Canonical Allele Identifier: CA403983055

Gene: TYK2

Linked Data

• gnomAD v4: 19-10352457-C-G
• MyVariant Identifiers: chr19:g.10463133C>G (hg19) ; chr19:g.10352457C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352457C>G , CM000681.2:g.10352457C>G	GRCh38
NC_000019.9:g.10463133C>G , CM000681.1:g.10463133C>G	GRCh37
NC_000019.8:g.10324133C>G	NCBI36
NG_007872.1:g.33116G>C , LRG_121:g.33116G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1644G>C	ENSP00000514307.1:n.*1644G>C
ENST00000525976.6:c.3295G>C	ENSP00000434831.2:p.Asp1099His
ENST00000527481.3:c.*65G>C	ENSP00000466340.2:n.*65G>C
ENST00000529370.6:n.4671G>C
ENST00000529739.2:n.4104G>C
ENST00000530829.2:c.*2846G>C	ENSP00000436826.2:n.*2846G>C
ENST00000531836.6:c.3295G>C	ENSP00000436175.2:p.Asp1099His
ENST00000533334.2:c.*1242+469G>C	ENSP00000432320.2:n.*1242+469G>C
ENST00000534228.2:n.5054+469G>C
ENST00000699354.1:n.1397G>C
ENST00000699355.1:c.*2795G>C	ENSP00000514328.1:n.*2795G>C
ENST00000699356.1:n.4104G>C
ENST00000699357.1:n.5149G>C
ENST00000699358.1:c.3200+469G>C	ENSP00000514329.1:n.3200+469G>C
ENST00000699359.1:c.469G>C
ENST00000699360.1:c.3253G>C	ENSP00000514331.1:p.Asp1085His
ENST00000699361.1:n.329G>C
ENST00000699362.1:c.191G>C	ENSP00000514332.1:n.191G>C
ENST00000699363.1:c.191G>C	ENSP00000514333.1:n.191G>C
ENST00000699364.1:n.295G>C
ENST00000699365.1:c.364G>C	ENSP00000514334.1:p.Asp122His
ENST00000699366.1:n.111+1357G>C
ENST00000699367.1:n.112-1295G>C
ENST00000699368.1:c.782G>C	ENSP00000514335.1:n.782G>C
ENST00000525621.6:c.3295G>C MANE Select	ENSP00000431885.1:p.Asp1099His
ENST00000264818.10:c.3295G>C	ENSP00000264818.6:p.Asp1099His
ENST00000524462.5:c.2740G>C	ENSP00000433203.1:p.Asp914His
ENST00000525621.5:c.3295G>C	ENSP00000431885.1:p.Asp1099His
ENST00000525976.5:c.36G>C
ENST00000527481.2:c.472G>C
ENST00000529422.1:n.116+565G>C
ENST00000529739.1:c.364G>C	ENSP00000436155.1:p.Asp122His
ENST00000530220.1:n.331+469G>C
ENST00000530560.5:c.338-1489G>C	ENSP00000465291.1:n.338-1489G>C
ENST00000592137.1:n.449G>C
NM_003331.4:c.3295G>C , LRG_121t1:c.3295G>C	NP_003322.3:p.Asp1099His
XM_011528245.1:c.3295G>C	XP_011526547.1:p.Asp1099His
XM_011528246.1:c.2998G>C	XP_011526548.1:p.Asp1000His
XM_011528247.1:c.2998G>C	XP_011526549.1:p.Asp1000His
XM_011528248.1:c.3200+469G>C	XP_011526550.1:n.3200+469G>C
XM_011528249.1:c.1969G>C	XP_011526551.1:p.Asp657His
XM_011528251.1:c.1552G>C	XP_011526553.1:p.Asp518His
XM_011528246.3:c.2998G>C	XP_011526548.1:p.Asp1000His
XM_011528249.2:c.1969G>C	XP_011526551.1:p.Asp657His
XR_001753750.1:n.3357+469G>C
XR_001753751.1:n.3847G>C
XR_002958353.1:n.4773G>C
NM_003331.5:c.3295G>C MANE Select	NP_003322.3:p.Asp1099His
NM_001385197.1:c.3295G>C	NP_001372126.1:p.Asp1099His
NM_001385198.1:c.3168+501G>C	NP_001372127.1:n.3168+501G>C
NM_001385199.1:c.3109G>C	NP_001372128.1:p.Asp1037His
NM_001385200.1:c.3292G>C	NP_001372129.1:p.Asp1098His
NM_001385201.1:c.3097G>C	NP_001372130.1:p.Asp1033His
NM_001385202.1:c.3211G>C	NP_001372131.1:p.Asp1071His
NM_001385203.1:c.3376G>C	NP_001372132.1:p.Asp1126His
NM_001385204.1:c.3505G>C	NP_001372133.1:p.Asp1169His
NM_001385205.1:c.3205G>C	NP_001372134.1:p.Asp1069His
NM_001385206.1:c.3169G>C	NP_001372135.1:p.Asp1057His
NM_001385207.1:c.3277G>C	NP_001372136.1:p.Asp1093His