Canonical Allele Identifier: CA393032001
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1284887
ClinVar RCV Id: RCV001699909
dbSNP Id: rs2140288687

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811519A>G , CM000677.2:g.71811519A>G GRCh38
NC_000015.9:g.72103859A>G , CM000677.1:g.72103859A>G GRCh37
NC_000015.8:g.69890913A>G NCBI36
NG_009113.2:g.5965A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.155A>G MANE Select ENSP00000482504.1:p.Asp52Gly
ENST00000617575.4:c.155A>G ENSP00000482504.1:p.Asp52Gly
ENST00000621098.1:c.155A>G ENSP00000479962.1:p.Asp52Gly
ENST00000621736.4:c.-110A>G ENSP00000479254.1:n.-110A>G
NM_014249.3:c.155A>G NP_055064.1:p.Asp52Gly
NM_016346.3:c.155A>G NP_057430.1:p.Asp52Gly
XM_011521146.1:c.-110A>G XP_011519448.1:n.-110A>G
NM_014249.4:c.155A>G MANE Select NP_055064.1:p.Asp52Gly
NM_016346.4:c.155A>G NP_057430.1:p.Asp52Gly