Canonical Allele Identifier: CA235931
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 191059
dbSNP Id: rs2723341

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811481A>C , CM000677.2:g.71811481A>C GRCh38
NC_000015.9:g.72103821A>C , CM000677.1:g.72103821A>C GRCh37
NC_000015.8:g.69890875A>C NCBI36
NG_009113.2:g.5927A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000617575.5:c.119-2A>C MANE Select ENSP00000482504.1:n.119-2A>C
ENST00000617575.4:c.119-2A>C ENSP00000482504.1:n.119-2A>C
ENST00000621098.1:c.119-2A>C ENSP00000479962.1:n.119-2A>C
ENST00000621736.4:c.-146-2A>C ENSP00000479254.1:n.-146-2A>C
NM_014249.3:c.119-2A>C NP_055064.1:n.119-2A>C
NM_016346.3:c.119-2A>C NP_057430.1:n.119-2A>C
XM_011521146.1:c.-146-2A>C XP_011519448.1:n.-146-2A>C
NM_014249.4:c.119-2A>C MANE Select NP_055064.1:n.119-2A>C
NM_016346.4:c.119-2A>C NP_057430.1:n.119-2A>C