Canonical Allele Identifier: CA9192785

Gene: TYK2

Linked Data

• dbSNP Id: rs759309240
• ExAC: 19:10463197 C / T
• gnomAD v2: 19-10463197-C-T
• gnomAD v3: 19-10352521-C-T
• gnomAD v4: 19-10352521-C-T
• MyVariant Identifiers: chr19:g.10463197C>T (hg19) ; chr19:g.10352521C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352521C>T , CM000681.2:g.10352521C>T	GRCh38
NC_000019.9:g.10463197C>T , CM000681.1:g.10463197C>T	GRCh37
NC_000019.8:g.10324197C>T	NCBI36
NG_007872.1:g.33052G>A , LRG_121:g.33052G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1580G>A	ENSP00000514307.1:n.*1580G>A
ENST00000525976.6:c.3231G>A	ENSP00000434831.2:p.Lys1077=
ENST00000527481.3:c.*1G>A	ENSP00000466340.2:n.*1G>A
ENST00000529370.6:n.4607G>A
ENST00000529739.2:n.4040G>A
ENST00000530829.2:c.*2782G>A	ENSP00000436826.2:n.*2782G>A
ENST00000531836.6:c.3231G>A	ENSP00000436175.2:p.Lys1077=
ENST00000533334.2:c.*1242+405G>A	ENSP00000432320.2:n.*1242+405G>A
ENST00000534228.2:n.5054+405G>A
ENST00000699354.1:n.1333G>A
ENST00000699355.1:c.*2731G>A	ENSP00000514328.1:n.*2731G>A
ENST00000699356.1:n.4040G>A
ENST00000699357.1:n.5085G>A
ENST00000699358.1:c.3200+405G>A	ENSP00000514329.1:n.3200+405G>A
ENST00000699359.1:c.405G>A
ENST00000699360.1:c.3189G>A	ENSP00000514331.1:p.Lys1063=
ENST00000699361.1:n.265G>A
ENST00000699362.1:c.127G>A	ENSP00000514332.1:n.127G>A
ENST00000699363.1:c.127G>A	ENSP00000514333.1:n.127G>A
ENST00000699364.1:n.231G>A
ENST00000699365.1:c.300G>A	ENSP00000514334.1:p.Lys100=
ENST00000699366.1:n.111+1293G>A
ENST00000699367.1:n.111+1293G>A
ENST00000699368.1:c.718G>A	ENSP00000514335.1:n.718G>A
ENST00000525621.6:c.3231G>A MANE Select	ENSP00000431885.1:p.Lys1077=
ENST00000264818.10:c.3231G>A	ENSP00000264818.6:p.Lys1077=
ENST00000524462.5:c.2676G>A	ENSP00000433203.1:p.Lys892=
ENST00000525621.5:c.3231G>A	ENSP00000431885.1:p.Lys1077=
ENST00000527481.2:c.408G>A
ENST00000529422.1:n.116+501G>A
ENST00000529739.1:c.300G>A	ENSP00000436155.1:p.Lys100=
ENST00000530220.1:n.331+405G>A
ENST00000530560.5:c.337+1521G>A	ENSP00000465291.1:n.337+1521G>A
ENST00000592137.1:n.385G>A
NM_003331.4:c.3231G>A , LRG_121t1:c.3231G>A	NP_003322.3:p.Lys1077=
XM_011528245.1:c.3231G>A	XP_011526547.1:p.Lys1077=
XM_011528246.1:c.2934G>A	XP_011526548.1:p.Lys978=
XM_011528247.1:c.2934G>A	XP_011526549.1:p.Lys978=
XM_011528248.1:c.3200+405G>A	XP_011526550.1:n.3200+405G>A
XM_011528249.1:c.1905G>A	XP_011526551.1:p.Lys635=
XM_011528251.1:c.1488G>A	XP_011526553.1:p.Lys496=
XM_011528246.3:c.2934G>A	XP_011526548.1:p.Lys978=
XM_011528249.2:c.1905G>A	XP_011526551.1:p.Lys635=
XR_001753750.1:n.3357+405G>A
XR_001753751.1:n.3783G>A
XR_002958353.1:n.4709G>A
NM_003331.5:c.3231G>A MANE Select	NP_003322.3:p.Lys1077=
NM_001385197.1:c.3231G>A	NP_001372126.1:p.Lys1077=
NM_001385198.1:c.3168+437G>A	NP_001372127.1:n.3168+437G>A
NM_001385199.1:c.3045G>A	NP_001372128.1:p.Lys1015=
NM_001385200.1:c.3228G>A	NP_001372129.1:p.Lys1076=
NM_001385201.1:c.3033G>A	NP_001372130.1:p.Lys1011=
NM_001385202.1:c.3147G>A	NP_001372131.1:p.Lys1049=
NM_001385203.1:c.3312G>A	NP_001372132.1:p.Lys1104=
NM_001385204.1:c.3441G>A	NP_001372133.1:p.Lys1147=
NM_001385205.1:c.3141G>A	NP_001372134.1:p.Lys1047=
NM_001385206.1:c.3105G>A	NP_001372135.1:p.Lys1035=
NM_001385207.1:c.3213G>A	NP_001372136.1:p.Lys1071=