Canonical Allele Identifier: CA442580600

Gene: IRF2

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184418533T>C , CM000666.2:g.184418533T>C	GRCh38
NC_000004.11:g.185339687T>C , CM000666.1:g.185339687T>C	GRCh37
NC_000004.10:g.185576681T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502750.2:c.363A>G	ENSP00000423074.2:p.Lys121=
ENST00000504340.2:c.363A>G	ENSP00000512878.1:p.Lys121=
ENST00000505067.6:c.363A>G	ENSP00000421927.2:p.Lys121=
ENST00000510814.6:c.363A>G	ENSP00000424552.2:p.Lys121=
ENST00000696840.1:c.363A>G	ENSP00000512918.1:p.Lys121=
ENST00000696841.1:c.363A>G	ENSP00000512954.1:p.Lys121=
ENST00000696842.1:c.*151A>G	ENSP00000512919.1:n.*151A>G
ENST00000696843.1:c.363A>G	ENSP00000512920.1:p.Lys121=
ENST00000696844.1:c.363A>G	ENSP00000512921.1:p.Lys121=
ENST00000696845.1:c.363A>G	ENSP00000512922.1:p.Lys121=
ENST00000696846.1:c.363A>G	ENSP00000512923.1:p.Lys121=
ENST00000696848.1:c.363A>G	ENSP00000512924.1:p.Lys121=
ENST00000696849.1:c.363A>G	ENSP00000512925.1:p.Lys121=
ENST00000696850.1:c.363A>G	ENSP00000512926.1:p.Lys121=
ENST00000696851.1:c.363A>G	ENSP00000512927.1:p.Lys121=
ENST00000696852.1:c.*337A>G	ENSP00000512928.1:n.*337A>G
ENST00000696853.1:c.363A>G	ENSP00000512929.1:p.Lys121=
ENST00000393593.8:c.363A>G MANE Select	ENSP00000377218.3:p.Lys121=
ENST00000393593.7:c.363A>G	ENSP00000377218.3:p.Lys121=
ENST00000502750.1:c.99A>G	ENSP00000423074.1:p.Lys33=
ENST00000505067.5:c.58A>G
ENST00000506230.5:c.363A>G	ENSP00000422860.1:p.Lys121=
ENST00000507523.5:c.363A>G	ENSP00000427204.1:p.Lys121=
ENST00000509274.1:c.*235A>G	ENSP00000425037.1:n.*235A>G
ENST00000510814.5:c.363A>G	ENSP00000424552.1:p.Lys121=
ENST00000512020.5:n.539A>G
NM_002199.3:c.363A>G	NP_002190.2:p.Lys121=
XM_005262984.1:c.363A>G	XP_005263041.1:p.Lys121=
XM_011531928.1:c.363A>G	XP_011530230.1:p.Lys121=
XM_011531929.1:c.363A>G	XP_011530231.1:p.Lys121=
XM_024454034.1:c.363A>G	XP_024309802.1:p.Lys121=
XM_024454035.1:c.363A>G	XP_024309803.1:p.Lys121=
XM_024454036.1:c.363A>G	XP_024309804.1:p.Lys121=
XM_024454037.1:c.363A>G	XP_024309805.1:p.Lys121=
XM_024454038.1:c.363A>G	XP_024309806.1:p.Lys121=
XM_024454039.1:c.363A>G	XP_024309807.1:p.Lys121=
NM_002199.4:c.363A>G MANE Select	NP_002190.2:p.Lys121=