Canonical Allele Identifier: CA354058289
Gene: NR1I2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000393716.8:c.443G>C MANE Select ENSP00000377319.3:p.Arg148Pro
ENST00000466380.6:c.443G>C ENSP00000420297.2:p.Arg148Pro
ENST00000337940.4:c.560G>C ENSP00000336528.4:p.Arg187Pro
ENST00000393716.6:c.443G>C ENSP00000377319.2:p.Arg148Pro
ENST00000466380.5:c.443G>C ENSP00000420297.1:p.Arg148Pro
ENST00000493757.1:n.575G>C
NM_003889.3:c.443G>C NP_003880.3:p.Arg148Pro
NM_022002.2:c.560G>C NP_071285.1:p.Arg187Pro
NM_033013.2:c.443G>C NP_148934.1:p.Arg148Pro
NM_003889.4:c.443G>C MANE Select NP_003880.3:p.Arg148Pro
NM_022002.3:c.560G>C NP_071285.1:p.Arg187Pro
NM_033013.3:c.443G>C NP_148934.1:p.Arg148Pro