Canonical Allele Identifier: CA2186513544

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 2803359
• ClinVar RCV Id: RCV003681463
• dbSNP Id: rs2054179100
• gnomAD v4: 15-71811473-T-TGCCCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811474_71811480dup , CM000677.2:g.71811474_71811480dup	GRCh38
NC_000015.9:g.72103814_72103820dup , CM000677.1:g.72103814_72103820dup	GRCh37
NC_000015.8:g.69890868_69890874dup	NCBI36
NG_009113.2:g.5920_5926dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.119-9_119-3dup MANE Select	ENSP00000482504.1:n.119-9_119-3dup
ENST00000617575.4:c.119-9_119-3dup	ENSP00000482504.1:n.119-9_119-3dup
ENST00000621098.1:c.119-9_119-3dup	ENSP00000479962.1:n.119-9_119-3dup
ENST00000621736.4:c.-146-9_-146-3dup	ENSP00000479254.1:n.-146-9_-146-3dup
NM_014249.3:c.119-9_119-3dup	NP_055064.1:n.119-9_119-3dup
NM_016346.3:c.119-9_119-3dup	NP_057430.1:n.119-9_119-3dup
XM_011521146.1:c.-146-9_-146-3dup	XP_011519448.1:n.-146-9_-146-3dup
NM_014249.4:c.119-9_119-3dup MANE Select	NP_055064.1:n.119-9_119-3dup
NM_016346.4:c.119-9_119-3dup	NP_057430.1:n.119-9_119-3dup