Canonical Allele Identifier: CA545961521

Gene: NR1I2

Linked Data

• dbSNP Id: rs200783966
• gnomAD v2: 3-119530378-C-G
• gnomAD v4: 3-119811531-C-G
• MyVariant Identifiers: chr3:g.119530378C>G (hg19) ; chr3:g.119811531C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119811531C>G , CM000665.2:g.119811531C>G	GRCh38
NC_000003.11:g.119530378C>G , CM000665.1:g.119530378C>G	GRCh37
NC_000003.10:g.121013068C>G	NCBI36
NG_011856.1:g.36048C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.332-8C>G MANE Select	ENSP00000377319.3:n.332-8C>G
ENST00000466380.6:c.332-8C>G	ENSP00000420297.2:n.332-8C>G
ENST00000337940.4:c.449-8C>G	ENSP00000336528.4:n.449-8C>G
ENST00000393716.6:c.332-8C>G	ENSP00000377319.2:n.332-8C>G
ENST00000466380.5:c.332-8C>G	ENSP00000420297.1:n.332-8C>G
ENST00000493757.1:n.456C>G
NM_003889.3:c.332-8C>G	NP_003880.3:n.332-8C>G
NM_022002.2:c.449-8C>G	NP_071285.1:n.449-8C>G
NM_033013.2:c.332-8C>G	NP_148934.1:n.332-8C>G
NM_003889.4:c.332-8C>G MANE Select	NP_003880.3:n.332-8C>G
NM_022002.3:c.449-8C>G	NP_071285.1:n.449-8C>G
NM_033013.3:c.332-8C>G	NP_148934.1:n.332-8C>G