Canonical Allele Identifier: CA9192776

Gene: TYK2

Linked Data

• dbSNP Id: rs746770166
• ExAC: 19:10463129 G / C
• gnomAD v2: 19-10463129-G-C
• gnomAD v3: 19-10352453-G-C
• gnomAD v4: 19-10352453-G-C
• MyVariant Identifiers: chr19:g.10463129G>C (hg19) ; chr19:g.10352453G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352453G>C , CM000681.2:g.10352453G>C	GRCh38
NC_000019.9:g.10463129G>C , CM000681.1:g.10463129G>C	GRCh37
NC_000019.8:g.10324129G>C	NCBI36
NG_007872.1:g.33120C>G , LRG_121:g.33120C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524470.2:c.*1648C>G	ENSP00000514307.1:n.*1648C>G
ENST00000525976.6:c.3299C>G	ENSP00000434831.2:p.Ser1100Cys
ENST00000527481.3:c.*69C>G	ENSP00000466340.2:n.*69C>G
ENST00000529370.6:n.4675C>G
ENST00000529739.2:n.4108C>G
ENST00000530829.2:c.*2850C>G	ENSP00000436826.2:n.*2850C>G
ENST00000531836.6:c.3299C>G	ENSP00000436175.2:p.Ser1100Cys
ENST00000533334.2:c.*1242+473C>G	ENSP00000432320.2:n.*1242+473C>G
ENST00000534228.2:n.5054+473C>G
ENST00000699354.1:n.1401C>G
ENST00000699355.1:c.*2799C>G	ENSP00000514328.1:n.*2799C>G
ENST00000699356.1:n.4108C>G
ENST00000699357.1:n.5153C>G
ENST00000699358.1:c.3200+473C>G	ENSP00000514329.1:n.3200+473C>G
ENST00000699359.1:c.473C>G
ENST00000699360.1:c.3257C>G	ENSP00000514331.1:p.Ser1086Cys
ENST00000699361.1:n.333C>G
ENST00000699362.1:c.195C>G	ENSP00000514332.1:n.195C>G
ENST00000699363.1:c.195C>G	ENSP00000514333.1:n.195C>G
ENST00000699364.1:n.299C>G
ENST00000699365.1:c.368C>G	ENSP00000514334.1:p.Ser123Cys
ENST00000699366.1:n.111+1361C>G
ENST00000699367.1:n.112-1291C>G
ENST00000699368.1:c.786C>G	ENSP00000514335.1:n.786C>G
ENST00000525621.6:c.3299C>G MANE Select	ENSP00000431885.1:p.Ser1100Cys
ENST00000264818.10:c.3299C>G	ENSP00000264818.6:p.Ser1100Cys
ENST00000524462.5:c.2744C>G	ENSP00000433203.1:p.Ser915Cys
ENST00000525621.5:c.3299C>G	ENSP00000431885.1:p.Ser1100Cys
ENST00000525976.5:c.40C>G
ENST00000527481.2:c.476C>G
ENST00000529422.1:n.116+569C>G
ENST00000529739.1:c.368C>G	ENSP00000436155.1:p.Ser123Cys
ENST00000530220.1:n.331+473C>G
ENST00000530560.5:c.338-1485C>G	ENSP00000465291.1:n.338-1485C>G
ENST00000592137.1:n.453C>G
NM_003331.4:c.3299C>G , LRG_121t1:c.3299C>G	NP_003322.3:p.Ser1100Cys
XM_011528245.1:c.3299C>G	XP_011526547.1:p.Ser1100Cys
XM_011528246.1:c.3002C>G	XP_011526548.1:p.Ser1001Cys
XM_011528247.1:c.3002C>G	XP_011526549.1:p.Ser1001Cys
XM_011528248.1:c.3200+473C>G	XP_011526550.1:n.3200+473C>G
XM_011528249.1:c.1973C>G	XP_011526551.1:p.Ser658Cys
XM_011528251.1:c.1556C>G	XP_011526553.1:p.Ser519Cys
XM_011528246.3:c.3002C>G	XP_011526548.1:p.Ser1001Cys
XM_011528249.2:c.1973C>G	XP_011526551.1:p.Ser658Cys
XR_001753750.1:n.3357+473C>G
XR_001753751.1:n.3851C>G
XR_002958353.1:n.4777C>G
NM_003331.5:c.3299C>G MANE Select	NP_003322.3:p.Ser1100Cys
NM_001385197.1:c.3299C>G	NP_001372126.1:p.Ser1100Cys
NM_001385198.1:c.3168+505C>G	NP_001372127.1:n.3168+505C>G
NM_001385199.1:c.3113C>G	NP_001372128.1:p.Ser1038Cys
NM_001385200.1:c.3296C>G	NP_001372129.1:p.Ser1099Cys
NM_001385201.1:c.3101C>G	NP_001372130.1:p.Ser1034Cys
NM_001385202.1:c.3215C>G	NP_001372131.1:p.Ser1072Cys
NM_001385203.1:c.3380C>G	NP_001372132.1:p.Ser1127Cys
NM_001385204.1:c.3509C>G	NP_001372133.1:p.Ser1170Cys
NM_001385205.1:c.3209C>G	NP_001372134.1:p.Ser1070Cys
NM_001385206.1:c.3173C>G	NP_001372135.1:p.Ser1058Cys
NM_001385207.1:c.3281C>G	NP_001372136.1:p.Ser1094Cys