Canonical Allele Identifier: CA915942792

Gene: NR4A2

Linked Data

• ClinVar Variation Id: 808830
• ClinVar RCV Id: RCV000997240
• dbSNP Id: rs1573811478

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.156326193_156326196dup , CM000664.2:g.156326193_156326196dup	GRCh38
NC_000002.11:g.157182705_157182708dup , CM000664.1:g.157182705_157182708dup	GRCh37
NC_000002.10:g.156890951_156890954dup	NCBI36
NG_011821.1:g.11580_11583dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700228.1:c.1290_1293dup	ENSP00000514865.1:p.Ile432ArgfsTer?
ENST00000700229.1:c.458_461dup
ENST00000700230.1:c.1034_1037dup	ENSP00000514867.1:n.1034_1037dup
ENST00000700231.1:c.1419_1422dup	ENSP00000514868.1:p.Ile475ArgfsTer?
ENST00000339562.9:c.1494_1497dup MANE Select	ENSP00000344479.4:p.Ile500ArgfsTer?
ENST00000675870.1:c.*5_*8dup	ENSP00000502739.1:n.*5_*8dup
ENST00000339562.8:c.1494_1497dup	ENSP00000344479.4:p.Ile500ArgfsTer?
ENST00000409108.6:c.1390_1393dup	ENSP00000386993.2:p.His465ProfsTer?
ENST00000409572.5:c.1494_1497dup	ENSP00000386747.1:p.Ile500ArgfsTer?
ENST00000417764.5:c.*5_*8dup	ENSP00000415632.1:n.*5_*8dup
ENST00000417972.5:c.*5_*8dup	ENSP00000394671.1:n.*5_*8dup
ENST00000426264.5:c.1305_1308dup	ENSP00000389986.1:p.Ile437ArgfsTer?
ENST00000429376.5:c.1201_1204dup	ENSP00000410952.1:p.His402ProfsTer?
NM_006186.3:c.1494_1497dup	NP_006177.1:p.Ile500ArgfsTer?
XM_005246621.2:c.1527_1530dup	XP_005246678.1:p.Ile511ArgfsTer?
XM_005246622.2:c.1305_1308dup	XP_005246679.1:p.Ile437ArgfsTer?
XM_005246623.1:c.1305_1308dup	XP_005246680.1:p.Ile437ArgfsTer?
XM_006712553.2:c.1452_1455dup	XP_006712616.1:p.Ile486ArgfsTer?
XM_011511246.1:c.1423_1426dup	XP_011509548.1:p.His476ProfsTer?
XR_427087.2:n.3579_3582dup
NM_173173.2:c.1305_1308dup	NP_775265.1:p.Ile437ArgfsTer?
XM_005246621.4:c.1527_1530dup	XP_005246678.1:p.Ile511ArgfsTer?
XM_006712553.4:c.1452_1455dup	XP_006712616.1:p.Ile486ArgfsTer?
XM_011511246.2:c.1423_1426dup	XP_011509548.1:p.His476ProfsTer?
XM_017004219.2:c.1494_1497dup	XP_016859708.1:p.Ile500ArgfsTer?
XM_017004220.2:c.1419_1422dup	XP_016859709.1:p.Ile475ArgfsTer?
XR_001738751.2:n.1741_1744dup
XR_001738752.2:n.1563_1566dup
XR_427087.4:n.1620_1623dup
NM_006186.4:c.1494_1497dup MANE Select	NP_006177.1:p.Ile500ArgfsTer?
NM_173173.3:c.1305_1308dup	NP_775265.1:p.Ile437ArgfsTer?