Canonical Allele Identifier: CA7640245
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 967420
ClinVar RCV Id: RCV001242325
dbSNP Id: rs104894492
ExAC: 15:72103930 C / A
gnomAD v2: 15-72103930-C-A
gnomAD v4: 15-71811590-C-A
MyVariant Identifiers: chr15:g.72103930C>A (hg19) chr15:g.72103930_72103931delinsAG (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811590C>A , CM000677.2:g.71811590C>A GRCh38
NC_000015.9:g.72103930C>A , CM000677.1:g.72103930C>A GRCh37
NC_000015.8:g.69890984C>A NCBI36
NG_009113.2:g.6036C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.226C>A MANE Select ENSP00000482504.1:p.Arg76=
ENST00000617575.4:c.226C>A ENSP00000482504.1:p.Arg76=
ENST00000621098.1:c.226C>A ENSP00000479962.1:p.Arg76=
ENST00000621736.4:c.-39C>A ENSP00000479254.1:n.-39C>A
NM_014249.3:c.226C>A NP_055064.1:p.Arg76=
NM_016346.3:c.226C>A NP_057430.1:p.Arg76=
XM_011521146.1:c.-39C>A XP_011519448.1:n.-39C>A
NM_014249.4:c.226C>A MANE Select NP_055064.1:p.Arg76=
NM_016346.4:c.226C>A NP_057430.1:p.Arg76=
Search 100 bp 5'
Search 100 bp 3'