Canonical Allele Identifier: CA7640229

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 1065725
• ClinVar RCV Id: RCV001376380 ; RCV001871986 ; RCV003462941 ; RCV003888075
• dbSNP Id: rs544807110
• ExAC: 15:72103855 G / A
• gnomAD v2: 15-72103855-G-A
• gnomAD v3: 15-71811515-G-A
• gnomAD v4: 15-71811515-G-A
• COSMIC: COSM4056603
• MyVariant Identifiers: chr15:g.72103855G>A (hg19) ; chr15:g.71811515G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811515G>A , CM000677.2:g.71811515G>A	GRCh38
NC_000015.9:g.72103855G>A , CM000677.1:g.72103855G>A	GRCh37
NC_000015.8:g.69890909G>A	NCBI36
NG_009113.2:g.5961G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.151G>A MANE Select	ENSP00000482504.1:p.Gly51Arg
ENST00000617575.4:c.151G>A	ENSP00000482504.1:p.Gly51Arg
ENST00000621098.1:c.151G>A	ENSP00000479962.1:p.Gly51Arg
ENST00000621736.4:c.-114G>A	ENSP00000479254.1:n.-114G>A
NM_014249.3:c.151G>A	NP_055064.1:p.Gly51Arg
NM_016346.3:c.151G>A	NP_057430.1:p.Gly51Arg
XM_011521146.1:c.-114G>A	XP_011519448.1:n.-114G>A
NM_014249.4:c.151G>A MANE Select	NP_055064.1:p.Gly51Arg
NM_016346.4:c.151G>A	NP_057430.1:p.Gly51Arg