Canonical Allele Identifier: CA117575

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 5532
• ClinVar RCV Id: RCV000005869 ; RCV000005870 ; RCV000171240 ; RCV000393548 ; RCV000668086 ; RCV000787633 ; RCV001074891 ; RCV001095701 ; RCV001257807 ; RCV001374877
• dbSNP Id: rs28937873
• ExAC: 15:72105913 G / A
• gnomAD v2: 15-72105913-G-A
• gnomAD v3: 15-71813573-G-A
• gnomAD v4: 15-71813573-G-A
• MyVariant Identifiers: chr15:g.72105913G>A (hg19) ; chr15:g.71813573G>A (hg38)
• PubMed: PMID:10655056 ; PMID:11071390 ; PMID:11773633 ; PMID:16024868 ; PMID:18294254 ; PMID:19006237 ; PMID:19823680 ; PMID:19898638 ; PMID:25097241 ; PMID:25703721

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71813573G>A , CM000677.2:g.71813573G>A	GRCh38
NC_000015.9:g.72105913G>A , CM000677.1:g.72105913G>A	GRCh37
NC_000015.8:g.69892967G>A	NCBI36
NG_009113.2:g.8019G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000617575.5:c.932G>A MANE Select	ENSP00000482504.1:p.Arg311Gln
ENST00000617575.4:c.932G>A	ENSP00000482504.1:p.Arg311Gln
ENST00000621098.1:c.932G>A	ENSP00000479962.1:p.Arg311Gln
ENST00000621736.4:c.668G>A	ENSP00000479254.1:p.Arg223Gln
NM_014249.3:c.932G>A	NP_055064.1:p.Arg311Gln
NM_016346.3:c.932G>A	NP_057430.1:p.Arg311Gln
XM_011521146.1:c.668G>A	XP_011519448.1:p.Arg223Gln
NM_014249.4:c.932G>A MANE Select	NP_055064.1:p.Arg311Gln
NM_016346.4:c.932G>A	NP_057430.1:p.Arg311Gln