Canonical Allele Identifier: CA270110

Gene: NR2E3

Linked Data

• ClinVar Variation Id: 143147
• ClinVar RCV Id: RCV000132672 ; RCV000670387 ; RCV001075734 ; RCV001205439 ; RCV001831925 ; RCV004532584
• dbSNP Id: rs527236086
• gnomAD v2: 15-72104309-C-T
• gnomAD v3: 15-71811969-C-T
• gnomAD v4: 15-71811969-C-T
• MyVariant Identifiers: chr15:g.72104309C>T (hg19) ; chr15:g.71811969C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.71811969C>T , CM000677.2:g.71811969C>T	GRCh38
NC_000015.9:g.72104309C>T , CM000677.1:g.72104309C>T	GRCh37
NC_000015.8:g.69891363C>T	NCBI36
NG_009113.2:g.6415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617575.5:c.364C>T MANE Select	ENSP00000482504.1:p.Arg122Cys
ENST00000617575.4:c.364C>T	ENSP00000482504.1:p.Arg122Cys
ENST00000621098.1:c.364C>T	ENSP00000479962.1:p.Arg122Cys
ENST00000621736.4:c.100C>T	ENSP00000479254.1:p.Arg34Cys
NM_014249.3:c.364C>T	NP_055064.1:p.Arg122Cys
NM_016346.3:c.364C>T	NP_057430.1:p.Arg122Cys
XM_011521146.1:c.100C>T	XP_011519448.1:p.Arg34Cys
NM_014249.4:c.364C>T MANE Select	NP_055064.1:p.Arg122Cys
NM_016346.4:c.364C>T	NP_057430.1:p.Arg122Cys