Canonical Allele Identifier: CA435219562

Gene: NR1I2

Linked Data

• dbSNP Id: rs1392091814
• gnomAD v2: 3-119526244-T-C
• gnomAD v4: 3-119807397-T-C
• MyVariant Identifiers: chr3:g.119526244T>C (hg19) ; chr3:g.119807397T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119807397T>C , CM000665.2:g.119807397T>C	GRCh38
NC_000003.11:g.119526244T>C , CM000665.1:g.119526244T>C	GRCh37
NC_000003.10:g.121008934T>C	NCBI36
NG_011856.1:g.31914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.147T>C MANE Select	ENSP00000377319.3:p.Thr49=
ENST00000466380.6:c.147T>C	ENSP00000420297.2:p.Thr49=
ENST00000648112.1:c.*170T>C	ENSP00000497876.1:n.*170T>C
ENST00000337940.4:c.264T>C	ENSP00000336528.4:p.Thr88=
ENST00000393716.6:c.147T>C	ENSP00000377319.2:p.Thr49=
ENST00000466380.5:c.147T>C	ENSP00000420297.1:p.Thr49=
ENST00000474090.1:n.435T>C
NM_003889.3:c.147T>C	NP_003880.3:p.Thr49=
NM_022002.2:c.264T>C	NP_071285.1:p.Thr88=
NM_033013.2:c.147T>C	NP_148934.1:p.Thr49=
NM_003889.4:c.147T>C MANE Select	NP_003880.3:p.Thr49=
NM_022002.3:c.264T>C	NP_071285.1:p.Thr88=
NM_033013.3:c.147T>C	NP_148934.1:p.Thr49=