Canonical Allele Identifier: CA2582369553

Gene: TYK2

Linked Data

• ClinVar Variation Id: 2710520
• ClinVar RCV Id: RCV003515650
• gnomAD v4: 19-10351045-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10351045G>C , CM000681.2:g.10351045G>C	GRCh38
NC_000019.9:g.10461721G>C , CM000681.1:g.10461721G>C	GRCh37
NC_000019.8:g.10322721G>C	NCBI36
NG_007872.1:g.34528C>G , LRG_121:g.34528C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*2100+7C>G	ENSP00000514307.1:n.*2100+7C>G
ENST00000525976.6:c.3319-77C>G	ENSP00000434831.2:n.3319-77C>G
ENST00000527481.3:c.*199+7C>G	ENSP00000466340.2:n.*199+7C>G
ENST00000529370.6:n.4805+7C>G
ENST00000529739.2:n.4560+7C>G
ENST00000530829.2:c.*2980+7C>G	ENSP00000436826.2:n.*2980+7C>G
ENST00000531836.6:c.3429+7C>G	ENSP00000436175.2:n.3429+7C>G
ENST00000533334.2:c.*1353+7C>G	ENSP00000432320.2:n.*1353+7C>G
ENST00000534228.2:n.5165+7C>G
ENST00000699354.1:n.1531+7C>G
ENST00000699355.1:c.*2929+7C>G	ENSP00000514328.1:n.*2929+7C>G
ENST00000699356.1:n.4238+7C>G
ENST00000699357.1:n.5283+7C>G
ENST00000699358.1:c.*110+7C>G	ENSP00000514329.1:n.*110+7C>G
ENST00000699359.1:c.603+7C>G
ENST00000699360.1:c.3387+7C>G	ENSP00000514331.1:n.3387+7C>G
ENST00000699361.1:n.463+7C>G
ENST00000699362.1:c.325+7C>G	ENSP00000514332.1:n.325+7C>G
ENST00000699363.1:c.306+7C>G	ENSP00000514333.1:n.306+7C>G
ENST00000699364.1:n.429+7C>G
ENST00000699365.1:c.498+7C>G	ENSP00000514334.1:n.498+7C>G
ENST00000699366.1:n.112-77C>G
ENST00000699367.1:n.222+7C>G
ENST00000699368.1:c.916+7C>G	ENSP00000514335.1:n.916+7C>G
ENST00000525621.6:c.3429+7C>G MANE Select	ENSP00000431885.1:n.3429+7C>G
ENST00000264818.10:c.3429+7C>G	ENSP00000264818.6:n.3429+7C>G
ENST00000524462.5:c.2874+7C>G	ENSP00000433203.1:n.2874+7C>G
ENST00000524470.1:n.234+7C>G
ENST00000525621.5:c.3429+7C>G	ENSP00000431885.1:n.3429+7C>G
ENST00000525976.5:c.60-77C>G
ENST00000527481.2:c.606+7C>G
ENST00000529422.1:n.365C>G
ENST00000530220.1:n.332-77C>G
ENST00000530560.5:c.338-77C>G	ENSP00000465291.1:n.338-77C>G
NM_003331.4:c.3429+7C>G , LRG_121t1:c.3429+7C>G	NP_003322.3:n.3429+7C>G
XM_011528245.1:c.3429+7C>G	XP_011526547.1:n.3429+7C>G
XM_011528246.1:c.3132+7C>G	XP_011526548.1:n.3132+7C>G
XM_011528247.1:c.3132+7C>G	XP_011526549.1:n.3132+7C>G
XM_011528249.1:c.2103+7C>G	XP_011526551.1:n.2103+7C>G
XM_011528251.1:c.1686+7C>G	XP_011526553.1:n.1686+7C>G
XM_011528246.3:c.3132+7C>G	XP_011526548.1:n.3132+7C>G
XM_011528249.2:c.2103+7C>G	XP_011526551.1:n.2103+7C>G
XR_001753750.1:n.3468+7C>G
XR_001753751.1:n.4303+7C>G
XR_002958353.1:n.4907+7C>G
NM_003331.5:c.3429+7C>G MANE Select	NP_003322.3:n.3429+7C>G
NM_001385197.1:c.3319-77C>G	NP_001372126.1:n.3319-77C>G
NM_001385198.1:c.3279+7C>G	NP_001372127.1:n.3279+7C>G
NM_001385199.1:c.3243+7C>G	NP_001372128.1:n.3243+7C>G
NM_001385200.1:c.3426+7C>G	NP_001372129.1:n.3426+7C>G
NM_001385201.1:c.3231+7C>G	NP_001372130.1:n.3231+7C>G
NM_001385202.1:c.3345+7C>G	NP_001372131.1:n.3345+7C>G
NM_001385203.1:c.3510+7C>G	NP_001372132.1:n.3510+7C>G
NM_001385204.1:c.3639+7C>G	NP_001372133.1:n.3639+7C>G
NM_001385205.1:c.3339+7C>G	NP_001372134.1:n.3339+7C>G
NM_001385206.1:c.3303+7C>G	NP_001372135.1:n.3303+7C>G
NM_001385207.1:c.3411+7C>G	NP_001372136.1:n.3411+7C>G