Canonical Allele Identifier: CA2557711

Gene: NR1I2

Linked Data

• dbSNP Id: rs775173325
• ExAC: 3:119526100 G / A
• gnomAD v2: 3-119526100-G-A
• gnomAD v3: 3-119807253-G-A
• gnomAD v4: 3-119807253-G-A
• MyVariant Identifiers: chr3:g.119526100G>A (hg19) ; chr3:g.119807253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807253G>A , CM000665.2:g.119807253G>A	GRCh38
NC_000003.11:g.119526100G>A , CM000665.1:g.119526100G>A	GRCh37
NC_000003.10:g.121008790G>A	NCBI36
NG_011856.1:g.31770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.3G>A MANE Select	ENSP00000377319.3:p.Leu1=
ENST00000466380.6:c.3G>A	ENSP00000420297.2:p.Leu1=
ENST00000648112.1:c.*26G>A	ENSP00000497876.1:n.*26G>A
ENST00000337940.4:c.120G>A	ENSP00000336528.4:p.Leu40=
ENST00000393716.6:c.3G>A	ENSP00000377319.2:p.Leu1=
ENST00000466380.5:c.3G>A	ENSP00000420297.1:p.Leu1=
ENST00000474090.1:n.291G>A
NM_003889.3:c.3G>A	NP_003880.3:p.Leu1=
NM_022002.2:c.120G>A	NP_071285.1:p.Leu40=
NM_033013.2:c.3G>A	NP_148934.1:p.Leu1=
NM_003889.4:c.3G>A MANE Select	NP_003880.3:p.Leu1=
NM_022002.3:c.120G>A	NP_071285.1:p.Leu40=
NM_033013.3:c.3G>A	NP_148934.1:p.Leu1=