Canonical Allele Identifier: CA273766

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 183143
• ClinVar RCV Id: RCV000162027 ; RCV001449814
• dbSNP Id: rs730882149
• MyVariant Identifiers: chr15:g.72103847_72103848delinsAGTGTGCCTCCAGTGCCTCGCTCCA (hg19) ; chr15:g.71811507_71811508delinsAGTGTGCCTCCAGTGCCTCGCTCCA (hg38)
• PubMed: PMID:22605927

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811507_71811508delinsAGTGTGCCTCCAGTGCCTCGCTCCA , CM000677.2:g.71811507_71811508delinsAGTGTGCCTCCAGTGCCTCGCTCCA	GRCh38
NC_000015.9:g.72103847_72103848delinsAGTGTGCCTCCAGTGCCTCGCTCCA , CM000677.1:g.72103847_72103848delinsAGTGTGCCTCCAGTGCCTCGCTCCA	GRCh37
NC_000015.8:g.69890901_69890902delinsAGTGTGCCTCCAGTGCCTCGCTCCA	NCBI36
NG_009113.2:g.5953_5954delinsAGTGTGCCTCCAGTGCCTCGCTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA MANE Select	ENSP00000482504.1:p.Arg48GlnfsTer?
ENST00000617575.4:c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA	ENSP00000482504.1:p.Arg48GlnfsTer?
ENST00000621098.1:c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA	ENSP00000479962.1:p.Arg48GlnfsTer?
ENST00000621736.4:c.-122_-121delinsAGTGTGCCTCCAGTGCCTCGCTCCA	ENSP00000479254.1:n.-122_-121delinsAGTGTGCCTCCAGTGCCTCGCTCCA
NM_014249.3:c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA	NP_055064.1:p.Arg48GlnfsTer?
NM_016346.3:c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA	NP_057430.1:p.Arg48GlnfsTer?
XM_011521146.1:c.-122_-121delinsAGTGTGCCTCCAGTGCCTCGCTCCA	XP_011519448.1:n.-122_-121delinsAGTGTGCCTCCAGTGCCTCGCTCCA
NM_014249.4:c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA MANE Select	NP_055064.1:p.Arg48GlnfsTer?
NM_016346.4:c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA	NP_057430.1:p.Arg48GlnfsTer?