Canonical Allele Identifier: CA7640221

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 1132278
• ClinVar RCV Id: RCV001466458
• dbSNP Id: rs752219772
• ExAC: 15:72103839 C / T
• gnomAD v2: 15-72103839-C-T
• gnomAD v3: 15-71811499-C-T
• gnomAD v4: 15-71811499-C-T
• MyVariant Identifiers: chr15:g.72103839C>T (hg19) ; chr15:g.71811499C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811499C>T , CM000677.2:g.71811499C>T	GRCh38
NC_000015.9:g.72103839C>T , CM000677.1:g.72103839C>T	GRCh37
NC_000015.8:g.69890893C>T	NCBI36
NG_009113.2:g.5945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.135C>T MANE Select	ENSP00000482504.1:p.Leu45=
ENST00000617575.4:c.135C>T	ENSP00000482504.1:p.Leu45=
ENST00000621098.1:c.135C>T	ENSP00000479962.1:p.Leu45=
ENST00000621736.4:c.-130C>T	ENSP00000479254.1:n.-130C>T
NM_014249.3:c.135C>T	NP_055064.1:p.Leu45=
NM_016346.3:c.135C>T	NP_057430.1:p.Leu45=
XM_011521146.1:c.-130C>T	XP_011519448.1:n.-130C>T
NM_014249.4:c.135C>T MANE Select	NP_055064.1:p.Leu45=
NM_016346.4:c.135C>T	NP_057430.1:p.Leu45=