Canonical Allele Identifier: CA403983329

Gene: TYK2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1563T>C	ENSP00000514307.1:n.*1563T>C
ENST00000525976.6:c.3214T>C	ENSP00000434831.2:p.Cys1072Arg
ENST00000527481.3:c.3095T>C	ENSP00000466340.2:p.Val1032Ala
ENST00000529370.6:n.4590T>C
ENST00000529739.2:n.4023T>C
ENST00000530829.2:c.*2765T>C	ENSP00000436826.2:n.*2765T>C
ENST00000531836.6:c.3214T>C	ENSP00000436175.2:p.Cys1072Arg
ENST00000533334.2:c.*1242+388T>C	ENSP00000432320.2:n.*1242+388T>C
ENST00000534228.2:n.5054+388T>C
ENST00000699354.1:n.1316T>C
ENST00000699355.1:c.*2714T>C	ENSP00000514328.1:n.*2714T>C
ENST00000699356.1:n.4023T>C
ENST00000699357.1:n.5068T>C
ENST00000699358.1:c.3200+388T>C	ENSP00000514329.1:n.3200+388T>C
ENST00000699359.1:c.388T>C
ENST00000699360.1:c.3172T>C	ENSP00000514331.1:p.Cys1058Arg
ENST00000699361.1:n.248T>C
ENST00000699362.1:c.110T>C	ENSP00000514332.1:p.Val37Ala
ENST00000699363.1:c.110T>C	ENSP00000514333.1:p.Val37Ala
ENST00000699364.1:n.214T>C
ENST00000699365.1:c.283T>C	ENSP00000514334.1:p.Cys95Arg
ENST00000699366.1:n.111+1276T>C
ENST00000699367.1:n.111+1276T>C
ENST00000699368.1:c.701T>C	ENSP00000514335.1:n.701T>C
ENST00000525621.6:c.3214T>C MANE Select	ENSP00000431885.1:p.Cys1072Arg
ENST00000264818.10:c.3214T>C	ENSP00000264818.6:p.Cys1072Arg
ENST00000524462.5:c.2659T>C	ENSP00000433203.1:p.Cys887Arg
ENST00000525621.5:c.3214T>C	ENSP00000431885.1:p.Cys1072Arg
ENST00000527481.2:c.391T>C
ENST00000529422.1:n.116+484T>C
ENST00000529739.1:c.283T>C	ENSP00000436155.1:p.Cys95Arg
ENST00000530220.1:n.331+388T>C
ENST00000530560.5:c.337+1504T>C	ENSP00000465291.1:n.337+1504T>C
ENST00000592137.1:n.368T>C
NM_003331.4:c.3214T>C , LRG_121t1:c.3214T>C	NP_003322.3:p.Cys1072Arg
XM_011528245.1:c.3214T>C	XP_011526547.1:p.Cys1072Arg
XM_011528246.1:c.2917T>C	XP_011526548.1:p.Cys973Arg
XM_011528247.1:c.2917T>C	XP_011526549.1:p.Cys973Arg
XM_011528248.1:c.3200+388T>C	XP_011526550.1:n.3200+388T>C
XM_011528249.1:c.1888T>C	XP_011526551.1:p.Cys630Arg
XM_011528251.1:c.1471T>C	XP_011526553.1:p.Cys491Arg
XM_011528246.3:c.2917T>C	XP_011526548.1:p.Cys973Arg
XM_011528249.2:c.1888T>C	XP_011526551.1:p.Cys630Arg
XR_001753750.1:n.3357+388T>C
XR_001753751.1:n.3766T>C
XR_002958353.1:n.4692T>C
NM_003331.5:c.3214T>C MANE Select	NP_003322.3:p.Cys1072Arg
NM_001385197.1:c.3214T>C	NP_001372126.1:p.Cys1072Arg
NM_001385198.1:c.3168+420T>C	NP_001372127.1:n.3168+420T>C
NM_001385199.1:c.3028T>C	NP_001372128.1:p.Cys1010Arg
NM_001385200.1:c.3211T>C	NP_001372129.1:p.Cys1071Arg
NM_001385201.1:c.3016T>C	NP_001372130.1:p.Cys1006Arg
NM_001385202.1:c.3130T>C	NP_001372131.1:p.Cys1044Arg
NM_001385203.1:c.3295T>C	NP_001372132.1:p.Cys1099Arg
NM_001385204.1:c.3424T>C	NP_001372133.1:p.Cys1142Arg
NM_001385205.1:c.3124T>C	NP_001372134.1:p.Cys1042Arg
NM_001385206.1:c.3088T>C	NP_001372135.1:p.Cys1030Arg
NM_001385207.1:c.3196T>C	NP_001372136.1:p.Cys1066Arg