Canonical Allele Identifier: CA393032156
Gene: NR2E3 HGNC NCBI

Linked Data

ClinVar Variation Id: 444348
ClinVar RCV Id: RCV000513337
dbSNP Id: rs750284532
gnomAD v2: 15-72103927-G-T
gnomAD v4: 15-71811587-G-T
MyVariant Identifiers: chr15:g.72103927G>T (hg19) chr15:g.71811587G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.71811587G>T , CM000677.2:g.71811587G>T GRCh38
NC_000015.9:g.72103927G>T , CM000677.1:g.72103927G>T GRCh37
NC_000015.8:g.69890981G>T NCBI36
NG_009113.2:g.6033G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617575.5:c.223G>T MANE Select ENSP00000482504.1:p.Val75Leu
ENST00000617575.4:c.223G>T ENSP00000482504.1:p.Val75Leu
ENST00000621098.1:c.223G>T ENSP00000479962.1:p.Val75Leu
ENST00000621736.4:c.-42G>T ENSP00000479254.1:n.-42G>T
NM_014249.3:c.223G>T NP_055064.1:p.Val75Leu
NM_016346.3:c.223G>T NP_057430.1:p.Val75Leu
XM_011521146.1:c.-42G>T XP_011519448.1:n.-42G>T
NM_014249.4:c.223G>T MANE Select NP_055064.1:p.Val75Leu
NM_016346.4:c.223G>T NP_057430.1:p.Val75Leu
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