Canonical Allele Identifier: CA7640274
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2067732
ClinVar RCV Id: RCV002970608
dbSNP Id: rs746366181
ExAC: 15:72104125 A / G
gnomAD v2: 15-72104125-A-G
gnomAD v3: 15-71811785-A-G
gnomAD v4: 15-71811785-A-G
MyVariant Identifiers: chr15:g.72104125A>G (hg19) chr15:g.71811785A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811785A>G , CM000677.2:g.71811785A>G GRCh38
NC_000015.9:g.72104125A>G , CM000677.1:g.72104125A>G GRCh37
NC_000015.8:g.69891179A>G NCBI36
NG_009113.2:g.6231A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.265A>G MANE Select ENSP00000482504.1:p.Met89Val
ENST00000617575.4:c.265A>G ENSP00000482504.1:p.Met89Val
ENST00000621098.1:c.265A>G ENSP00000479962.1:p.Met89Val
ENST00000621736.4:c.1A>G ENSP00000479254.1:p.Met1Val
NM_014249.3:c.265A>G NP_055064.1:p.Met89Val
NM_016346.3:c.265A>G NP_057430.1:p.Met89Val
XM_011521146.1:c.1A>G XP_011519448.1:p.Met1Val
NM_014249.4:c.265A>G MANE Select NP_055064.1:p.Met89Val
NM_016346.4:c.265A>G NP_057430.1:p.Met89Val
Search 100 bp 5'
Search 100 bp 3'