Canonical Allele Identifier: CA7640401

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 438229
• ClinVar RCV Id: RCV000504973 ; RCV000809974 ; RCV001376214 ; RCV001449815 ; RCV001724033 ; RCV003464084
• dbSNP Id: rs377257254
• ExAC: 15:72105748 C / A
• gnomAD v2: 15-72105748-C-A
• gnomAD v3: 15-71813408-C-A
• gnomAD v4: 15-71813408-C-A
• MyVariant Identifiers: chr15:g.72105748C>A (hg19) ; chr15:g.71813408C>A (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71813408C>A , CM000677.2:g.71813408C>A	GRCh38
NC_000015.9:g.72105748C>A , CM000677.1:g.72105748C>A	GRCh37
NC_000015.8:g.69892802C>A	NCBI36
NG_009113.2:g.7854C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.767C>A MANE Select	ENSP00000482504.1:p.Ala256Glu
ENST00000617575.4:c.767C>A	ENSP00000482504.1:p.Ala256Glu
ENST00000621098.1:c.767C>A	ENSP00000479962.1:p.Ala256Glu
ENST00000621736.4:c.503C>A	ENSP00000479254.1:p.Ala168Glu
NM_014249.3:c.767C>A	NP_055064.1:p.Ala256Glu
NM_016346.3:c.767C>A	NP_057430.1:p.Ala256Glu
XM_011521146.1:c.503C>A	XP_011519448.1:p.Ala168Glu
NM_014249.4:c.767C>A MANE Select	NP_055064.1:p.Ala256Glu
NM_016346.4:c.767C>A	NP_057430.1:p.Ala256Glu