Canonical Allele Identifier: CA403996387

Gene: TYK2

Linked Data

• ClinVar Variation Id: 2107460
• ClinVar RCV Id: RCV003029222
• MyVariant Identifiers: chr19:g.10468690A>G (hg19) ; chr19:g.10358014A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10358014A>G , CM000681.2:g.10358014A>G	GRCh38
NC_000019.9:g.10468690A>G , CM000681.1:g.10468690A>G	GRCh37
NC_000019.8:g.10329690A>G	NCBI36
NG_007872.1:g.27559T>C , LRG_121:g.27559T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524470.2:c.*649T>C	ENSP00000514307.1:n.*649T>C
ENST00000525976.6:c.2300T>C	ENSP00000434831.2:p.Leu767Pro
ENST00000527481.3:c.2300T>C	ENSP00000466340.2:p.Leu767Pro
ENST00000529370.6:n.2631T>C
ENST00000529739.2:n.2714T>C
ENST00000530829.2:c.*1851T>C	ENSP00000436826.2:n.*1851T>C
ENST00000531836.6:c.2300T>C	ENSP00000436175.2:p.Leu767Pro
ENST00000533334.2:c.*342T>C	ENSP00000432320.2:n.*342T>C
ENST00000534228.2:n.2714T>C
ENST00000699354.1:n.402T>C
ENST00000699355.1:c.*360T>C	ENSP00000514328.1:n.*360T>C
ENST00000699356.1:n.2714T>C
ENST00000699357.1:n.2714T>C
ENST00000699358.1:c.2300T>C	ENSP00000514329.1:p.Leu767Pro
ENST00000699360.1:c.2300T>C	ENSP00000514331.1:p.Leu767Pro
ENST00000525621.6:c.2300T>C MANE Select	ENSP00000431885.1:p.Leu767Pro
ENST00000264818.10:c.2300T>C	ENSP00000264818.6:p.Leu767Pro
ENST00000524462.5:c.1745T>C	ENSP00000433203.1:p.Leu582Pro
ENST00000525621.5:c.2300T>C	ENSP00000431885.1:p.Leu767Pro
ENST00000529370.5:c.2300T>C	ENSP00000432728.1:p.Leu767Pro
ENST00000533334.1:c.589T>C
NM_003331.4:c.2300T>C , LRG_121t1:c.2300T>C	NP_003322.3:p.Leu767Pro
XM_011528245.1:c.2300T>C	XP_011526547.1:p.Leu767Pro
XM_011528246.1:c.2003T>C	XP_011526548.1:p.Leu668Pro
XM_011528247.1:c.2003T>C	XP_011526549.1:p.Leu668Pro
XM_011528248.1:c.2300T>C	XP_011526550.1:p.Leu767Pro
XM_011528249.1:c.974T>C	XP_011526551.1:p.Leu325Pro
XM_011528251.1:c.557T>C	XP_011526553.1:p.Leu186Pro
XM_011528246.3:c.2003T>C	XP_011526548.1:p.Leu668Pro
XM_011528249.2:c.974T>C	XP_011526551.1:p.Leu325Pro
XR_001753750.1:n.2457T>C
XR_001753751.1:n.2457T>C
XR_001753752.1:n.2569T>C
XR_002958353.1:n.2338T>C
NM_003331.5:c.2300T>C MANE Select	NP_003322.3:p.Leu767Pro
NM_001385197.1:c.2300T>C	NP_001372126.1:p.Leu767Pro
NM_001385198.1:c.2300T>C	NP_001372127.1:p.Leu767Pro
NM_001385199.1:c.2114T>C	NP_001372128.1:p.Leu705Pro
NM_001385200.1:c.2300T>C	NP_001372129.1:p.Leu767Pro
NM_001385201.1:c.2102T>C	NP_001372130.1:p.Leu701Pro
NM_001385202.1:c.2216T>C	NP_001372131.1:p.Leu739Pro
NM_001385203.1:c.2300T>C	NP_001372132.1:p.Leu767Pro
NM_001385204.1:c.2300T>C	NP_001372133.1:p.Leu767Pro
NM_001385205.1:c.2210T>C	NP_001372134.1:p.Leu737Pro
NM_001385206.1:c.2174T>C	NP_001372135.1:p.Leu725Pro
NM_001385207.1:c.2282T>C	NP_001372136.1:p.Leu761Pro