Canonical Allele Identifier: CA2557858
Gene: NR1I2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.119811650G>A
GRCh37 chr3:g.119530497G>A
Revel Score:
ENST00000393716 (MANE Select) 0.279
ENST00000466380 0.279
ENST00000337940 0.279
gnomAD v2:
3:119530497 G / A
gnomAD v3:
3:119811650 G / A
gnomAD v4:
chr3-119811650-G-A
Joint Max Group AF 0.00001746 (AFR)
Genomes Max Group AF 0.00000799 (AFR)
Exomes Max Group AF 0.00001627 (NFE)
dbSNP:
72551373
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119811650G>A , CM000665.2:g.119811650G>A GRCh38
NC_000003.11:g.119530497G>A , CM000665.1:g.119530497G>A GRCh37
NC_000003.10:g.121013187G>A NCBI36
NG_011856.1:g.36167G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.443G>A MANE Select ENSP00000377319.3:p.Arg148Gln
ENST00000466380.6:c.443G>A ENSP00000420297.2:p.Arg148Gln
ENST00000337940.4:c.560G>A ENSP00000336528.4:p.Arg187Gln
ENST00000393716.6:c.443G>A ENSP00000377319.2:p.Arg148Gln
ENST00000466380.5:c.443G>A ENSP00000420297.1:p.Arg148Gln
ENST00000493757.1:n.575G>A
NM_003889.3:c.443G>A NP_003880.3:p.Arg148Gln
NM_022002.2:c.560G>A NP_071285.1:p.Arg187Gln
NM_033013.2:c.443G>A NP_148934.1:p.Arg148Gln
NM_003889.4:c.443G>A MANE Select NP_003880.3:p.Arg148Gln
NM_022002.3:c.560G>A NP_071285.1:p.Arg187Gln
NM_033013.3:c.443G>A NP_148934.1:p.Arg148Gln
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