Canonical Allele Identifier: CA1396724837
Community Standard Title: NM_003889.4(NR1I2):c.292C= (p.Arg98=)
Gene: NR1I2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119810155C= , CM000665.2:g.119810155C= GRCh38
NC_000003.11:g.119529002C= , CM000665.1:g.119529002C= GRCh37
NC_000003.10:g.121011692C= NCBI36
NG_011856.1:g.34672C=

Transcript Alleles

HGVS Amino-acid Change
NM_003889.4:c.292C= MANE Select NP_003880.3:p.Arg98=
ENST00000393716.8:c.292C= MANE Select ENSP00000377319.3:p.Arg98=
NM_003889.3:c.292C= NP_003880.3:p.Arg98=
NM_022002.2:c.409C= NP_071285.1:p.Arg137=
NM_022002.3:c.409C= NP_071285.1:p.Arg137=
NM_033013.2:c.292C= NP_148934.1:p.Arg98=
NM_033013.3:c.292C= NP_148934.1:p.Arg98=
ENST00000337940.4:c.409C= ENSP00000336528.4:p.Arg137=
ENST00000393716.6:c.292C= ENSP00000377319.2:p.Arg98=
ENST00000466380.5:c.292C= ENSP00000420297.1:p.Arg98=
ENST00000466380.6:c.292C= ENSP00000420297.2:p.Arg98=
ENST00000474090.1:n.580C=