Canonical Allele Identifier: CA2695197297

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 2677372
• ClinVar RCV Id: RCV003471610

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811549_71811550del , CM000677.2:g.71811549_71811550del	GRCh38
NC_000015.9:g.72103889_72103890del , CM000677.1:g.72103889_72103890del	GRCh37
NC_000015.8:g.69890943_69890944del	NCBI36
NG_009113.2:g.5995_5996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.185_186del MANE Select	ENSP00000482504.1:p.Tyr62CysfsTer?
ENST00000617575.4:c.185_186del	ENSP00000482504.1:p.Tyr62CysfsTer?
ENST00000621098.1:c.185_186del	ENSP00000479962.1:p.Tyr62CysfsTer?
ENST00000621736.4:c.-80_-79del	ENSP00000479254.1:n.-80_-79del
NM_014249.3:c.185_186del	NP_055064.1:p.Tyr62CysfsTer?
NM_016346.3:c.185_186del	NP_057430.1:p.Tyr62CysfsTer?
XM_011521146.1:c.-80_-79del	XP_011519448.1:n.-80_-79del
NM_014249.4:c.185_186del MANE Select	NP_055064.1:p.Tyr62CysfsTer?
NM_016346.4:c.185_186del	NP_057430.1:p.Tyr62CysfsTer?