Canonical Allele Identifier: CA993441453

Gene: TYK2

Linked Data

• dbSNP Id: rs2040873813
• gnomAD v3: 19-10352718-ATTGGCTAGGC-A
• gnomAD v4: 19-10352718-ATTGGCTAGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352719_10352728del , CM000681.2:g.10352719_10352728del	GRCh38
NC_000019.9:g.10463395_10463404del , CM000681.1:g.10463395_10463404del	GRCh37
NC_000019.8:g.10324395_10324404del	NCBI36
NG_007872.1:g.32845_32854del , LRG_121:g.32845_32854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1550-177_*1550-168del	ENSP00000514307.1:n.*1550-177_*1550-168del
ENST00000525976.6:c.3201-177_3201-168del	ENSP00000434831.2:n.3201-177_3201-168del
ENST00000527481.3:c.3082-177_3082-168del	ENSP00000466340.2:n.3082-177_3082-168del
ENST00000529370.6:n.4577-177_4577-168del
ENST00000529739.2:n.4010-177_4010-168del
ENST00000530829.2:c.*2752-177_*2752-168del	ENSP00000436826.2:n.*2752-177_*2752-168del
ENST00000531836.6:c.3201-177_3201-168del	ENSP00000436175.2:n.3201-177_3201-168del
ENST00000533334.2:c.*1242+198_*1242+207del	ENSP00000432320.2:n.*1242+198_*1242+207del
ENST00000534228.2:n.5054+198_5054+207del
ENST00000699354.1:n.1303-177_1303-168del
ENST00000699355.1:c.*2701-177_*2701-168del	ENSP00000514328.1:n.*2701-177_*2701-168del
ENST00000699356.1:n.4010-177_4010-168del
ENST00000699357.1:n.5055-177_5055-168del
ENST00000699358.1:c.3200+198_3200+207del	ENSP00000514329.1:n.3200+198_3200+207del
ENST00000699359.1:c.375-177_375-168del
ENST00000699360.1:c.3159-177_3159-168del	ENSP00000514331.1:n.3159-177_3159-168del
ENST00000699361.1:n.58_67del
ENST00000699362.1:c.97-177_97-168del	ENSP00000514332.1:n.97-177_97-168del
ENST00000699363.1:c.97-177_97-168del	ENSP00000514333.1:n.97-177_97-168del
ENST00000699364.1:n.201-177_201-168del
ENST00000699365.1:c.270-177_270-168del	ENSP00000514334.1:n.270-177_270-168del
ENST00000699366.1:n.111+1086_111+1095del
ENST00000699367.1:n.111+1086_111+1095del
ENST00000699368.1:c.688-177_688-168del	ENSP00000514335.1:n.688-177_688-168del
ENST00000525621.6:c.3201-177_3201-168del MANE Select	ENSP00000431885.1:n.3201-177_3201-168del
ENST00000264818.10:c.3201-177_3201-168del	ENSP00000264818.6:n.3201-177_3201-168del
ENST00000524462.5:c.2646-177_2646-168del	ENSP00000433203.1:n.2646-177_2646-168del
ENST00000525621.5:c.3201-177_3201-168del	ENSP00000431885.1:n.3201-177_3201-168del
ENST00000527481.2:c.378-177_378-168del
ENST00000529422.1:n.116+294_116+303del
ENST00000529739.1:c.270-177_270-168del	ENSP00000436155.1:n.270-177_270-168del
ENST00000530220.1:n.331+198_331+207del
ENST00000530560.5:c.337+1314_337+1323del	ENSP00000465291.1:n.337+1314_337+1323del
ENST00000592137.1:n.355-177_355-168del
NM_003331.4:c.3201-177_3201-168del , LRG_121t1:c.3201-177_3201-168del	NP_003322.3:n.3201-177_3201-168del
XM_011528245.1:c.3201-177_3201-168del	XP_011526547.1:n.3201-177_3201-168del
XM_011528246.1:c.2904-177_2904-168del	XP_011526548.1:n.2904-177_2904-168del
XM_011528247.1:c.2904-177_2904-168del	XP_011526549.1:n.2904-177_2904-168del
XM_011528248.1:c.3200+198_3200+207del	XP_011526550.1:n.3200+198_3200+207del
XM_011528249.1:c.1875-177_1875-168del	XP_011526551.1:n.1875-177_1875-168del
XM_011528251.1:c.1458-177_1458-168del	XP_011526553.1:n.1458-177_1458-168del
XM_011528246.3:c.2904-177_2904-168del	XP_011526548.1:n.2904-177_2904-168del
XM_011528249.2:c.1875-177_1875-168del	XP_011526551.1:n.1875-177_1875-168del
XR_001753750.1:n.3357+198_3357+207del
XR_001753751.1:n.3753-177_3753-168del
XR_002958353.1:n.4679-177_4679-168del
NM_003331.5:c.3201-177_3201-168del MANE Select	NP_003322.3:n.3201-177_3201-168del
NM_001385197.1:c.3201-177_3201-168del	NP_001372126.1:n.3201-177_3201-168del
NM_001385198.1:c.3168+230_3168+239del	NP_001372127.1:n.3168+230_3168+239del
NM_001385199.1:c.3015-177_3015-168del	NP_001372128.1:n.3015-177_3015-168del
NM_001385200.1:c.3198-177_3198-168del	NP_001372129.1:n.3198-177_3198-168del
NM_001385201.1:c.3003-177_3003-168del	NP_001372130.1:n.3003-177_3003-168del
NM_001385202.1:c.3117-177_3117-168del	NP_001372131.1:n.3117-177_3117-168del
NM_001385203.1:c.3282-177_3282-168del	NP_001372132.1:n.3282-177_3282-168del
NM_001385204.1:c.3411-177_3411-168del	NP_001372133.1:n.3411-177_3411-168del
NM_001385205.1:c.3111-177_3111-168del	NP_001372134.1:n.3111-177_3111-168del
NM_001385206.1:c.3075-177_3075-168del	NP_001372135.1:n.3075-177_3075-168del
NM_001385207.1:c.3183-177_3183-168del	NP_001372136.1:n.3183-177_3183-168del