Canonical Allele Identifier: CA119746
Gene: NR3C2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8567
ClinVar RCV Id: RCV000009098 RCV002496310
dbSNP Id: rs121912569
gnomAD v4: 4-148081460-G-A
MyVariant Identifiers: chr4:g.149002611G>A (hg19) chr4:g.148081460G>A (hg38)
PubMed: PMID:15126534 PMID:16757525
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000358102.8:c.2839C>T MANE Select ENSP00000350815.3:p.Arg947Ter
ENST00000342437.8:c.*222C>T ENSP00000343907.4:n.*222C>T
ENST00000344721.8:c.2839C>T ENSP00000341390.4:p.Arg947Ter
ENST00000358102.7:c.2839C>T ENSP00000350815.3:p.Arg947Ter
ENST00000511528.1:c.2851C>T ENSP00000421481.1:p.Arg951Ter
ENST00000512865.5:c.2488C>T ENSP00000423510.1:p.Arg830Ter
ENST00000625323.2:c.2851C>T ENSP00000486719.1:p.Arg951Ter
NM_000901.4:c.2839C>T NP_000892.2:p.Arg947Ter
NM_001166104.1:c.2488C>T NP_001159576.1:p.Arg830Ter
XM_011531975.1:c.2851C>T XP_011530277.1:p.Arg951Ter
XM_011531976.1:c.2851C>T XP_011530278.1:p.Arg951Ter
XM_011531977.1:c.2851C>T XP_011530279.1:p.Arg951Ter
NM_001354819.1:c.2488C>T NP_001341748.1:p.Arg830Ter
NR_148974.1:n.2706C>T
NM_000901.5:c.2839C>T MANE Select NP_000892.2:p.Arg947Ter
NM_001166104.2:c.2488C>T NP_001159576.1:p.Arg830Ter
NR_148974.2:n.2600C>T
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