Canonical Allele Identifier: CA1916469

Gene: NR4A2

Linked Data

• ClinVar Variation Id: 985332
• ClinVar RCV Id: RCV001266179 ; RCV001724280 ; RCV002275338 ; RCV002260695
• dbSNP Id: rs774629025
• ExAC: 2:157186373 T / TG
• gnomAD v2: 2-157186373-T-TG
• gnomAD v4: 2-156329861-T-TG
• COSMIC: COSM112106 ; COSM4337069
• MyVariant Identifiers: chr2:g.157186373_157186374insG (hg19) ; chr2:g.156329861_156329862insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.156329868dup , CM000664.2:g.156329868dup	GRCh38
NC_000002.11:g.157186380dup , CM000664.1:g.157186380dup	GRCh37
NC_000002.10:g.156894626dup	NCBI36
NG_011821.1:g.7914dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421709.2:c.136dup	ENSP00000388120.2:p.Gln46ProfsTer3
ENST00000700228.1:c.196dup	ENSP00000514865.1:p.Gln66ProfsTer3
ENST00000700231.1:c.325dup	ENSP00000514868.1:p.Gln109ProfsTer3
ENST00000339562.9:c.325dup MANE Select	ENSP00000344479.4:p.Gln109ProfsTer3
ENST00000675870.1:c.136dup	ENSP00000502739.1:p.Gln46ProfsTer3
ENST00000339562.8:c.325dup	ENSP00000344479.4:p.Gln109ProfsTer3
ENST00000406048.2:c.208+52dup
ENST00000409108.6:c.325dup	ENSP00000386993.2:p.Gln109ProfsTer3
ENST00000409572.5:c.325dup	ENSP00000386747.1:p.Gln109ProfsTer3
ENST00000417764.5:c.136dup	ENSP00000415632.1:p.Gln46ProfsTer3
ENST00000417972.5:c.136dup	ENSP00000394671.1:p.Gln46ProfsTer3
ENST00000421709.1:c.136dup	ENSP00000388120.1:p.Gln46ProfsTer3
ENST00000424077.1:c.325dup	ENSP00000406808.1:p.Gln109ProfsTer3
ENST00000426264.5:c.136dup	ENSP00000389986.1:p.Gln46ProfsTer3
ENST00000429376.5:c.136dup	ENSP00000410952.1:p.Gln46ProfsTer3
NM_006186.3:c.325dup	NP_006177.1:p.Gln109ProfsTer3
XM_005246621.2:c.358dup	XP_005246678.1:p.Gln120ProfsTer3
XM_005246622.2:c.136dup	XP_005246679.1:p.Gln46ProfsTer3
XM_005246623.1:c.136dup	XP_005246680.1:p.Gln46ProfsTer3
XM_006712553.2:c.358dup	XP_006712616.1:p.Gln120ProfsTer3
XM_011511246.1:c.358dup	XP_011509548.1:p.Gln120ProfsTer3
XR_427087.2:n.2531dup
NM_173173.2:c.136dup	NP_775265.1:p.Gln46ProfsTer3
XM_005246621.4:c.358dup	XP_005246678.1:p.Gln120ProfsTer3
XM_006712553.4:c.358dup	XP_006712616.1:p.Gln120ProfsTer3
XM_011511246.2:c.358dup	XP_011509548.1:p.Gln120ProfsTer3
XM_017004219.2:c.325dup	XP_016859708.1:p.Gln109ProfsTer3
XM_017004220.2:c.325dup	XP_016859709.1:p.Gln109ProfsTer3
XR_001738751.2:n.693dup
XR_001738752.2:n.515dup
XR_427087.4:n.572dup
NM_006186.4:c.325dup MANE Select	NP_006177.1:p.Gln109ProfsTer3
NM_173173.3:c.136dup	NP_775265.1:p.Gln46ProfsTer3