Canonical Allele Identifier: CA404002608

Gene: TYK2

Linked Data

• ClinVar Variation Id: 2608457
• ClinVar RCV Id: RCV003357703
• MyVariant Identifiers: chr19:g.10472545C>G (hg19) ; chr19:g.10361869C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10361869C>G , CM000681.2:g.10361869C>G	GRCh38
NC_000019.9:g.10472545C>G , CM000681.1:g.10472545C>G	GRCh37
NC_000019.8:g.10333545C>G	NCBI36
NG_007872.1:g.23704G>C , LRG_121:g.23704G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524470.2:c.*209G>C	ENSP00000514307.1:n.*209G>C
ENST00000525976.6:c.1860G>C	ENSP00000434831.2:p.Lys620Asn
ENST00000527481.3:c.1860G>C	ENSP00000466340.2:p.Lys620Asn
ENST00000529370.6:n.2191G>C
ENST00000529739.2:n.2274G>C
ENST00000530829.2:c.*1411G>C	ENSP00000436826.2:n.*1411G>C
ENST00000531836.6:c.1860G>C	ENSP00000436175.2:p.Lys620Asn
ENST00000533334.2:c.1860G>C	ENSP00000432320.2:p.Lys620Asn
ENST00000534228.2:n.2274G>C
ENST00000699355.1:c.1774-33G>C	ENSP00000514328.1:n.1774-33G>C
ENST00000699356.1:n.2274G>C
ENST00000699357.1:n.2274G>C
ENST00000699358.1:c.1860G>C	ENSP00000514329.1:p.Lys620Asn
ENST00000699360.1:c.1860G>C	ENSP00000514331.1:p.Lys620Asn
ENST00000525621.6:c.1860G>C MANE Select	ENSP00000431885.1:p.Lys620Asn
ENST00000264818.10:c.1860G>C	ENSP00000264818.6:p.Lys620Asn
ENST00000524462.5:c.1305G>C	ENSP00000433203.1:p.Lys435Asn
ENST00000525621.5:c.1860G>C	ENSP00000431885.1:p.Lys620Asn
ENST00000529370.5:c.1860G>C	ENSP00000432728.1:p.Lys620Asn
ENST00000531620.1:n.193G>C
ENST00000533334.1:c.37G>C
NM_003331.4:c.1860G>C , LRG_121t1:c.1860G>C	NP_003322.3:p.Lys620Asn
XM_011528245.1:c.1860G>C	XP_011526547.1:p.Lys620Asn
XM_011528246.1:c.1563G>C	XP_011526548.1:p.Lys521Asn
XM_011528247.1:c.1563G>C	XP_011526549.1:p.Lys521Asn
XM_011528248.1:c.1860G>C	XP_011526550.1:p.Lys620Asn
XM_011528249.1:c.534G>C	XP_011526551.1:p.Lys178Asn
XM_011528250.1:c.1860G>C	XP_011526552.1:p.Lys620Asn
XM_011528251.1:c.150-33G>C	XP_011526553.1:n.150-33G>C
XM_011528252.1:c.1774-33G>C	XP_011526554.1:n.1774-33G>C
XM_011528246.3:c.1563G>C	XP_011526548.1:p.Lys521Asn
XM_011528249.2:c.534G>C	XP_011526551.1:p.Lys178Asn
XR_001753750.1:n.2017G>C
XR_001753751.1:n.2017G>C
XR_001753752.1:n.2017G>C
XR_002958353.1:n.1931-33G>C
NM_003331.5:c.1860G>C MANE Select	NP_003322.3:p.Lys620Asn
NM_001385197.1:c.1860G>C	NP_001372126.1:p.Lys620Asn
NM_001385198.1:c.1860G>C	NP_001372127.1:p.Lys620Asn
NM_001385199.1:c.1773+209G>C	NP_001372128.1:n.1773+209G>C
NM_001385200.1:c.1860G>C	NP_001372129.1:p.Lys620Asn
NM_001385201.1:c.1662G>C	NP_001372130.1:p.Lys554Asn
NM_001385202.1:c.1809-33G>C	NP_001372131.1:n.1809-33G>C
NM_001385203.1:c.1860G>C	NP_001372132.1:p.Lys620Asn
NM_001385204.1:c.1860G>C	NP_001372133.1:p.Lys620Asn
NM_001385205.1:c.1770G>C	NP_001372134.1:p.Lys590Asn
NM_001385206.1:c.1734G>C	NP_001372135.1:p.Lys578Asn
NM_001385207.1:c.1842G>C	NP_001372136.1:p.Lys614Asn