Canonical Allele Identifier: CA2577126817

Gene: NR4A2

Linked Data

• ClinVar Variation Id: 1712771
• ClinVar RCV Id: RCV002300943

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.156325755_156325756del , CM000664.2:g.156325755_156325756del	GRCh38
NC_000002.11:g.157182267_157182268del , CM000664.1:g.157182267_157182268del	GRCh37
NC_000002.10:g.156890513_156890514del	NCBI36
NG_011821.1:g.12021_12022del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700228.1:c.1582_1583del	ENSP00000514865.1:p.Leu528ThrfsTer?
ENST00000700229.1:c.750_751del
ENST00000700230.1:c.1326_1327del	ENSP00000514867.1:n.1326_1327del
ENST00000700231.1:c.1711_1712del	ENSP00000514868.1:p.Leu571ThrfsTer?
ENST00000339562.9:c.1786_1787del MANE Select	ENSP00000344479.4:p.Leu596ThrfsTer?
ENST00000675870.1:c.*297_*298del	ENSP00000502739.1:n.*297_*298del
ENST00000339562.8:c.1786_1787del	ENSP00000344479.4:p.Leu596ThrfsTer?
ENST00000409108.6:c.*20_*21del	ENSP00000386993.2:n.*20_*21del
ENST00000409572.5:c.1786_1787del	ENSP00000386747.1:p.Leu596ThrfsTer?
ENST00000417764.5:c.*297_*298del	ENSP00000415632.1:n.*297_*298del
ENST00000417972.5:c.*297_*298del	ENSP00000394671.1:n.*297_*298del
ENST00000426264.5:c.1597_1598del	ENSP00000389986.1:p.Leu533ThrfsTer?
ENST00000429376.5:c.*20_*21del	ENSP00000410952.1:n.*20_*21del
NM_006186.3:c.1786_1787del	NP_006177.1:p.Leu596ThrfsTer?
XM_005246621.2:c.1819_1820del	XP_005246678.1:p.Leu607ThrfsTer?
XM_005246622.2:c.1597_1598del	XP_005246679.1:p.Leu533ThrfsTer?
XM_005246623.1:c.1597_1598del	XP_005246680.1:p.Leu533ThrfsTer?
XM_006712553.2:c.1744_1745del	XP_006712616.1:p.Leu582ThrfsTer?
XM_011511246.1:c.*20_*21del	XP_011509548.1:n.*20_*21del
NM_173173.2:c.1597_1598del	NP_775265.1:p.Leu533ThrfsTer?
XM_005246621.4:c.1819_1820del	XP_005246678.1:p.Leu607ThrfsTer?
XM_006712553.4:c.1744_1745del	XP_006712616.1:p.Leu582ThrfsTer?
XM_011511246.2:c.*20_*21del	XP_011509548.1:n.*20_*21del
XM_017004219.2:c.1786_1787del	XP_016859708.1:p.Leu596ThrfsTer?
XM_017004220.2:c.1711_1712del	XP_016859709.1:p.Leu571ThrfsTer?
XR_001738751.2:n.2033_2034del
XR_001738752.2:n.1855_1856del
XR_427087.4:n.1912_1913del
NM_006186.4:c.1786_1787del MANE Select	NP_006177.1:p.Leu596ThrfsTer?
NM_173173.3:c.1597_1598del	NP_775265.1:p.Leu533ThrfsTer?