Canonical Allele Identifier: CA7640352

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 317017
• ClinVar RCV Id: RCV000281903 ; RCV000334655 ; RCV001850676 ; RCV001118389
• dbSNP Id: rs376114936
• ExAC: 15:72104663 C / T
• gnomAD v2: 15-72104663-C-T
• gnomAD v3: 15-71812323-C-T
• gnomAD v4: 15-71812323-C-T
• MyVariant Identifiers: chr15:g.72104663C>T (hg19) ; chr15:g.71812323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71812323C>T , CM000677.2:g.71812323C>T	GRCh38
NC_000015.9:g.72104663C>T , CM000677.1:g.72104663C>T	GRCh37
NC_000015.8:g.69891717C>T	NCBI36
NG_009113.2:g.6769C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.572-13C>T MANE Select	ENSP00000482504.1:n.572-13C>T
ENST00000617575.4:c.572-13C>T	ENSP00000482504.1:n.572-13C>T
ENST00000621098.1:c.572-13C>T	ENSP00000479962.1:n.572-13C>T
ENST00000621736.4:c.308-13C>T	ENSP00000479254.1:n.308-13C>T
NM_014249.3:c.572-13C>T	NP_055064.1:n.572-13C>T
NM_016346.3:c.572-13C>T	NP_057430.1:n.572-13C>T
XM_011521146.1:c.308-13C>T	XP_011519448.1:n.308-13C>T
NM_014249.4:c.572-13C>T MANE Select	NP_055064.1:n.572-13C>T
NM_016346.4:c.572-13C>T	NP_057430.1:n.572-13C>T