Canonical Allele Identifier: CA993465941

Gene: TYK2

Linked Data

• dbSNP Id: rs2042302713
• gnomAD v3: 19-10379769-C-G
• gnomAD v4: 19-10379769-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10379769C>G , CM000681.2:g.10379769C>G	GRCh38
NC_000019.9:g.10490445C>G , CM000681.1:g.10490445C>G	GRCh37
NC_000019.8:g.10351445C>G	NCBI36
NG_007872.1:g.5804G>C , LRG_121:g.5804G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.-175G>C	ENSP00000514307.1:n.-175G>C
ENST00000525976.6:c.-175G>C	ENSP00000434831.2:n.-175G>C
ENST00000527481.3:c.-175G>C	ENSP00000466340.2:n.-175G>C
ENST00000529370.6:n.157G>C
ENST00000529739.2:n.240G>C
ENST00000530829.2:c.-175G>C	ENSP00000436826.2:n.-175G>C
ENST00000531836.6:c.-95-80G>C	ENSP00000436175.2:n.-95-80G>C
ENST00000533334.2:c.-175G>C	ENSP00000432320.2:n.-175G>C
ENST00000534228.2:n.240G>C
ENST00000699355.1:c.-175G>C	ENSP00000514328.1:n.-175G>C
ENST00000699356.1:n.240G>C
ENST00000699357.1:n.240G>C
ENST00000699358.1:c.-175G>C	ENSP00000514329.1:n.-175G>C
ENST00000699360.1:c.-175G>C	ENSP00000514331.1:n.-175G>C
ENST00000699369.1:n.169G>C
ENST00000699370.1:n.191G>C
ENST00000699371.1:c.-175G>C	ENSP00000514336.1:n.-175G>C
ENST00000525621.6:c.-175G>C MANE Select	ENSP00000431885.1:n.-175G>C
ENST00000524462.5:c.-91+741G>C	ENSP00000433203.1:n.-91+741G>C
ENST00000525621.5:c.-175G>C	ENSP00000431885.1:n.-175G>C
ENST00000529370.5:c.-175G>C	ENSP00000432728.1:n.-175G>C
ENST00000530829.1:c.-175G>C	ENSP00000436826.1:n.-175G>C
ENST00000531836.5:c.-95-80G>C	ENSP00000436175.1:n.-95-80G>C
NM_003331.4:c.-175G>C , LRG_121t1:c.-175G>C	NP_003322.3:n.-175G>C
XM_011528245.1:c.-95-80G>C	XP_011526547.1:n.-95-80G>C
NM_003331.5:c.-175G>C MANE Select	NP_003322.3:n.-175G>C
NM_001385197.1:c.-175G>C	NP_001372126.1:n.-175G>C
NM_001385198.1:c.-175G>C	NP_001372127.1:n.-175G>C
NM_001385199.1:c.-95-80G>C	NP_001372128.1:n.-95-80G>C
NM_001385200.1:c.-175G>C	NP_001372129.1:n.-175G>C
NM_001385201.1:c.-175G>C	NP_001372130.1:n.-175G>C
NM_001385202.1:c.-175G>C	NP_001372131.1:n.-175G>C
NM_001385203.1:c.-175G>C	NP_001372132.1:n.-175G>C
NM_001385204.1:c.-175G>C	NP_001372133.1:n.-175G>C
NM_001385205.1:c.-175G>C	NP_001372134.1:n.-175G>C
NM_001385206.1:c.-175G>C	NP_001372135.1:n.-175G>C
NM_001385207.1:c.-175G>C	NP_001372136.1:n.-175G>C