Canonical Allele Identifier: CA7640282

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 438228
• ClinVar RCV Id: RCV000504861 ; RCV001003093 ; RCV001039719 ; RCV002226466 ; RCV003464083
• dbSNP Id: rs766096417
• ExAC: 15:72104171 G / A
• gnomAD v2: 15-72104171-G-A
• gnomAD v3: 15-71811831-G-A
• gnomAD v4: 15-71811831-G-A
• MyVariant Identifiers: chr15:g.72104171G>A (hg19) ; chr15:g.71811831G>A (hg38)
• PubMed: PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811831G>A , CM000677.2:g.71811831G>A	GRCh38
NC_000015.9:g.72104171G>A , CM000677.1:g.72104171G>A	GRCh37
NC_000015.8:g.69891225G>A	NCBI36
NG_009113.2:g.6277G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.311G>A MANE Select	ENSP00000482504.1:p.Arg104Gln
ENST00000617575.4:c.311G>A	ENSP00000482504.1:p.Arg104Gln
ENST00000621098.1:c.311G>A	ENSP00000479962.1:p.Arg104Gln
ENST00000621736.4:c.47G>A	ENSP00000479254.1:p.Arg16Gln
NM_014249.3:c.311G>A	NP_055064.1:p.Arg104Gln
NM_016346.3:c.311G>A	NP_057430.1:p.Arg104Gln
XM_011521146.1:c.47G>A	XP_011519448.1:p.Arg16Gln
NM_014249.4:c.311G>A MANE Select	NP_055064.1:p.Arg104Gln
NM_016346.4:c.311G>A	NP_057430.1:p.Arg104Gln