Canonical Allele Identifier: CA7640281

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 1132049
• ClinVar RCV Id: RCV001466110
• dbSNP Id: rs760466119
• ExAC: 15:72104166 C / T
• gnomAD v2: 15-72104166-C-T
• gnomAD v4: 15-71811826-C-T
• MyVariant Identifiers: chr15:g.72104166C>T (hg19) ; chr15:g.71811826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811826C>T , CM000677.2:g.71811826C>T	GRCh38
NC_000015.9:g.72104166C>T , CM000677.1:g.72104166C>T	GRCh37
NC_000015.8:g.69891220C>T	NCBI36
NG_009113.2:g.6272C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.306C>T MANE Select	ENSP00000482504.1:p.Ala102=
ENST00000617575.4:c.306C>T	ENSP00000482504.1:p.Ala102=
ENST00000621098.1:c.306C>T	ENSP00000479962.1:p.Ala102=
ENST00000621736.4:c.42C>T	ENSP00000479254.1:p.Ala14=
NM_014249.3:c.306C>T	NP_055064.1:p.Ala102=
NM_016346.3:c.306C>T	NP_057430.1:p.Ala102=
XM_011521146.1:c.42C>T	XP_011519448.1:p.Ala14=
NM_014249.4:c.306C>T MANE Select	NP_055064.1:p.Ala102=
NM_016346.4:c.306C>T	NP_057430.1:p.Ala102=