Canonical Allele Identifier: CA354057640

Gene: NR1I2

Linked Data

• dbSNP Id: rs1438668845
• gnomAD v3: 3-119811546-G-A
• gnomAD v4: 3-119811546-G-A
• MyVariant Identifiers: chr3:g.119530393G>A (hg19) ; chr3:g.119811546G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119811546G>A , CM000665.2:g.119811546G>A	GRCh38
NC_000003.11:g.119530393G>A , CM000665.1:g.119530393G>A	GRCh37
NC_000003.10:g.121013083G>A	NCBI36
NG_011856.1:g.36063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.339G>A MANE Select	ENSP00000377319.3:p.Met113Ile
ENST00000466380.6:c.339G>A	ENSP00000420297.2:p.Met113Ile
ENST00000337940.4:c.456G>A	ENSP00000336528.4:p.Met152Ile
ENST00000393716.6:c.339G>A	ENSP00000377319.2:p.Met113Ile
ENST00000466380.5:c.339G>A	ENSP00000420297.1:p.Met113Ile
ENST00000493757.1:n.471G>A
NM_003889.3:c.339G>A	NP_003880.3:p.Met113Ile
NM_022002.2:c.456G>A	NP_071285.1:p.Met152Ile
NM_033013.2:c.339G>A	NP_148934.1:p.Met113Ile
NM_003889.4:c.339G>A MANE Select	NP_003880.3:p.Met113Ile
NM_022002.3:c.456G>A	NP_071285.1:p.Met152Ile
NM_033013.3:c.339G>A	NP_148934.1:p.Met113Ile