Canonical Allele Identifier: CA2739269550

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 2822980
• ClinVar RCV Id: RCV003723185

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811752C>G , CM000677.2:g.71811752C>G	GRCh38
NC_000015.9:g.72104092C>G , CM000677.1:g.72104092C>G	GRCh37
NC_000015.8:g.69891146C>G	NCBI36
NG_009113.2:g.6198C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.246-14C>G MANE Select	ENSP00000482504.1:n.246-14C>G
ENST00000617575.4:c.246-14C>G	ENSP00000482504.1:n.246-14C>G
ENST00000621098.1:c.246-14C>G	ENSP00000479962.1:n.246-14C>G
ENST00000621736.4:c.-19-14C>G	ENSP00000479254.1:n.-19-14C>G
NM_014249.3:c.246-14C>G	NP_055064.1:n.246-14C>G
NM_016346.3:c.246-14C>G	NP_057430.1:n.246-14C>G
XM_011521146.1:c.-19-14C>G	XP_011519448.1:n.-19-14C>G
NM_014249.4:c.246-14C>G MANE Select	NP_055064.1:n.246-14C>G
NM_016346.4:c.246-14C>G	NP_057430.1:n.246-14C>G