Canonical Allele Identifier: CA2667141646

Gene: NR1I2

Linked Data

• gnomAD v4: 3-119807222-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807222T>C , CM000665.2:g.119807222T>C	GRCh38
NC_000003.11:g.119526069T>C , CM000665.1:g.119526069T>C	GRCh37
NC_000003.10:g.121008759T>C	NCBI36
NG_011856.1:g.31739T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.-22-7T>C MANE Select	ENSP00000377319.3:n.-22-7T>C
ENST00000466380.6:c.-22-7T>C	ENSP00000420297.2:n.-22-7T>C
ENST00000648112.1:c.*2-7T>C	ENSP00000497876.1:n.*2-7T>C
ENST00000337940.4:c.96-7T>C	ENSP00000336528.4:n.96-7T>C
ENST00000393716.6:c.-22-7T>C	ENSP00000377319.2:n.-22-7T>C
ENST00000466380.5:c.-22-7T>C	ENSP00000420297.1:n.-22-7T>C
ENST00000474090.1:n.267-7T>C
NM_003889.3:c.-22-7T>C	NP_003880.3:n.-22-7T>C
NM_022002.2:c.96-7T>C	NP_071285.1:n.96-7T>C
NM_033013.2:c.-22-7T>C	NP_148934.1:n.-22-7T>C
NM_003889.4:c.-22-7T>C MANE Select	NP_003880.3:n.-22-7T>C
NM_022002.3:c.96-7T>C	NP_071285.1:n.96-7T>C
NM_033013.3:c.-22-7T>C	NP_148934.1:n.-22-7T>C