Canonical Allele Identifier: CA2557758

Gene: NR1I2

Linked Data

• dbSNP Id: rs181113325
• ExAC: 3:119526316 C / A
• gnomAD v2: 3-119526316-C-A
• gnomAD v3: 3-119807469-C-A
• gnomAD v4: 3-119807469-C-A
• MyVariant Identifiers: chr3:g.119526316C>A (hg19) ; chr3:g.119807469C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807469C>A , CM000665.2:g.119807469C>A	GRCh38
NC_000003.11:g.119526316C>A , CM000665.1:g.119526316C>A	GRCh37
NC_000003.10:g.121009006C>A	NCBI36
NG_011856.1:g.31986C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.197+22C>A MANE Select	ENSP00000377319.3:n.197+22C>A
ENST00000466380.6:c.197+22C>A	ENSP00000420297.2:n.197+22C>A
ENST00000648112.1:c.*242C>A	ENSP00000497876.1:n.*242C>A
ENST00000337940.4:c.314+22C>A	ENSP00000336528.4:n.314+22C>A
ENST00000393716.6:c.197+22C>A	ENSP00000377319.2:n.197+22C>A
ENST00000466380.5:c.197+22C>A	ENSP00000420297.1:n.197+22C>A
ENST00000474090.1:n.485+22C>A
NM_003889.3:c.197+22C>A	NP_003880.3:n.197+22C>A
NM_022002.2:c.314+22C>A	NP_071285.1:n.314+22C>A
NM_033013.2:c.197+22C>A	NP_148934.1:n.197+22C>A
NM_003889.4:c.197+22C>A MANE Select	NP_003880.3:n.197+22C>A
NM_022002.3:c.314+22C>A	NP_071285.1:n.314+22C>A
NM_033013.3:c.197+22C>A	NP_148934.1:n.197+22C>A