Canonical Allele Identifier: CA783144538

Gene: TYK2

Linked Data

• dbSNP Id: rs1334034391
• gnomAD v3: 19-10357646-CAG-C
• gnomAD v4: 19-10357646-CAG-C
• MyVariant Identifiers: chr19:g.10468323_10468324del (hg19) ; chr19:g.10357647_10357648del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10357652_10357653del , CM000681.2:g.10357652_10357653del	GRCh38
NC_000019.9:g.10468328_10468329del , CM000681.1:g.10468328_10468329del	GRCh37
NC_000019.8:g.10329328_10329329del	NCBI36
NG_007872.1:g.27925_27926del , LRG_121:g.27925_27926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*815+116_*815+117del	ENSP00000514307.1:n.*815+116_*815+117del
ENST00000525976.6:c.2466+116_2466+117del	ENSP00000434831.2:n.2466+116_2466+117del
ENST00000527481.3:c.2466+116_2466+117del	ENSP00000466340.2:n.2466+116_2466+117del
ENST00000529370.6:n.2913_2914del
ENST00000529739.2:n.2880+116_2880+117del
ENST00000530829.2:c.*2017+116_*2017+117del	ENSP00000436826.2:n.*2017+116_*2017+117del
ENST00000531836.6:c.2466+116_2466+117del	ENSP00000436175.2:n.2466+116_2466+117del
ENST00000533334.2:c.*508+116_*508+117del	ENSP00000432320.2:n.*508+116_*508+117del
ENST00000534228.2:n.2996_2997del
ENST00000699354.1:n.568+116_568+117del
ENST00000699355.1:c.*642_*643del	ENSP00000514328.1:n.*642_*643del
ENST00000699356.1:n.2880+116_2880+117del
ENST00000699357.1:n.2996_2997del
ENST00000699358.1:c.2466+116_2466+117del	ENSP00000514329.1:n.2466+116_2466+117del
ENST00000699360.1:c.2466+116_2466+117del	ENSP00000514331.1:n.2466+116_2466+117del
ENST00000525621.6:c.2466+116_2466+117del MANE Select	ENSP00000431885.1:n.2466+116_2466+117del
ENST00000264818.10:c.2466+116_2466+117del	ENSP00000264818.6:n.2466+116_2466+117del
ENST00000524462.5:c.1911+116_1911+117del	ENSP00000433203.1:n.1911+116_1911+117del
ENST00000525621.5:c.2466+116_2466+117del	ENSP00000431885.1:n.2466+116_2466+117del
ENST00000529370.5:c.2582_2583del	ENSP00000432728.1:p.Ser861TrpfsTer14
ENST00000529412.1:n.138+116_138+117del
NM_003331.4:c.2466+116_2466+117del , LRG_121t1:c.2466+116_2466+117del	NP_003322.3:n.2466+116_2466+117del
XM_011528245.1:c.2466+116_2466+117del	XP_011526547.1:n.2466+116_2466+117del
XM_011528246.1:c.2169+116_2169+117del	XP_011526548.1:n.2169+116_2169+117del
XM_011528247.1:c.2169+116_2169+117del	XP_011526549.1:n.2169+116_2169+117del
XM_011528248.1:c.2466+116_2466+117del	XP_011526550.1:n.2466+116_2466+117del
XM_011528249.1:c.1140+116_1140+117del	XP_011526551.1:n.1140+116_1140+117del
XM_011528251.1:c.723+116_723+117del	XP_011526553.1:n.723+116_723+117del
XM_011528246.3:c.2169+116_2169+117del	XP_011526548.1:n.2169+116_2169+117del
XM_011528249.2:c.1140+116_1140+117del	XP_011526551.1:n.1140+116_1140+117del
XR_001753750.1:n.2623+116_2623+117del
XR_001753751.1:n.2623+116_2623+117del
XR_002958353.1:n.2620_2621del
NM_003331.5:c.2466+116_2466+117del MANE Select	NP_003322.3:n.2466+116_2466+117del
NM_001385197.1:c.2466+116_2466+117del	NP_001372126.1:n.2466+116_2466+117del
NM_001385198.1:c.2466+116_2466+117del	NP_001372127.1:n.2466+116_2466+117del
NM_001385199.1:c.2280+116_2280+117del	NP_001372128.1:n.2280+116_2280+117del
NM_001385200.1:c.2466+116_2466+117del	NP_001372129.1:n.2466+116_2466+117del
NM_001385201.1:c.2268+116_2268+117del	NP_001372130.1:n.2268+116_2268+117del
NM_001385202.1:c.2382+116_2382+117del	NP_001372131.1:n.2382+116_2382+117del
NM_001385203.1:c.2466+116_2466+117del	NP_001372132.1:n.2466+116_2466+117del
NM_001385204.1:c.2582_2583del	NP_001372133.1:p.Ser861TrpfsTer14
NM_001385205.1:c.2376+116_2376+117del	NP_001372134.1:n.2376+116_2376+117del
NM_001385206.1:c.2340+116_2340+117del	NP_001372135.1:n.2340+116_2340+117del
NM_001385207.1:c.2448+116_2448+117del	NP_001372136.1:n.2448+116_2448+117del