C>G
ENST00000530829.2:c.*2363C>G	ENSP00000436826.2:n.*2363C>G
ENST00000531836.6:c.2812C>G	ENSP00000436175.2:p.Pro938Ala
ENST00000533334.2:c.*854C>G	ENSP00000432320.2:n.*854C>G
ENST00000534228.2:n.4271C>G
ENST00000699354.1:n.914C>G
ENST00000699355.1:c.*1917C>G	ENSP00000514328.1:n.*1917C>G
ENST00000699356.1:n.3226C>G
ENST00000699357.1:n.4271C>G
ENST00000699358.1:c.2812C>G	ENSP00000514329.1:p.Pro938Ala
ENST00000699359.1:c.18C>G
ENST00000699360.1:c.2812C>G	ENSP00000514331.1:p.Pro938Ala
ENST00000699368.1:c.16C>G	ENSP00000514335.1:p.Pro6Ala
ENST00000525621.6:c.2812C>G MANE Select	ENSP00000431885.1:p.Pro938Ala
ENST00000264818.10:c.2812C>G	ENSP00000264818.6:p.Pro938Ala
ENST00000524462.5:c.2257C>G	ENSP00000433203.1:p.Pro753Ala
ENST00000525621.5:c.2812C>G	ENSP00000431885.1:p.Pro938Ala
ENST00000527481.2:c.108C>G
ENST00000529412.1:n.484C>G
ENST00000530560.5:c.241C>G	ENSP00000465291.1:p.Pro81Ala
NM_003331.4:c.2812C>G , LRG_121t1:c.2812C>G	NP_003322.3:p.Pro938Ala
XM_011528245.1:c.2812C>G	XP_011526547.1:p.Pro938Ala
XM_011528246.1:c.2515C>G	XP_011526548.1:p.Pro839Ala
XM_011528247.1:c.2515C>G	XP_011526549.1:p.Pro839Ala
XM_011528248.1:c.2812C>G	XP_011526550.1:p.Pro938Ala
XM_011528249.1:c.1486C>G	XP_011526551.1:p.Pro496Ala
XM_011528251.1:c.1069C>G	XP_011526553.1:p.Pro357Ala
XM_011528246.3:c.2515C>G	XP_011526548.1:p.Pro839Ala
XM_011528249.2:c.1486C>G	XP_011526551.1:p.Pro496Ala
XR_001753750.1:n.2969C>G
XR_001753751.1:n.2969C>G
XR_002958353.1:n.3895C>G
NM_003331.5:c.2812C>G MANE Select	NP_003322.3:p.Pro938Ala
NM_001385197.1:c.2812C>G	NP_001372126.1:p.Pro938Ala
NM_001385198.1:c.2812C>G	NP_001372127.1:p.Pro938Ala
NM_001385199.1:c.2626C>G	NP_001372128.1:p.Pro876Ala
NM_001385200.1:c.2809C>G	NP_001372129.1:p.Pro937Ala
NM_001385201.1:c.2614C>G	NP_001372130.1:p.Pro872Ala
NM_001385202.1:c.2728C>G	NP_001372131.1:p.Pro910Ala
NM_001385203.1:c.2893C>G	NP_001372132.1:p.Pro965Ala
NM_001385204.1:c.3022C>G	NP_001372133.1:p.Pro1008Ala
NM_001385205.1:c.2722C>G	NP_001372134.1:p.Pro908Ala
NM_001385206.1:c.2686C>G	NP_001372135.1:p.Pro896Ala
NM_001385207.1:c.2794C>G	NP_001372136.1:p.Pro932Ala