Canonical Allele Identifier: CA235931

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 191059
• ClinVar RCV Id: RCV000171236 ; RCV000185571 ; RCV000261643 ; RCV000505031 ; RCV000507553 ; RCV000626919 ; RCV000678584 ; RCV000668212 ; RCV000787627 ; RCV001275369 ; RCV002243841 ; RCV002515235 ; RCV000005864
• dbSNP Id: rs2723341
• ExAC: 15:72103821 A / C
• gnomAD v2: 15-72103821-A-C
• gnomAD v3: 15-71811481-A-C
• gnomAD v4: 15-71811481-A-C
• MyVariant Identifiers: chr15:g.72103821A>C (hg19) ; chr15:g.71811481A>C (hg38)
• PubMed: PMID:10655056 ; PMID:18294254 ; PMID:19273793 ; PMID:19718767 ; PMID:21217109 ; PMID:23591405 ; PMID:23989059 ; PMID:25097241 ; PMID:25703721 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811481A>C , CM000677.2:g.71811481A>C	GRCh38
NC_000015.9:g.72103821A>C , CM000677.1:g.72103821A>C	GRCh37
NC_000015.8:g.69890875A>C	NCBI36
NG_009113.2:g.5927A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-2A>C MANE Select	ENSP00000482504.1:n.119-2A>C
ENST00000617575.4:c.119-2A>C	ENSP00000482504.1:n.119-2A>C
ENST00000621098.1:c.119-2A>C	ENSP00000479962.1:n.119-2A>C
ENST00000621736.4:c.-146-2A>C	ENSP00000479254.1:n.-146-2A>C
NM_014249.3:c.119-2A>C	NP_055064.1:n.119-2A>C
NM_016346.3:c.119-2A>C	NP_057430.1:n.119-2A>C
XM_011521146.1:c.-146-2A>C	XP_011519448.1:n.-146-2A>C
NM_014249.4:c.119-2A>C MANE Select	NP_055064.1:n.119-2A>C
NM_016346.4:c.119-2A>C	NP_057430.1:n.119-2A>C