Canonical Allele Identifier: CA7640289

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 317011
• ClinVar RCV Id: RCV000303540 ; RCV000399136 ; RCV000887757 ; RCV001118292
• dbSNP Id: rs112520386
• ExAC: 15:72104217 G / A
• gnomAD v2: 15-72104217-G-A
• gnomAD v3: 15-71811877-G-A
• gnomAD v4: 15-71811877-G-A
• MyVariant Identifiers: chr15:g.72104217G>A (hg19) ; chr15:g.71811877G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811877G>A , CM000677.2:g.71811877G>A	GRCh38
NC_000015.9:g.72104217G>A , CM000677.1:g.72104217G>A	GRCh37
NC_000015.8:g.69891271G>A	NCBI36
NG_009113.2:g.6323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.349+8G>A MANE Select	ENSP00000482504.1:n.349+8G>A
ENST00000617575.4:c.349+8G>A	ENSP00000482504.1:n.349+8G>A
ENST00000621098.1:c.349+8G>A	ENSP00000479962.1:n.349+8G>A
ENST00000621736.4:c.85+8G>A	ENSP00000479254.1:n.85+8G>A
NM_014249.3:c.349+8G>A	NP_055064.1:n.349+8G>A
NM_016346.3:c.349+8G>A	NP_057430.1:n.349+8G>A
XM_011521146.1:c.85+8G>A	XP_011519448.1:n.85+8G>A
NM_014249.4:c.349+8G>A MANE Select	NP_055064.1:n.349+8G>A
NM_016346.4:c.349+8G>A	NP_057430.1:n.349+8G>A