Canonical Allele Identifier: CA2186513583

Gene: NR2E3

Linked Data

• dbSNP Id: rs2054180034

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811526_71811533del , CM000677.2:g.71811526_71811533del	GRCh38
NC_000015.9:g.72103866_72103873del , CM000677.1:g.72103866_72103873del	GRCh37
NC_000015.8:g.69890920_69890927del	NCBI36
NG_009113.2:g.5972_5979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.162_169del MANE Select	ENSP00000482504.1:p.Ser54ArgfsTer?
ENST00000617575.4:c.162_169del	ENSP00000482504.1:p.Ser54ArgfsTer?
ENST00000621098.1:c.162_169del	ENSP00000479962.1:p.Ser54ArgfsTer?
ENST00000621736.4:c.-103_-96del	ENSP00000479254.1:n.-103_-96del
NM_014249.3:c.162_169del	NP_055064.1:p.Ser54ArgfsTer?
NM_016346.3:c.162_169del	NP_057430.1:p.Ser54ArgfsTer?
XM_011521146.1:c.-103_-96del	XP_011519448.1:n.-103_-96del
NM_014249.4:c.162_169del MANE Select	NP_055064.1:p.Ser54ArgfsTer?
NM_016346.4:c.162_169del	NP_057430.1:p.Ser54ArgfsTer?