Canonical Allele Identifier: CA2186513667

Gene: NR2E3

Linked Data

• dbSNP Id: rs2054182057

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811664A>T , CM000677.2:g.71811664A>T	GRCh38
NC_000015.9:g.72104004A>T , CM000677.1:g.72104004A>T	GRCh37
NC_000015.8:g.69891058A>T	NCBI36
NG_009113.2:g.6110A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.245+55A>T MANE Select	ENSP00000482504.1:n.245+55A>T
ENST00000617575.4:c.245+55A>T	ENSP00000482504.1:n.245+55A>T
ENST00000621098.1:c.245+55A>T	ENSP00000479962.1:n.245+55A>T
ENST00000621736.4:c.-20+55A>T	ENSP00000479254.1:n.-20+55A>T
NM_014249.3:c.245+55A>T	NP_055064.1:n.245+55A>T
NM_016346.3:c.245+55A>T	NP_057430.1:n.245+55A>T
XM_011521146.1:c.-20+55A>T	XP_011519448.1:n.-20+55A>T
NM_014249.4:c.245+55A>T MANE Select	NP_055064.1:n.245+55A>T
NM_016346.4:c.245+55A>T	NP_057430.1:n.245+55A>T