Canonical Allele Identifier: CA618960661

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 2165355
• ClinVar RCV Id: RCV003084330
• dbSNP Id: rs1567159819
• gnomAD v2: 15-72104088-T-C
• gnomAD v4: 15-71811748-T-C
• MyVariant Identifiers: chr15:g.72104088_72104091delinsCCTC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811748T>C , CM000677.2:g.71811748T>C	GRCh38
NC_000015.9:g.72104088T>C , CM000677.1:g.72104088T>C	GRCh37
NC_000015.8:g.69891142T>C	NCBI36
NG_009113.2:g.6194T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.246-18T>C MANE Select	ENSP00000482504.1:n.246-18T>C
ENST00000617575.4:c.246-18T>C	ENSP00000482504.1:n.246-18T>C
ENST00000621098.1:c.246-18T>C	ENSP00000479962.1:n.246-18T>C
ENST00000621736.4:c.-19-18T>C	ENSP00000479254.1:n.-19-18T>C
NM_014249.3:c.246-18T>C	NP_055064.1:n.246-18T>C
NM_016346.3:c.246-18T>C	NP_057430.1:n.246-18T>C
XM_011521146.1:c.-19-18T>C	XP_011519448.1:n.-19-18T>C
NM_014249.4:c.246-18T>C MANE Select	NP_055064.1:n.246-18T>C
NM_016346.4:c.246-18T>C	NP_057430.1:n.246-18T>C