Canonical Allele Identifier: CA354055834
Gene: NR1I2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807365C>G , CM000665.2:g.119807365C>G GRCh38
NC_000003.11:g.119526212C>G , CM000665.1:g.119526212C>G GRCh37
NC_000003.10:g.121008902C>G NCBI36
NG_011856.1:g.31882C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000393716.8:c.115C>G MANE Select ENSP00000377319.3:p.Gln39Glu
ENST00000466380.6:c.115C>G ENSP00000420297.2:p.Gln39Glu
ENST00000648112.1:c.*138C>G ENSP00000497876.1:n.*138C>G
ENST00000337940.4:c.232C>G ENSP00000336528.4:p.Gln78Glu
ENST00000393716.6:c.115C>G ENSP00000377319.2:p.Gln39Glu
ENST00000466380.5:c.115C>G ENSP00000420297.1:p.Gln39Glu
ENST00000474090.1:n.403C>G
NM_003889.3:c.115C>G NP_003880.3:p.Gln39Glu
NM_022002.2:c.232C>G NP_071285.1:p.Gln78Glu
NM_033013.2:c.115C>G NP_148934.1:p.Gln39Glu
NM_003889.4:c.115C>G MANE Select NP_003880.3:p.Gln39Glu
NM_022002.3:c.232C>G NP_071285.1:p.Gln78Glu
NM_033013.3:c.115C>G NP_148934.1:p.Gln39Glu