Canonical Allele Identifier: CA354056027

Gene: NR1I2

Linked Data

• dbSNP Id: rs1376552093
• gnomAD v3: 3-119807419-A-G
• gnomAD v4: 3-119807419-A-G
• MyVariant Identifiers: chr3:g.119526266A>G (hg19) ; chr3:g.119807419A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807419A>G , CM000665.2:g.119807419A>G	GRCh38
NC_000003.11:g.119526266A>G , CM000665.1:g.119526266A>G	GRCh37
NC_000003.10:g.121008956A>G	NCBI36
NG_011856.1:g.31936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.169A>G MANE Select	ENSP00000377319.3:p.Thr57Ala
ENST00000466380.6:c.169A>G	ENSP00000420297.2:p.Thr57Ala
ENST00000648112.1:c.*192A>G	ENSP00000497876.1:n.*192A>G
ENST00000337940.4:c.286A>G	ENSP00000336528.4:p.Thr96Ala
ENST00000393716.6:c.169A>G	ENSP00000377319.2:p.Thr57Ala
ENST00000466380.5:c.169A>G	ENSP00000420297.1:p.Thr57Ala
ENST00000474090.1:n.457A>G
NM_003889.3:c.169A>G	NP_003880.3:p.Thr57Ala
NM_022002.2:c.286A>G	NP_071285.1:p.Thr96Ala
NM_033013.2:c.169A>G	NP_148934.1:p.Thr57Ala
NM_003889.4:c.169A>G MANE Select	NP_003880.3:p.Thr57Ala
NM_022002.3:c.286A>G	NP_071285.1:p.Thr96Ala
NM_033013.3:c.169A>G	NP_148934.1:p.Thr57Ala