Canonical Allele Identifier: CA232847

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 143146
• ClinVar RCV Id: RCV000132671 ; RCV000666581 ; RCV001276065 ; RCV003888566
• dbSNP Id: rs146403122
• ExAC: 15:72104306 G / A
• gnomAD v2: 15-72104306-G-A
• gnomAD v3: 15-71811966-G-A
• gnomAD v4: 15-71811966-G-A
• COSMIC: COSM3678255
• MyVariant Identifiers: chr15:g.72104306G>A (hg19) ; chr15:g.71811966G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811966G>A , CM000677.2:g.71811966G>A	GRCh38
NC_000015.9:g.72104306G>A , CM000677.1:g.72104306G>A	GRCh37
NC_000015.8:g.69891360G>A	NCBI36
NG_009113.2:g.6412G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.361G>A MANE Select	ENSP00000482504.1:p.Glu121Lys
ENST00000617575.4:c.361G>A	ENSP00000482504.1:p.Glu121Lys
ENST00000621098.1:c.361G>A	ENSP00000479962.1:p.Glu121Lys
ENST00000621736.4:c.97G>A	ENSP00000479254.1:p.Glu33Lys
NM_014249.3:c.361G>A	NP_055064.1:p.Glu121Lys
NM_016346.3:c.361G>A	NP_057430.1:p.Glu121Lys
XM_011521146.1:c.97G>A	XP_011519448.1:p.Glu33Lys
NM_014249.4:c.361G>A MANE Select	NP_055064.1:p.Glu121Lys
NM_016346.4:c.361G>A	NP_057430.1:p.Glu121Lys