Canonical Allele Identifier: CA403982972

Gene: TYK2

Linked Data

• gnomAD v4: 19-10352450-C-G
• MyVariant Identifiers: chr19:g.10463126C>G (hg19) ; chr19:g.10352450C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352450C>G , CM000681.2:g.10352450C>G	GRCh38
NC_000019.9:g.10463126C>G , CM000681.1:g.10463126C>G	GRCh37
NC_000019.8:g.10324126C>G	NCBI36
NG_007872.1:g.33123G>C , LRG_121:g.33123G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524470.2:c.*1651G>C	ENSP00000514307.1:n.*1651G>C
ENST00000525976.6:c.3302G>C	ENSP00000434831.2:p.Ser1101Thr
ENST00000527481.3:c.*72G>C	ENSP00000466340.2:n.*72G>C
ENST00000529370.6:n.4678G>C
ENST00000529739.2:n.4111G>C
ENST00000530829.2:c.*2853G>C	ENSP00000436826.2:n.*2853G>C
ENST00000531836.6:c.3302G>C	ENSP00000436175.2:p.Ser1101Thr
ENST00000533334.2:c.*1242+476G>C	ENSP00000432320.2:n.*1242+476G>C
ENST00000534228.2:n.5054+476G>C
ENST00000699354.1:n.1404G>C
ENST00000699355.1:c.*2802G>C	ENSP00000514328.1:n.*2802G>C
ENST00000699356.1:n.4111G>C
ENST00000699357.1:n.5156G>C
ENST00000699358.1:c.3200+476G>C	ENSP00000514329.1:n.3200+476G>C
ENST00000699359.1:c.476G>C
ENST00000699360.1:c.3260G>C	ENSP00000514331.1:p.Ser1087Thr
ENST00000699361.1:n.336G>C
ENST00000699362.1:c.198G>C	ENSP00000514332.1:n.198G>C
ENST00000699363.1:c.198G>C	ENSP00000514333.1:n.198G>C
ENST00000699364.1:n.302G>C
ENST00000699365.1:c.371G>C	ENSP00000514334.1:p.Ser124Thr
ENST00000699366.1:n.111+1364G>C
ENST00000699367.1:n.112-1288G>C
ENST00000699368.1:c.789G>C	ENSP00000514335.1:n.789G>C
ENST00000525621.6:c.3302G>C MANE Select	ENSP00000431885.1:p.Ser1101Thr
ENST00000264818.10:c.3302G>C	ENSP00000264818.6:p.Ser1101Thr
ENST00000524462.5:c.2747G>C	ENSP00000433203.1:p.Ser916Thr
ENST00000525621.5:c.3302G>C	ENSP00000431885.1:p.Ser1101Thr
ENST00000525976.5:c.43G>C
ENST00000527481.2:c.479G>C
ENST00000529422.1:n.116+572G>C
ENST00000529739.1:c.371G>C	ENSP00000436155.1:p.Ser124Thr
ENST00000530220.1:n.331+476G>C
ENST00000530560.5:c.338-1482G>C	ENSP00000465291.1:n.338-1482G>C
ENST00000592137.1:n.456G>C
NM_003331.4:c.3302G>C , LRG_121t1:c.3302G>C	NP_003322.3:p.Ser1101Thr
XM_011528245.1:c.3302G>C	XP_011526547.1:p.Ser1101Thr
XM_011528246.1:c.3005G>C	XP_011526548.1:p.Ser1002Thr
XM_011528247.1:c.3005G>C	XP_011526549.1:p.Ser1002Thr
XM_011528248.1:c.3200+476G>C	XP_011526550.1:n.3200+476G>C
XM_011528249.1:c.1976G>C	XP_011526551.1:p.Ser659Thr
XM_011528251.1:c.1559G>C	XP_011526553.1:p.Ser520Thr
XM_011528246.3:c.3005G>C	XP_011526548.1:p.Ser1002Thr
XM_011528249.2:c.1976G>C	XP_011526551.1:p.Ser659Thr
XR_001753750.1:n.3357+476G>C
XR_001753751.1:n.3854G>C
XR_002958353.1:n.4780G>C
NM_003331.5:c.3302G>C MANE Select	NP_003322.3:p.Ser1101Thr
NM_001385197.1:c.3302G>C	NP_001372126.1:p.Ser1101Thr
NM_001385198.1:c.3168+508G>C	NP_001372127.1:n.3168+508G>C
NM_001385199.1:c.3116G>C	NP_001372128.1:p.Ser1039Thr
NM_001385200.1:c.3299G>C	NP_001372129.1:p.Ser1100Thr
NM_001385201.1:c.3104G>C	NP_001372130.1:p.Ser1035Thr
NM_001385202.1:c.3218G>C	NP_001372131.1:p.Ser1073Thr
NM_001385203.1:c.3383G>C	NP_001372132.1:p.Ser1128Thr
NM_001385204.1:c.3512G>C	NP_001372133.1:p.Ser1171Thr
NM_001385205.1:c.3212G>C	NP_001372134.1:p.Ser1071Thr
NM_001385206.1:c.3176G>C	NP_001372135.1:p.Ser1059Thr
NM_001385207.1:c.3284G>C	NP_001372136.1:p.Ser1095Thr