Canonical Allele Identifier: CA631725040

Gene: TYK2

Linked Data

• gnomAD v2: 19-10463112-T-TGG
• MyVariant Identifiers: chr19:g.10463112_10463113insGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352442_10352443dup , CM000681.2:g.10352442_10352443dup	GRCh38
NC_000019.9:g.10463118_10463119dup , CM000681.1:g.10463118_10463119dup	GRCh37
NC_000019.8:g.10324118_10324119dup	NCBI36
NG_007872.1:g.33135_33136dup , LRG_121:g.33135_33136dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000524470.2:c.*1663_*1664dup	ENSP00000514307.1:n.*1663_*1664dup
ENST00000525976.6:c.3314_3315dup	ENSP00000434831.2:p.Thr1106ProfsTer7
ENST00000527481.3:c.*84_*85dup	ENSP00000466340.2:n.*84_*85dup
ENST00000529370.6:n.4690_4691dup
ENST00000529739.2:n.4123_4124dup
ENST00000530829.2:c.*2865_*2866dup	ENSP00000436826.2:n.*2865_*2866dup
ENST00000531836.6:c.3314_3315dup	ENSP00000436175.2:p.Thr1106ProfsTer8
ENST00000533334.2:c.*1242+488_*1242+489dup	ENSP00000432320.2:n.*1242+488_*1242+489du...
ENST00000534228.2:n.5054+488_5054+489dup
ENST00000699354.1:n.1416_1417dup
ENST00000699355.1:c.*2814_*2815dup	ENSP00000514328.1:n.*2814_*2815dup
ENST00000699356.1:n.4123_4124dup
ENST00000699357.1:n.5168_5169dup
ENST00000699358.1:c.3200+488_3200+489dup	ENSP00000514329.1:n.3200+488_3200+489dup
ENST00000699359.1:c.488_489dup
ENST00000699360.1:c.3272_3273dup	ENSP00000514331.1:p.Thr1092ProfsTer8
ENST00000699361.1:n.348_349dup
ENST00000699362.1:c.210_211dup	ENSP00000514332.1:n.210_211dup
ENST00000699363.1:c.210_211dup	ENSP00000514333.1:n.210_211dup
ENST00000699364.1:n.314_315dup
ENST00000699365.1:c.383_384dup	ENSP00000514334.1:p.Thr129ProfsTer8
ENST00000699366.1:n.111+1376_111+1377dup
ENST00000699367.1:n.112-1276_112-1275dup
ENST00000699368.1:c.801_802dup	ENSP00000514335.1:n.801_802dup
ENST00000525621.6:c.3314_3315dup MANE Select	ENSP00000431885.1:p.Thr1106ProfsTer8
ENST00000264818.10:c.3314_3315dup	ENSP00000264818.6:p.Thr1106ProfsTer8
ENST00000524462.5:c.2759_2760dup	ENSP00000433203.1:p.Thr921ProfsTer8
ENST00000525621.5:c.3314_3315dup	ENSP00000431885.1:p.Thr1106ProfsTer8
ENST00000525976.5:c.55_56dup
ENST00000527481.2:c.491_492dup
ENST00000529422.1:n.116+584_116+585dup
ENST00000529739.1:c.383_384dup	ENSP00000436155.1:p.Thr129ProfsTer?
ENST00000530220.1:n.331+488_331+489dup
ENST00000530560.5:c.338-1470_338-1469dup	ENSP00000465291.1:n.338-1470_338-1469dup
ENST00000592137.1:n.468_469dup
NM_003331.4:c.3314_3315dup , LRG_121t1:c.3314_3315dup	NP_003322.3:p.Thr1106ProfsTer8
XM_011528245.1:c.3314_3315dup	XP_011526547.1:p.Thr1106ProfsTer8
XM_011528246.1:c.3017_3018dup	XP_011526548.1:p.Thr1007ProfsTer8
XM_011528247.1:c.3017_3018dup	XP_011526549.1:p.Thr1007ProfsTer8
XM_011528248.1:c.3200+488_3200+489dup	XP_011526550.1:n.3200+488_3200+489dup
XM_011528249.1:c.1988_1989dup	XP_011526551.1:p.Thr664ProfsTer8
XM_011528251.1:c.1571_1572dup	XP_011526553.1:p.Thr525ProfsTer8
XM_011528246.3:c.3017_3018dup	XP_011526548.1:p.Thr1007ProfsTer8
XM_011528249.2:c.1988_1989dup	XP_011526551.1:p.Thr664ProfsTer8
XR_001753750.1:n.3357+488_3357+489dup
XR_001753751.1:n.3866_3867dup
XR_002958353.1:n.4792_4793dup
NM_003331.5:c.3314_3315dup MANE Select	NP_003322.3:p.Thr1106ProfsTer8
NM_001385197.1:c.3314_3315dup	NP_001372126.1:p.Thr1106ProfsTer7
NM_001385198.1:c.3168+520_3168+521dup	NP_001372127.1:n.3168+520_3168+521dup
NM_001385199.1:c.3128_3129dup	NP_001372128.1:p.Thr1044ProfsTer8
NM_001385200.1:c.3311_3312dup	NP_001372129.1:p.Thr1105ProfsTer8
NM_001385201.1:c.3116_3117dup	NP_001372130.1:p.Thr1040ProfsTer8
NM_001385202.1:c.3230_3231dup	NP_001372131.1:p.Thr1078ProfsTer8
NM_001385203.1:c.3395_3396dup	NP_001372132.1:p.Thr1133ProfsTer8
NM_001385204.1:c.3524_3525dup	NP_001372133.1:p.Thr1176ProfsTer8
NM_001385205.1:c.3224_3225dup	NP_001372134.1:p.Thr1076ProfsTer8
NM_001385206.1:c.3188_3189dup	NP_001372135.1:p.Thr1064ProfsTer8
NM_001385207.1:c.3296_3297dup	NP_001372136.1:p.Thr1100ProfsTer8