Canonical Allele Identifier: CA715428315

Gene: NR2E3

Linked Data

• dbSNP Id: rs1228068250
• gnomAD v4: 15-71811347-A-G
• MyVariant Identifiers: chr15:g.72103687A>G (hg19) ; chr15:g.71811347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811347A>G , CM000677.2:g.71811347A>G	GRCh38
NC_000015.9:g.72103687A>G , CM000677.1:g.72103687A>G	GRCh37
NC_000015.8:g.69890741A>G	NCBI36
NG_009113.2:g.5793A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-136A>G MANE Select	ENSP00000482504.1:n.119-136A>G
ENST00000617575.4:c.119-136A>G	ENSP00000482504.1:n.119-136A>G
ENST00000621098.1:c.119-136A>G	ENSP00000479962.1:n.119-136A>G
ENST00000621736.4:c.-146-136A>G	ENSP00000479254.1:n.-146-136A>G
NM_014249.3:c.119-136A>G	NP_055064.1:n.119-136A>G
NM_016346.3:c.119-136A>G	NP_057430.1:n.119-136A>G
XM_011521146.1:c.-146-136A>G	XP_011519448.1:n.-146-136A>G
NM_014249.4:c.119-136A>G MANE Select	NP_055064.1:n.119-136A>G
NM_016346.4:c.119-136A>G	NP_057430.1:n.119-136A>G