Canonical Allele Identifier: CA117573

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 5530
• ClinVar RCV Id: RCV000005867 ; RCV000261496 ; RCV000668029 ; RCV001045323 ; RCV001075864 ; RCV001449793
• dbSNP Id: rs104894493
• ExAC: 15:72103931 G / A
• gnomAD v2: 15-72103931-G-A
• gnomAD v3: 15-71811591-G-A
• gnomAD v4: 15-71811591-G-A
• MyVariant Identifiers: chr15:g.72103931G>A (hg19) ; chr15:g.71811591G>A (hg38)
• PubMed: PMID:10655056 ; PMID:17564971 ; PMID:19006237 ; PMID:19823680 ; PMID:19898638 ; PMID:25999674

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811591G>A , CM000677.2:g.71811591G>A	GRCh38
NC_000015.9:g.72103931G>A , CM000677.1:g.72103931G>A	GRCh37
NC_000015.8:g.69890985G>A	NCBI36
NG_009113.2:g.6037G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.227G>A MANE Select	ENSP00000482504.1:p.Arg76Gln
ENST00000617575.4:c.227G>A	ENSP00000482504.1:p.Arg76Gln
ENST00000621098.1:c.227G>A	ENSP00000479962.1:p.Arg76Gln
ENST00000621736.4:c.-38G>A	ENSP00000479254.1:n.-38G>A
NM_014249.3:c.227G>A	NP_055064.1:p.Arg76Gln
NM_016346.3:c.227G>A	NP_057430.1:p.Arg76Gln
XM_011521146.1:c.-38G>A	XP_011519448.1:n.-38G>A
NM_014249.4:c.227G>A MANE Select	NP_055064.1:p.Arg76Gln
NM_016346.4:c.227G>A	NP_057430.1:p.Arg76Gln