Canonical Allele Identifier: CA1502331613
Community Standard Title: NM_000901.5(NR3C2):c.2839C= (p.Arg947=)
Gene: NR3C2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148081460G= , CM000666.2:g.148081460G= GRCh38
NC_000004.11:g.149002611G= , CM000666.1:g.149002611G= GRCh37
NC_000004.10:g.149222061G= NCBI36
NG_013350.1:g.366062C=

Transcript Alleles

HGVS Amino-acid Change
NM_000901.5:c.2839C= MANE Select NP_000892.2:p.Arg947=
ENST00000358102.8:c.2839C= MANE Select ENSP00000350815.3:p.Arg947=
NM_000901.4:c.2839C= NP_000892.2:p.Arg947=
NM_001166104.1:c.2488C= NP_001159576.1:p.Arg830=
NM_001166104.2:c.2488C= NP_001159576.1:p.Arg830=
NM_001354819.1:c.2488C= NP_001341748.1:p.Arg830=
NR_148974.1:n.2706C=
NR_148974.2:n.2600C=
ENST00000342437.8:c.*222C= ENSP00000343907.4:n.*222C=
ENST00000344721.8:c.2839C= ENSP00000341390.4:p.Arg947=
ENST00000358102.7:c.2839C= ENSP00000350815.3:p.Arg947=
ENST00000511528.1:c.2851C= ENSP00000421481.1:p.Arg951=
ENST00000512865.5:c.2488C= ENSP00000423510.1:p.Arg830=
ENST00000625323.2:c.2851C= ENSP00000486719.1:p.Arg951=
XM_011531975.1:c.2851C= XP_011530277.1:p.Arg951=
XM_011531976.1:c.2851C= XP_011530278.1:p.Arg951=
XM_011531977.1:c.2851C= XP_011530279.1:p.Arg951=