Canonical Allele Identifier: CA2667144386

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119817738-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119817738T>G , CM000665.2:g.119817738T>G	GRCh38
NC_000003.11:g.119536585T>G , CM000665.1:g.119536585T>G	GRCh37
NC_000003.10:g.121019275T>G	NCBI36
NG_011856.1:g.42255T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.*526T>G MANE Select	ENSP00000377319.3:n.*526T>G
ENST00000466380.6:c.*526T>G	ENSP00000420297.2:n.*526T>G
ENST00000337940.4:c.*526T>G	ENSP00000336528.4:n.*526T>G
ENST00000393716.6:c.*526T>G	ENSP00000377319.2:n.*526T>G
ENST00000466380.5:c.*526T>G	ENSP00000420297.1:n.*526T>G
ENST00000493757.1:n.1963T>G
NM_003889.3:c.*526T>G	NP_003880.3:n.*526T>G
NM_022002.2:c.*526T>G	NP_071285.1:n.*526T>G
NM_033013.2:c.*526T>G	NP_148934.1:n.*526T>G
NM_003889.4:c.*526T>G MANE Select	NP_003880.3:n.*526T>G
NM_022002.3:c.*526T>G	NP_071285.1:n.*526T>G
NM_033013.3:c.*526T>G	NP_148934.1:n.*526T>G