Canonical Allele Identifier: CA2695197300

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 2677368
• ClinVar RCV Id: RCV003463208

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811818_71811819del , CM000677.2:g.71811818_71811819del	GRCh38
NC_000015.9:g.72104158_72104159del , CM000677.1:g.72104158_72104159del	GRCh37
NC_000015.8:g.69891212_69891213del	NCBI36
NG_009113.2:g.6264_6265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.298_299del MANE Select	ENSP00000482504.1:p.Cys100ProfsTer?
ENST00000617575.4:c.298_299del	ENSP00000482504.1:p.Cys100ProfsTer?
ENST00000621098.1:c.298_299del	ENSP00000479962.1:p.Cys100ProfsTer?
ENST00000621736.4:c.34_35del	ENSP00000479254.1:p.Cys12ProfsTer?
NM_014249.3:c.298_299del	NP_055064.1:p.Cys100ProfsTer?
NM_016346.3:c.298_299del	NP_057430.1:p.Cys100ProfsTer?
XM_011521146.1:c.34_35del	XP_011519448.1:p.Cys12ProfsTer?
NM_014249.4:c.298_299del MANE Select	NP_055064.1:p.Cys100ProfsTer?
NM_016346.4:c.298_299del	NP_057430.1:p.Cys100ProfsTer?