Canonical Allele Identifier: CA403983328

Gene: TYK2

Linked Data

• gnomAD v4: 19-10352538-A-C
• MyVariant Identifiers: chr19:g.10463214A>C (hg19) ; chr19:g.10352538A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352538A>C , CM000681.2:g.10352538A>C	GRCh38
NC_000019.9:g.10463214A>C , CM000681.1:g.10463214A>C	GRCh37
NC_000019.8:g.10324214A>C	NCBI36
NG_007872.1:g.33035T>G , LRG_121:g.33035T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1563T>G	ENSP00000514307.1:n.*1563T>G
ENST00000525976.6:c.3214T>G	ENSP00000434831.2:p.Cys1072Gly
ENST00000527481.3:c.3095T>G	ENSP00000466340.2:p.Val1032Gly
ENST00000529370.6:n.4590T>G
ENST00000529739.2:n.4023T>G
ENST00000530829.2:c.*2765T>G	ENSP00000436826.2:n.*2765T>G
ENST00000531836.6:c.3214T>G	ENSP00000436175.2:p.Cys1072Gly
ENST00000533334.2:c.*1242+388T>G	ENSP00000432320.2:n.*1242+388T>G
ENST00000534228.2:n.5054+388T>G
ENST00000699354.1:n.1316T>G
ENST00000699355.1:c.*2714T>G	ENSP00000514328.1:n.*2714T>G
ENST00000699356.1:n.4023T>G
ENST00000699357.1:n.5068T>G
ENST00000699358.1:c.3200+388T>G	ENSP00000514329.1:n.3200+388T>G
ENST00000699359.1:c.388T>G
ENST00000699360.1:c.3172T>G	ENSP00000514331.1:p.Cys1058Gly
ENST00000699361.1:n.248T>G
ENST00000699362.1:c.110T>G	ENSP00000514332.1:p.Val37Gly
ENST00000699363.1:c.110T>G	ENSP00000514333.1:p.Val37Gly
ENST00000699364.1:n.214T>G
ENST00000699365.1:c.283T>G	ENSP00000514334.1:p.Cys95Gly
ENST00000699366.1:n.111+1276T>G
ENST00000699367.1:n.111+1276T>G
ENST00000699368.1:c.701T>G	ENSP00000514335.1:n.701T>G
ENST00000525621.6:c.3214T>G MANE Select	ENSP00000431885.1:p.Cys1072Gly
ENST00000264818.10:c.3214T>G	ENSP00000264818.6:p.Cys1072Gly
ENST00000524462.5:c.2659T>G	ENSP00000433203.1:p.Cys887Gly
ENST00000525621.5:c.3214T>G	ENSP00000431885.1:p.Cys1072Gly
ENST00000527481.2:c.391T>G
ENST00000529422.1:n.116+484T>G
ENST00000529739.1:c.283T>G	ENSP00000436155.1:p.Cys95Gly
ENST00000530220.1:n.331+388T>G
ENST00000530560.5:c.337+1504T>G	ENSP00000465291.1:n.337+1504T>G
ENST00000592137.1:n.368T>G
NM_003331.4:c.3214T>G , LRG_121t1:c.3214T>G	NP_003322.3:p.Cys1072Gly
XM_011528245.1:c.3214T>G	XP_011526547.1:p.Cys1072Gly
XM_011528246.1:c.2917T>G	XP_011526548.1:p.Cys973Gly
XM_011528247.1:c.2917T>G	XP_011526549.1:p.Cys973Gly
XM_011528248.1:c.3200+388T>G	XP_011526550.1:n.3200+388T>G
XM_011528249.1:c.1888T>G	XP_011526551.1:p.Cys630Gly
XM_011528251.1:c.1471T>G	XP_011526553.1:p.Cys491Gly
XM_011528246.3:c.2917T>G	XP_011526548.1:p.Cys973Gly
XM_011528249.2:c.1888T>G	XP_011526551.1:p.Cys630Gly
XR_001753750.1:n.3357+388T>G
XR_001753751.1:n.3766T>G
XR_002958353.1:n.4692T>G
NM_003331.5:c.3214T>G MANE Select	NP_003322.3:p.Cys1072Gly
NM_001385197.1:c.3214T>G	NP_001372126.1:p.Cys1072Gly
NM_001385198.1:c.3168+420T>G	NP_001372127.1:n.3168+420T>G
NM_001385199.1:c.3028T>G	NP_001372128.1:p.Cys1010Gly
NM_001385200.1:c.3211T>G	NP_001372129.1:p.Cys1071Gly
NM_001385201.1:c.3016T>G	NP_001372130.1:p.Cys1006Gly
NM_001385202.1:c.3130T>G	NP_001372131.1:p.Cys1044Gly
NM_001385203.1:c.3295T>G	NP_001372132.1:p.Cys1099Gly
NM_001385204.1:c.3424T>G	NP_001372133.1:p.Cys1142Gly
NM_001385205.1:c.3124T>G	NP_001372134.1:p.Cys1042Gly
NM_001385206.1:c.3088T>G	NP_001372135.1:p.Cys1030Gly
NM_001385207.1:c.3196T>G	NP_001372136.1:p.Cys1066Gly