Canonical Allele Identifier: CA1052765233

Gene: NR1I2

Linked Data

• dbSNP Id: rs2055349081
• gnomAD v3: 3-119817655-G-T
• gnomAD v4: 3-119817655-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119817655G>T , CM000665.2:g.119817655G>T	GRCh38
NC_000003.11:g.119536502G>T , CM000665.1:g.119536502G>T	GRCh37
NC_000003.10:g.121019192G>T	NCBI36
NG_011856.1:g.42172G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.*443G>T MANE Select	ENSP00000377319.3:n.*443G>T
ENST00000466380.6:c.*443G>T	ENSP00000420297.2:n.*443G>T
ENST00000337940.4:c.*443G>T	ENSP00000336528.4:n.*443G>T
ENST00000393716.6:c.*443G>T	ENSP00000377319.2:n.*443G>T
ENST00000466380.5:c.*443G>T	ENSP00000420297.1:n.*443G>T
ENST00000493757.1:n.1880G>T
NM_003889.3:c.*443G>T	NP_003880.3:n.*443G>T
NM_022002.2:c.*443G>T	NP_071285.1:n.*443G>T
NM_033013.2:c.*443G>T	NP_148934.1:n.*443G>T
NM_003889.4:c.*443G>T MANE Select	NP_003880.3:n.*443G>T
NM_022002.3:c.*443G>T	NP_071285.1:n.*443G>T
NM_033013.3:c.*443G>T	NP_148934.1:n.*443G>T