Canonical Allele Identifier: CA2580089922

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 2029290
• ClinVar RCV Id: RCV002876565

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811507_71811511dup , CM000677.2:g.71811507_71811511dup	GRCh38
NC_000015.9:g.72103847_72103851dup , CM000677.1:g.72103847_72103851dup	GRCh37
NC_000015.8:g.69890901_69890905dup	NCBI36
NG_009113.2:g.5953_5957dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.143_147dup MANE Select	ENSP00000482504.1:p.Cys50AlafsTer?
ENST00000617575.4:c.143_147dup	ENSP00000482504.1:p.Cys50AlafsTer?
ENST00000621098.1:c.143_147dup	ENSP00000479962.1:p.Cys50AlafsTer?
ENST00000621736.4:c.-122_-118dup	ENSP00000479254.1:n.-122_-118dup
NM_014249.3:c.143_147dup	NP_055064.1:p.Cys50AlafsTer?
NM_016346.3:c.143_147dup	NP_057430.1:p.Cys50AlafsTer?
XM_011521146.1:c.-122_-118dup	XP_011519448.1:n.-122_-118dup
NM_014249.4:c.143_147dup MANE Select	NP_055064.1:p.Cys50AlafsTer?
NM_016346.4:c.143_147dup	NP_057430.1:p.Cys50AlafsTer?