Canonical Allele Identifier: CA1916160

Gene: NR4A2

Linked Data

• dbSNP Id: rs138383399
• ExAC: 2:157182313 G / A
• gnomAD v2: 2-157182313-G-A
• gnomAD v4: 2-156325801-G-A
• MyVariant Identifiers: chr2:g.157182313G>A (hg19) ; chr2:g.156325801G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.156325801G>A , CM000664.2:g.156325801G>A	GRCh38
NC_000002.11:g.157182313G>A , CM000664.1:g.157182313G>A	GRCh37
NC_000002.10:g.156890559G>A	NCBI36
NG_011821.1:g.11975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700228.1:c.1536C>T	ENSP00000514865.1:p.Asp512=
ENST00000700229.1:c.704C>T
ENST00000700230.1:c.1280C>T	ENSP00000514867.1:n.1280C>T
ENST00000700231.1:c.1665C>T	ENSP00000514868.1:p.Asp555=
ENST00000339562.9:c.1740C>T MANE Select	ENSP00000344479.4:p.Asp580=
ENST00000675870.1:c.*251C>T	ENSP00000502739.1:n.*251C>T
ENST00000339562.8:c.1740C>T	ENSP00000344479.4:p.Asp580=
ENST00000409108.6:c.1636C>T	ENSP00000386993.2:p.Leu546Phe
ENST00000409572.5:c.1740C>T	ENSP00000386747.1:p.Asp580=
ENST00000417764.5:c.*251C>T	ENSP00000415632.1:n.*251C>T
ENST00000417972.5:c.*251C>T	ENSP00000394671.1:n.*251C>T
ENST00000426264.5:c.1551C>T	ENSP00000389986.1:p.Asp517=
ENST00000429376.5:c.1447C>T	ENSP00000410952.1:p.Leu483Phe
NM_006186.3:c.1740C>T	NP_006177.1:p.Asp580=
XM_005246621.2:c.1773C>T	XP_005246678.1:p.Asp591=
XM_005246622.2:c.1551C>T	XP_005246679.1:p.Asp517=
XM_005246623.1:c.1551C>T	XP_005246680.1:p.Asp517=
XM_006712553.2:c.1698C>T	XP_006712616.1:p.Asp566=
XM_011511246.1:c.1669C>T	XP_011509548.1:p.Leu557Phe
NM_173173.2:c.1551C>T	NP_775265.1:p.Asp517=
XM_005246621.4:c.1773C>T	XP_005246678.1:p.Asp591=
XM_006712553.4:c.1698C>T	XP_006712616.1:p.Asp566=
XM_011511246.2:c.1669C>T	XP_011509548.1:p.Leu557Phe
XM_017004219.2:c.1740C>T	XP_016859708.1:p.Asp580=
XM_017004220.2:c.1665C>T	XP_016859709.1:p.Asp555=
XR_001738751.2:n.1987C>T
XR_001738752.2:n.1809C>T
XR_427087.4:n.1866C>T
NM_006186.4:c.1740C>T MANE Select	NP_006177.1:p.Asp580=
NM_173173.3:c.1551C>T	NP_775265.1:p.Asp517=