Canonical Allele Identifier: CA2573151137
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1674844
ClinVar RCV Id: RCV002208562
dbSNP Id: rs2140288570
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811471_71811472insAGCC , CM000677.2:g.71811471_71811472insAGCC GRCh38
NC_000015.9:g.72103811_72103812insAGCC , CM000677.1:g.72103811_72103812insAGCC GRCh37
NC_000015.8:g.69890865_69890866insAGCC NCBI36
NG_009113.2:g.5917_5918insAGCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.119-12_119-11insAGCC MANE Select ENSP00000482504.1:n.119-12_119-11insAGCC
ENST00000617575.4:c.119-12_119-11insAGCC ENSP00000482504.1:n.119-12_119-11insAGCC
ENST00000621098.1:c.119-12_119-11insAGCC ENSP00000479962.1:n.119-12_119-11insAGCC
ENST00000621736.4:c.-146-12_-146-11insAGCC ENSP00000479254.1:n.-146-12_-146-11insAGCC
NM_014249.3:c.119-12_119-11insAGCC NP_055064.1:n.119-12_119-11insAGCC
NM_016346.3:c.119-12_119-11insAGCC NP_057430.1:n.119-12_119-11insAGCC
XM_011521146.1:c.-146-12_-146-11insAGCC XP_011519448.1:n.-146-12_-146-11insAGCC
NM_014249.4:c.119-12_119-11insAGCC MANE Select NP_055064.1:n.119-12_119-11insAGCC
NM_016346.4:c.119-12_119-11insAGCC NP_057430.1:n.119-12_119-11insAGCC
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