Canonical Allele Identifier: CA81747551

Gene: NR1I2

Linked Data

• dbSNP Id: rs577828856
• gnomAD v3: 3-119801332-T-C
• gnomAD v4: 3-119801332-T-C
• MyVariant Identifiers: chr3:g.119520179T>C (hg19) ; chr3:g.119801332T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119801332T>C , CM000665.2:g.119801332T>C	GRCh38
NC_000003.11:g.119520179T>C , CM000665.1:g.119520179T>C	GRCh37
NC_000003.10:g.121002869T>C	NCBI36
NG_011856.1:g.25849T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393716.8:c.-22-5897T>C MANE Select	ENSP00000377319.3:n.-22-5897T>C
ENST00000466380.6:c.-22-5897T>C	ENSP00000420297.2:n.-22-5897T>C
ENST00000648112.1:c.*2-5897T>C	ENSP00000497876.1:n.*2-5897T>C
ENST00000337940.4:c.96-5897T>C	ENSP00000336528.4:n.96-5897T>C
ENST00000393716.6:c.-22-5897T>C	ENSP00000377319.2:n.-22-5897T>C
ENST00000466380.5:c.-22-5897T>C	ENSP00000420297.1:n.-22-5897T>C
ENST00000474090.1:n.267-5897T>C
NM_003889.3:c.-22-5897T>C	NP_003880.3:n.-22-5897T>C
NM_022002.2:c.96-5897T>C	NP_071285.1:n.96-5897T>C
NM_033013.2:c.-22-5897T>C	NP_148934.1:n.-22-5897T>C
NM_003889.4:c.-22-5897T>C MANE Select	NP_003880.3:n.-22-5897T>C
NM_022002.3:c.96-5897T>C	NP_071285.1:n.96-5897T>C
NM_033013.3:c.-22-5897T>C	NP_148934.1:n.-22-5897T>C