Canonical Allele Identifier: CA2186513754

Gene: NR2E3

Linked Data

• dbSNP Id: rs2054184475

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811826_71811827del , CM000677.2:g.71811826_71811827del	GRCh38
NC_000015.9:g.72104166_72104167del , CM000677.1:g.72104166_72104167del	GRCh37
NC_000015.8:g.69891220_69891221del	NCBI36
NG_009113.2:g.6272_6273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.306_307del MANE Select	ENSP00000482504.1:p.Cys103ProfsTer?
ENST00000617575.4:c.306_307del	ENSP00000482504.1:p.Cys103ProfsTer?
ENST00000621098.1:c.306_307del	ENSP00000479962.1:p.Cys103ProfsTer?
ENST00000621736.4:c.42_43del	ENSP00000479254.1:p.Cys15ProfsTer?
NM_014249.3:c.306_307del	NP_055064.1:p.Cys103ProfsTer?
NM_016346.3:c.306_307del	NP_057430.1:p.Cys103ProfsTer?
XM_011521146.1:c.42_43del	XP_011519448.1:p.Cys15ProfsTer?
NM_014249.4:c.306_307del MANE Select	NP_055064.1:p.Cys103ProfsTer?
NM_016346.4:c.306_307del	NP_057430.1:p.Cys103ProfsTer?