Canonical Allele Identifier: CA235935

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 191061
• ClinVar RCV Id: RCV000171238 ; RCV000787632 ; RCV001074909 ; RCV003468852
• dbSNP Id: rs368098126
• ExAC: 15:72104750 G / A
• gnomAD v2: 15-72104750-G-A
• gnomAD v3: 15-71812410-G-A
• gnomAD v4: 15-71812410-G-A
• MyVariant Identifiers: chr15:g.72104750G>A (hg19) ; chr15:g.71812410G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71812410G>A , CM000677.2:g.71812410G>A	GRCh38
NC_000015.9:g.72104750G>A , CM000677.1:g.72104750G>A	GRCh37
NC_000015.8:g.69891804G>A	NCBI36
NG_009113.2:g.6856G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.646G>A MANE Select	ENSP00000482504.1:p.Gly216Ser
ENST00000617575.4:c.646G>A	ENSP00000482504.1:p.Gly216Ser
ENST00000621098.1:c.646G>A	ENSP00000479962.1:p.Gly216Ser
ENST00000621736.4:c.382G>A	ENSP00000479254.1:p.Gly128Ser
NM_014249.3:c.646G>A	NP_055064.1:p.Gly216Ser
NM_016346.3:c.646G>A	NP_057430.1:p.Gly216Ser
XM_011521146.1:c.382G>A	XP_011519448.1:p.Gly128Ser
NM_014249.4:c.646G>A MANE Select	NP_055064.1:p.Gly216Ser
NM_016346.4:c.646G>A	NP_057430.1:p.Gly216Ser