Canonical Allele Identifier: CA1916390

Gene: NR4A2

Linked Data

• ClinVar Variation Id: 331661
• ClinVar RCV Id: RCV000303009 ; RCV000882820 ; RCV003922420
• dbSNP Id: rs16840266
• ExAC: 2:157185967 G / T
• gnomAD v2: 2-157185967-G-T
• gnomAD v3: 2-156329455-G-T
• gnomAD v4: 2-156329455-G-T
• MyVariant Identifiers: chr2:g.157185967G>T (hg19) ; chr2:g.156329455G>T (hg38)
• PubMed: PMID:23066323

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.156329455G>T , CM000664.2:g.156329455G>T	GRCh38
NC_000002.11:g.157185967G>T , CM000664.1:g.157185967G>T	GRCh37
NC_000002.10:g.156894213G>T	NCBI36
NG_011821.1:g.8321C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700228.1:c.603C>A	ENSP00000514865.1:p.Leu201=
ENST00000700230.1:c.165C>A	ENSP00000514867.1:p.Leu55=
ENST00000700231.1:c.732C>A	ENSP00000514868.1:p.Leu244=
ENST00000339562.9:c.732C>A MANE Select	ENSP00000344479.4:p.Leu244=
ENST00000675870.1:c.543C>A	ENSP00000502739.1:p.Leu181=
ENST00000339562.8:c.732C>A	ENSP00000344479.4:p.Leu244=
ENST00000406048.2:c.208+459C>A
ENST00000409108.6:c.732C>A	ENSP00000386993.2:p.Leu244=
ENST00000409572.5:c.732C>A	ENSP00000386747.1:p.Leu244=
ENST00000417764.5:c.543C>A	ENSP00000415632.1:p.Leu181=
ENST00000417972.5:c.543C>A	ENSP00000394671.1:p.Leu181=
ENST00000424077.1:c.732C>A	ENSP00000406808.1:p.Leu244=
ENST00000426264.5:c.543C>A	ENSP00000389986.1:p.Leu181=
ENST00000429376.5:c.543C>A	ENSP00000410952.1:p.Leu181=
NM_006186.3:c.732C>A	NP_006177.1:p.Leu244=
XM_005246621.2:c.765C>A	XP_005246678.1:p.Leu255=
XM_005246622.2:c.543C>A	XP_005246679.1:p.Leu181=
XM_005246623.1:c.543C>A	XP_005246680.1:p.Leu181=
XM_006712553.2:c.765C>A	XP_006712616.1:p.Leu255=
XM_011511246.1:c.765C>A	XP_011509548.1:p.Leu255=
XR_427087.2:n.2938C>A
NM_173173.2:c.543C>A	NP_775265.1:p.Leu181=
XM_005246621.4:c.765C>A	XP_005246678.1:p.Leu255=
XM_006712553.4:c.765C>A	XP_006712616.1:p.Leu255=
XM_011511246.2:c.765C>A	XP_011509548.1:p.Leu255=
XM_017004219.2:c.732C>A	XP_016859708.1:p.Leu244=
XM_017004220.2:c.732C>A	XP_016859709.1:p.Leu244=
XR_001738751.2:n.1100C>A
XR_001738752.2:n.922C>A
XR_427087.4:n.979C>A
NM_006186.4:c.732C>A MANE Select	NP_006177.1:p.Leu244=
NM_173173.3:c.543C>A	NP_775265.1:p.Leu181=