Canonical Allele Identifier: CA305193085

Gene: TYK2

Linked Data

• ClinVar Variation Id: 1216086
• ClinVar RCV Id: RCV001593749
• dbSNP Id: rs12720324
• gnomAD v2: 19-10463373-TGCTCATTGGCTAGGCC-T
• gnomAD v3: 19-10352697-TGCTCATTGGCTAGGCC-T
• gnomAD v4: 19-10352697-TGCTCATTGGCTAGGCC-T
• MyVariant Identifiers: chr19:g.10463374_10463389del (hg19) ; chr19:g.10352698_10352713del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352715_10352730del , CM000681.2:g.10352715_10352730del	GRCh38
NC_000019.9:g.10463391_10463406del , CM000681.1:g.10463391_10463406del	GRCh37
NC_000019.8:g.10324391_10324406del	NCBI36
NG_007872.1:g.32860_32875del , LRG_121:g.32860_32875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1550-162_*1550-147del	ENSP00000514307.1:n.*1550-162_*1550-147del
ENST00000525976.6:c.3201-162_3201-147del	ENSP00000434831.2:n.3201-162_3201-147del
ENST00000527481.3:c.3082-162_3082-147del	ENSP00000466340.2:n.3082-162_3082-147del
ENST00000529370.6:n.4577-162_4577-147del
ENST00000529739.2:n.4010-162_4010-147del
ENST00000530829.2:c.*2752-162_*2752-147del	ENSP00000436826.2:n.*2752-162_*2752-147del
ENST00000531836.6:c.3201-162_3201-147del	ENSP00000436175.2:n.3201-162_3201-147del
ENST00000533334.2:c.*1242+213_*1242+228del	ENSP00000432320.2:n.*1242+213_*1242+228del
ENST00000534228.2:n.5054+213_5054+228del
ENST00000699354.1:n.1303-162_1303-147del
ENST00000699355.1:c.*2701-162_*2701-147del	ENSP00000514328.1:n.*2701-162_*2701-147del
ENST00000699356.1:n.4010-162_4010-147del
ENST00000699357.1:n.5055-162_5055-147del
ENST00000699358.1:c.3200+213_3200+228del	ENSP00000514329.1:n.3200+213_3200+228del
ENST00000699359.1:c.375-162_375-147del
ENST00000699360.1:c.3159-162_3159-147del	ENSP00000514331.1:n.3159-162_3159-147del
ENST00000699361.1:n.73_88del
ENST00000699362.1:c.97-162_97-147del	ENSP00000514332.1:n.97-162_97-147del
ENST00000699363.1:c.97-162_97-147del	ENSP00000514333.1:n.97-162_97-147del
ENST00000699364.1:n.201-162_201-147del
ENST00000699365.1:c.270-162_270-147del	ENSP00000514334.1:n.270-162_270-147del
ENST00000699366.1:n.111+1101_111+1116del
ENST00000699367.1:n.111+1101_111+1116del
ENST00000699368.1:c.688-162_688-147del	ENSP00000514335.1:n.688-162_688-147del
ENST00000525621.6:c.3201-162_3201-147del MANE Select	ENSP00000431885.1:n.3201-162_3201-147del
ENST00000264818.10:c.3201-162_3201-147del	ENSP00000264818.6:n.3201-162_3201-147del
ENST00000524462.5:c.2646-162_2646-147del	ENSP00000433203.1:n.2646-162_2646-147del
ENST00000525621.5:c.3201-162_3201-147del	ENSP00000431885.1:n.3201-162_3201-147del
ENST00000527481.2:c.378-162_378-147del
ENST00000529422.1:n.116+309_116+324del
ENST00000529739.1:c.270-162_270-147del	ENSP00000436155.1:n.270-162_270-147del
ENST00000530220.1:n.331+213_331+228del
ENST00000530560.5:c.337+1329_337+1344del	ENSP00000465291.1:n.337+1329_337+1344del
ENST00000592137.1:n.355-162_355-147del
NM_003331.4:c.3201-162_3201-147del , LRG_121t1:c.3201-162_3201-147del	NP_003322.3:n.3201-162_3201-147del
XM_011528245.1:c.3201-162_3201-147del	XP_011526547.1:n.3201-162_3201-147del
XM_011528246.1:c.2904-162_2904-147del	XP_011526548.1:n.2904-162_2904-147del
XM_011528247.1:c.2904-162_2904-147del	XP_011526549.1:n.2904-162_2904-147del
XM_011528248.1:c.3200+213_3200+228del	XP_011526550.1:n.3200+213_3200+228del
XM_011528249.1:c.1875-162_1875-147del	XP_011526551.1:n.1875-162_1875-147del
XM_011528251.1:c.1458-162_1458-147del	XP_011526553.1:n.1458-162_1458-147del
XM_011528246.3:c.2904-162_2904-147del	XP_011526548.1:n.2904-162_2904-147del
XM_011528249.2:c.1875-162_1875-147del	XP_011526551.1:n.1875-162_1875-147del
XR_001753750.1:n.3357+213_3357+228del
XR_001753751.1:n.3753-162_3753-147del
XR_002958353.1:n.4679-162_4679-147del
NM_003331.5:c.3201-162_3201-147del MANE Select	NP_003322.3:n.3201-162_3201-147del
NM_001385197.1:c.3201-162_3201-147del	NP_001372126.1:n.3201-162_3201-147del
NM_001385198.1:c.3168+245_3168+260del	NP_001372127.1:n.3168+245_3168+260del
NM_001385199.1:c.3015-162_3015-147del	NP_001372128.1:n.3015-162_3015-147del
NM_001385200.1:c.3198-162_3198-147del	NP_001372129.1:n.3198-162_3198-147del
NM_001385201.1:c.3003-162_3003-147del	NP_001372130.1:n.3003-162_3003-147del
NM_001385202.1:c.3117-162_3117-147del	NP_001372131.1:n.3117-162_3117-147del
NM_001385203.1:c.3282-162_3282-147del	NP_001372132.1:n.3282-162_3282-147del
NM_001385204.1:c.3411-162_3411-147del	NP_001372133.1:n.3411-162_3411-147del
NM_001385205.1:c.3111-162_3111-147del	NP_001372134.1:n.3111-162_3111-147del
NM_001385206.1:c.3075-162_3075-147del	NP_001372135.1:n.3075-162_3075-147del
NM_001385207.1:c.3183-162_3183-147del	NP_001372136.1:n.3183-162_3183-147del