Canonical Allele Identifier: CA435219216
Gene: NR1I2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.119526115A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119807268A>G , CM000665.2:g.119807268A>G GRCh38
NC_000003.11:g.119526115A>G , CM000665.1:g.119526115A>G GRCh37
NC_000003.10:g.121008805A>G NCBI36
NG_011856.1:g.31785A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000393716.8:c.18A>G MANE Select ENSP00000377319.3:p.Lys6=
ENST00000466380.6:c.18A>G ENSP00000420297.2:p.Lys6=
ENST00000648112.1:c.*41A>G ENSP00000497876.1:n.*41A>G
ENST00000337940.4:c.135A>G ENSP00000336528.4:p.Lys45=
ENST00000393716.6:c.18A>G ENSP00000377319.2:p.Lys6=
ENST00000466380.5:c.18A>G ENSP00000420297.1:p.Lys6=
ENST00000474090.1:n.306A>G
NM_003889.3:c.18A>G NP_003880.3:p.Lys6=
NM_022002.2:c.135A>G NP_071285.1:p.Lys45=
NM_033013.2:c.18A>G NP_148934.1:p.Lys6=
NM_003889.4:c.18A>G MANE Select NP_003880.3:p.Lys6=
NM_022002.3:c.135A>G NP_071285.1:p.Lys45=
NM_033013.3:c.18A>G NP_148934.1:p.Lys6=