Canonical Allele Identifier: CA9192771

Gene: TYK2

Linked Data

• ClinVar Variation Id: 2148504
• ClinVar RCV Id: RCV003068839
• dbSNP Id: rs757843261
• ExAC: 19:10463120 C / G
• gnomAD v2: 19-10463120-C-G
• gnomAD v3: 19-10352444-C-G
• gnomAD v4: 19-10352444-C-G
• MyVariant Identifiers: chr19:g.10463120C>G (hg19) ; chr19:g.10352444C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352444C>G , CM000681.2:g.10352444C>G	GRCh38
NC_000019.9:g.10463120C>G , CM000681.1:g.10463120C>G	GRCh37
NC_000019.8:g.10324120C>G	NCBI36
NG_007872.1:g.33129G>C , LRG_121:g.33129G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524470.2:c.*1657G>C	ENSP00000514307.1:n.*1657G>C
ENST00000525976.6:c.3308G>C	ENSP00000434831.2:p.Ser1103Thr
ENST00000527481.3:c.*78G>C	ENSP00000466340.2:n.*78G>C
ENST00000529370.6:n.4684G>C
ENST00000529739.2:n.4117G>C
ENST00000530829.2:c.*2859G>C	ENSP00000436826.2:n.*2859G>C
ENST00000531836.6:c.3308G>C	ENSP00000436175.2:p.Ser1103Thr
ENST00000533334.2:c.*1242+482G>C	ENSP00000432320.2:n.*1242+482G>C
ENST00000534228.2:n.5054+482G>C
ENST00000699354.1:n.1410G>C
ENST00000699355.1:c.*2808G>C	ENSP00000514328.1:n.*2808G>C
ENST00000699356.1:n.4117G>C
ENST00000699357.1:n.5162G>C
ENST00000699358.1:c.3200+482G>C	ENSP00000514329.1:n.3200+482G>C
ENST00000699359.1:c.482G>C
ENST00000699360.1:c.3266G>C	ENSP00000514331.1:p.Ser1089Thr
ENST00000699361.1:n.342G>C
ENST00000699362.1:c.204G>C	ENSP00000514332.1:n.204G>C
ENST00000699363.1:c.204G>C	ENSP00000514333.1:n.204G>C
ENST00000699364.1:n.308G>C
ENST00000699365.1:c.377G>C	ENSP00000514334.1:p.Ser126Thr
ENST00000699366.1:n.111+1370G>C
ENST00000699367.1:n.112-1282G>C
ENST00000699368.1:c.795G>C	ENSP00000514335.1:n.795G>C
ENST00000525621.6:c.3308G>C MANE Select	ENSP00000431885.1:p.Ser1103Thr
ENST00000264818.10:c.3308G>C	ENSP00000264818.6:p.Ser1103Thr
ENST00000524462.5:c.2753G>C	ENSP00000433203.1:p.Ser918Thr
ENST00000525621.5:c.3308G>C	ENSP00000431885.1:p.Ser1103Thr
ENST00000525976.5:c.49G>C
ENST00000527481.2:c.485G>C
ENST00000529422.1:n.116+578G>C
ENST00000529739.1:c.377G>C	ENSP00000436155.1:p.Ser126Thr
ENST00000530220.1:n.331+482G>C
ENST00000530560.5:c.338-1476G>C	ENSP00000465291.1:n.338-1476G>C
ENST00000592137.1:n.462G>C
NM_003331.4:c.3308G>C , LRG_121t1:c.3308G>C	NP_003322.3:p.Ser1103Thr
XM_011528245.1:c.3308G>C	XP_011526547.1:p.Ser1103Thr
XM_011528246.1:c.3011G>C	XP_011526548.1:p.Ser1004Thr
XM_011528247.1:c.3011G>C	XP_011526549.1:p.Ser1004Thr
XM_011528248.1:c.3200+482G>C	XP_011526550.1:n.3200+482G>C
XM_011528249.1:c.1982G>C	XP_011526551.1:p.Ser661Thr
XM_011528251.1:c.1565G>C	XP_011526553.1:p.Ser522Thr
XM_011528246.3:c.3011G>C	XP_011526548.1:p.Ser1004Thr
XM_011528249.2:c.1982G>C	XP_011526551.1:p.Ser661Thr
XR_001753750.1:n.3357+482G>C
XR_001753751.1:n.3860G>C
XR_002958353.1:n.4786G>C
NM_003331.5:c.3308G>C MANE Select	NP_003322.3:p.Ser1103Thr
NM_001385197.1:c.3308G>C	NP_001372126.1:p.Ser1103Thr
NM_001385198.1:c.3168+514G>C	NP_001372127.1:n.3168+514G>C
NM_001385199.1:c.3122G>C	NP_001372128.1:p.Ser1041Thr
NM_001385200.1:c.3305G>C	NP_001372129.1:p.Ser1102Thr
NM_001385201.1:c.3110G>C	NP_001372130.1:p.Ser1037Thr
NM_001385202.1:c.3224G>C	NP_001372131.1:p.Ser1075Thr
NM_001385203.1:c.3389G>C	NP_001372132.1:p.Ser1130Thr
NM_001385204.1:c.3518G>C	NP_001372133.1:p.Ser1173Thr
NM_001385205.1:c.3218G>C	NP_001372134.1:p.Ser1073Thr
NM_001385206.1:c.3182G>C	NP_001372135.1:p.Ser1061Thr
NM_001385207.1:c.3290G>C	NP_001372136.1:p.Ser1097Thr