Canonical Allele Identifier: CA7640232
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 558411
ClinVar RCV Id: RCV000674676 RCV000761915 RCV001275371 RCV002532165
dbSNP Id: rs563014885
ExAC: 15:72103874 A / G
gnomAD v2: 15-72103874-A-G
gnomAD v3: 15-71811534-A-G
gnomAD v4: 15-71811534-A-G
MyVariant Identifiers: chr15:g.72103874A>G (hg19) chr15:g.71811534A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811534A>G , CM000677.2:g.71811534A>G GRCh38
NC_000015.9:g.72103874A>G , CM000677.1:g.72103874A>G GRCh37
NC_000015.8:g.69890928A>G NCBI36
NG_009113.2:g.5980A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.170A>G MANE Select ENSP00000482504.1:p.Lys57Arg
ENST00000617575.4:c.170A>G ENSP00000482504.1:p.Lys57Arg
ENST00000621098.1:c.170A>G ENSP00000479962.1:p.Lys57Arg
ENST00000621736.4:c.-95A>G ENSP00000479254.1:n.-95A>G
NM_014249.3:c.170A>G NP_055064.1:p.Lys57Arg
NM_016346.3:c.170A>G NP_057430.1:p.Lys57Arg
XM_011521146.1:c.-95A>G XP_011519448.1:n.-95A>G
NM_014249.4:c.170A>G MANE Select NP_055064.1:p.Lys57Arg
NM_016346.4:c.170A>G NP_057430.1:p.Lys57Arg
Search 100 bp 5'
Search 100 bp 3'