Canonical Allele Identifier: CA81754724

Gene: NR1I2

Linked Data

• dbSNP Id: rs3732360
• gnomAD v3: 3-119817734-C-G
• gnomAD v4: 3-119817734-C-G
• MyVariant Identifiers: chr3:g.119536581C>G (hg19) ; chr3:g.119817734C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119817734C>G , CM000665.2:g.119817734C>G	GRCh38
NC_000003.11:g.119536581C>G , CM000665.1:g.119536581C>G	GRCh37
NC_000003.10:g.121019271C>G	NCBI36
NG_011856.1:g.42251C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000393716.8:c.*522C>G MANE Select	ENSP00000377319.3:n.*522C>G
ENST00000466380.6:c.*522C>G	ENSP00000420297.2:n.*522C>G
ENST00000337940.4:c.*522C>G	ENSP00000336528.4:n.*522C>G
ENST00000393716.6:c.*522C>G	ENSP00000377319.2:n.*522C>G
ENST00000466380.5:c.*522C>G	ENSP00000420297.1:n.*522C>G
ENST00000493757.1:n.1959C>G
NM_003889.3:c.*522C>G	NP_003880.3:n.*522C>G
NM_022002.2:c.*522C>G	NP_071285.1:n.*522C>G
NM_033013.2:c.*522C>G	NP_148934.1:n.*522C>G
NM_003889.4:c.*522C>G MANE Select	NP_003880.3:n.*522C>G
NM_022002.3:c.*522C>G	NP_071285.1:n.*522C>G
NM_033013.3:c.*522C>G	NP_148934.1:n.*522C>G