Canonical Allele Identifier: CA491103497
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1671500
ClinVar RCV Id: RCV002198983
dbSNP Id: rs1165198822
gnomAD v2: 15-72103920-G-A
gnomAD v4: 15-71811580-G-A
MyVariant Identifiers: chr15:g.72103920G>A (hg19) chr15:g.71811580G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811580G>A , CM000677.2:g.71811580G>A GRCh38
NC_000015.9:g.72103920G>A , CM000677.1:g.72103920G>A GRCh37
NC_000015.8:g.69890974G>A NCBI36
NG_009113.2:g.6026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.216G>A MANE Select ENSP00000482504.1:p.Lys72=
ENST00000617575.4:c.216G>A ENSP00000482504.1:p.Lys72=
ENST00000621098.1:c.216G>A ENSP00000479962.1:p.Lys72=
ENST00000621736.4:c.-49G>A ENSP00000479254.1:n.-49G>A
NM_014249.3:c.216G>A NP_055064.1:p.Lys72=
NM_016346.3:c.216G>A NP_057430.1:p.Lys72=
XM_011521146.1:c.-49G>A XP_011519448.1:n.-49G>A
NM_014249.4:c.216G>A MANE Select NP_055064.1:p.Lys72=
NM_016346.4:c.216G>A NP_057430.1:p.Lys72=
Search 100 bp 5'
Search 100 bp 3'