Canonical Allele Identifier: CA993441670

Gene: TYK2

Linked Data

• dbSNP Id: rs2040937317
• gnomAD v3: 19-10353815-TGAG-T
• gnomAD v4: 19-10353815-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10353817_10353819del , CM000681.2:g.10353817_10353819del	GRCh38
NC_000019.9:g.10464493_10464495del , CM000681.1:g.10464493_10464495del	GRCh37
NC_000019.8:g.10325493_10325495del	NCBI36
NG_007872.1:g.31755_31757del , LRG_121:g.31755_31757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1258-172_*1258-170del	ENSP00000514307.1:n.*1258-172_*1258-170del
ENST00000525976.6:c.2909-172_2909-170del	ENSP00000434831.2:n.2909-172_2909-170del
ENST00000527481.3:c.2908+224_2908+226del	ENSP00000466340.2:n.2908+224_2908+226del
ENST00000529370.6:n.4285-172_4285-170del
ENST00000529739.2:n.3546_3548del
ENST00000530829.2:c.*2460-172_*2460-170del	ENSP00000436826.2:n.*2460-172_*2460-170del
ENST00000531836.6:c.2909-172_2909-170del	ENSP00000436175.2:n.2909-172_2909-170del
ENST00000533334.2:c.*951-172_*951-170del	ENSP00000432320.2:n.*951-172_*951-170del
ENST00000534228.2:n.4591_4593del
ENST00000699354.1:n.1011-172_1011-170del
ENST00000699355.1:c.*2237_*2239del	ENSP00000514328.1:n.*2237_*2239del
ENST00000699356.1:n.3546_3548del
ENST00000699357.1:n.4591_4593del
ENST00000699358.1:c.2909-172_2909-170del	ENSP00000514329.1:n.2909-172_2909-170del
ENST00000699359.1:c.115-172_115-170del
ENST00000699360.1:c.2909-172_2909-170del	ENSP00000514331.1:n.2909-172_2909-170del
ENST00000699364.1:n.23_25del
ENST00000699365.1:c.-28_-26del	ENSP00000514334.1:n.-28_-26del
ENST00000699366.1:n.107_109del
ENST00000699367.1:n.107_109del
ENST00000699368.1:c.224_226del	ENSP00000514335.1:n.224_226del
ENST00000525621.6:c.2909-172_2909-170del MANE Select	ENSP00000431885.1:n.2909-172_2909-170del
ENST00000264818.10:c.2909-172_2909-170del	ENSP00000264818.6:n.2909-172_2909-170del
ENST00000524462.5:c.2354-172_2354-170del	ENSP00000433203.1:n.2354-172_2354-170del
ENST00000525621.5:c.2909-172_2909-170del	ENSP00000431885.1:n.2909-172_2909-170del
ENST00000527481.2:c.204+224_204+226del
ENST00000529739.1:c.-195_-193del	ENSP00000436155.1:n.-195_-193del
ENST00000530560.5:c.337+224_337+226del	ENSP00000465291.1:n.337+224_337+226del
ENST00000592137.1:n.63-172_63-170del
NM_003331.4:c.2909-172_2909-170del , LRG_121t1:c.2909-172_2909-170del	NP_003322.3:n.2909-172_2909-170del
XM_011528245.1:c.2909-172_2909-170del	XP_011526547.1:n.2909-172_2909-170del
XM_011528246.1:c.2612-172_2612-170del	XP_011526548.1:n.2612-172_2612-170del
XM_011528247.1:c.2612-172_2612-170del	XP_011526549.1:n.2612-172_2612-170del
XM_011528248.1:c.2909-172_2909-170del	XP_011526550.1:n.2909-172_2909-170del
XM_011528249.1:c.1583-172_1583-170del	XP_011526551.1:n.1583-172_1583-170del
XM_011528251.1:c.1166-172_1166-170del	XP_011526553.1:n.1166-172_1166-170del
XM_011528246.3:c.2612-172_2612-170del	XP_011526548.1:n.2612-172_2612-170del
XM_011528249.2:c.1583-172_1583-170del	XP_011526551.1:n.1583-172_1583-170del
XR_001753750.1:n.3066-172_3066-170del
XR_001753751.1:n.3289_3291del
XR_002958353.1:n.4215_4217del
NM_003331.5:c.2909-172_2909-170del MANE Select	NP_003322.3:n.2909-172_2909-170del
NM_001385197.1:c.2909-172_2909-170del	NP_001372126.1:n.2909-172_2909-170del
NM_001385198.1:c.2909-172_2909-170del	NP_001372127.1:n.2909-172_2909-170del
NM_001385199.1:c.2723-172_2723-170del	NP_001372128.1:n.2723-172_2723-170del
NM_001385200.1:c.2906-172_2906-170del	NP_001372129.1:n.2906-172_2906-170del
NM_001385201.1:c.2711-172_2711-170del	NP_001372130.1:n.2711-172_2711-170del
NM_001385202.1:c.2825-172_2825-170del	NP_001372131.1:n.2825-172_2825-170del
NM_001385203.1:c.2990-172_2990-170del	NP_001372132.1:n.2990-172_2990-170del
NM_001385204.1:c.3119-172_3119-170del	NP_001372133.1:n.3119-172_3119-170del
NM_001385205.1:c.2819-172_2819-170del	NP_001372134.1:n.2819-172_2819-170del
NM_001385206.1:c.2783-172_2783-170del	NP_001372135.1:n.2783-172_2783-170del
NM_001385207.1:c.2891-172_2891-170del	NP_001372136.1:n.2891-172_2891-170del