Canonical Allele Identifier: CA631924894

Gene: TYK2

Linked Data

• dbSNP Id: rs1190316825
• gnomAD v2: 19-10468392-T-TGGAGGGGCCCCCACTGCGG
• gnomAD v3: 19-10357716-T-TGGAGGGGCCCCCACTGCGG
• gnomAD v4: 19-10357716-T-TGGAGGGGCCCCCACTGCGG
• MyVariant Identifiers: chr19:g.10468392_10468393insGGAGGGGCCCCCACTGCGG (hg19) ; chr19:g.10357716_10357717insGGAGGGGCCCCCACTGCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10357723_10357741dup , CM000681.2:g.10357723_10357741dup	GRCh38
NC_000019.9:g.10468399_10468417dup , CM000681.1:g.10468399_10468417dup	GRCh37
NC_000019.8:g.10329399_10329417dup	NCBI36
NG_007872.1:g.27838_27856dup , LRG_121:g.27838_27856dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*815+29_*815+47dup	ENSP00000514307.1:n.*815+29_*815+47dup
ENST00000525976.6:c.2466+29_2466+47dup	ENSP00000434831.2:n.2466+29_2466+47dup
ENST00000527481.3:c.2466+29_2466+47dup	ENSP00000466340.2:n.2466+29_2466+47dup
ENST00000529370.6:n.2826_2844dup
ENST00000529739.2:n.2880+29_2880+47dup
ENST00000530829.2:c.*2017+29_*2017+47dup	ENSP00000436826.2:n.*2017+29_*2017+47dup
ENST00000531836.6:c.2466+29_2466+47dup	ENSP00000436175.2:n.2466+29_2466+47dup
ENST00000533334.2:c.*508+29_*508+47dup	ENSP00000432320.2:n.*508+29_*508+47dup
ENST00000534228.2:n.2909_2927dup
ENST00000699354.1:n.568+29_568+47dup
ENST00000699355.1:c.*555_*573dup	ENSP00000514328.1:n.*555_*573dup
ENST00000699356.1:n.2880+29_2880+47dup
ENST00000699357.1:n.2909_2927dup
ENST00000699358.1:c.2466+29_2466+47dup	ENSP00000514329.1:n.2466+29_2466+47dup
ENST00000699360.1:c.2466+29_2466+47dup	ENSP00000514331.1:n.2466+29_2466+47dup
ENST00000525621.6:c.2466+29_2466+47dup MANE Select	ENSP00000431885.1:n.2466+29_2466+47dup
ENST00000264818.10:c.2466+29_2466+47dup	ENSP00000264818.6:n.2466+29_2466+47dup
ENST00000524462.5:c.1911+29_1911+47dup	ENSP00000433203.1:n.1911+29_1911+47dup
ENST00000525621.5:c.2466+29_2466+47dup	ENSP00000431885.1:n.2466+29_2466+47dup
ENST00000529370.5:c.2495_2513dup	ENSP00000432728.1:p.Asn840SerfsTer?
ENST00000529412.1:n.138+29_138+47dup
NM_003331.4:c.2466+29_2466+47dup , LRG_121t1:c.2466+29_2466+47dup	NP_003322.3:n.2466+29_2466+47dup
XM_011528245.1:c.2466+29_2466+47dup	XP_011526547.1:n.2466+29_2466+47dup
XM_011528246.1:c.2169+29_2169+47dup	XP_011526548.1:n.2169+29_2169+47dup
XM_011528247.1:c.2169+29_2169+47dup	XP_011526549.1:n.2169+29_2169+47dup
XM_011528248.1:c.2466+29_2466+47dup	XP_011526550.1:n.2466+29_2466+47dup
XM_011528249.1:c.1140+29_1140+47dup	XP_011526551.1:n.1140+29_1140+47dup
XM_011528251.1:c.723+29_723+47dup	XP_011526553.1:n.723+29_723+47dup
XM_011528246.3:c.2169+29_2169+47dup	XP_011526548.1:n.2169+29_2169+47dup
XM_011528249.2:c.1140+29_1140+47dup	XP_011526551.1:n.1140+29_1140+47dup
XR_001753750.1:n.2623+29_2623+47dup
XR_001753751.1:n.2623+29_2623+47dup
XR_002958353.1:n.2533_2551dup
NM_003331.5:c.2466+29_2466+47dup MANE Select	NP_003322.3:n.2466+29_2466+47dup
NM_001385197.1:c.2466+29_2466+47dup	NP_001372126.1:n.2466+29_2466+47dup
NM_001385198.1:c.2466+29_2466+47dup	NP_001372127.1:n.2466+29_2466+47dup
NM_001385199.1:c.2280+29_2280+47dup	NP_001372128.1:n.2280+29_2280+47dup
NM_001385200.1:c.2466+29_2466+47dup	NP_001372129.1:n.2466+29_2466+47dup
NM_001385201.1:c.2268+29_2268+47dup	NP_001372130.1:n.2268+29_2268+47dup
NM_001385202.1:c.2382+29_2382+47dup	NP_001372131.1:n.2382+29_2382+47dup
NM_001385203.1:c.2466+29_2466+47dup	NP_001372132.1:n.2466+29_2466+47dup
NM_001385204.1:c.2495_2513dup	NP_001372133.1:p.Asn840SerfsTer?
NM_001385205.1:c.2376+29_2376+47dup	NP_001372134.1:n.2376+29_2376+47dup
NM_001385206.1:c.2340+29_2340+47dup	NP_001372135.1:n.2340+29_2340+47dup
NM_001385207.1:c.2448+29_2448+47dup	NP_001372136.1:n.2448+29_2448+47dup