Canonical Allele Identifier: CA10620203

Gene: NR3C2

Linked Data

• ClinVar Variation Id: 347686
• ClinVar RCV Id: RCV000291913
• dbSNP Id: rs199601327
• gnomAD v2: 4-149000765-A-AAGAT
• gnomAD v3: 4-148079614-A-AAGAT
• gnomAD v4: 4-148079614-A-AAGAT
• MyVariant Identifiers: chr4:g.149000766_149000769dupAGAT (hg19) ; chr4:g.149000765_149000766insAGAT (hg19) ; chr4:g.148079615_148079618dupAGAT (hg38) ; chr4:g.148079614_148079615insAGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148079616_148079619dup , CM000666.2:g.148079616_148079619dup	GRCh38
NC_000004.11:g.149000767_149000770dup , CM000666.1:g.149000767_149000770dup	GRCh37
NC_000004.10:g.149220217_149220220dup	NCBI36
NG_013350.1:g.367904_367907dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358102.8:c.*1726_*1729dup MANE Select	ENSP00000350815.3:n.*1726_*1729dup
ENST00000344721.8:c.*1726_*1729dup	ENSP00000341390.4:n.*1726_*1729dup
ENST00000358102.7:c.*1726_*1729dup	ENSP00000350815.3:n.*1726_*1729dup
ENST00000625323.2:c.*1726_*1729dup	ENSP00000486719.1:n.*1726_*1729dup
NM_000901.4:c.*1726_*1729dup	NP_000892.2:n.*1726_*1729dup
NM_001166104.1:c.*1726_*1729dup	NP_001159576.1:n.*1726_*1729dup
XM_011531975.1:c.*1726_*1729dup	XP_011530277.1:n.*1726_*1729dup
XM_011531976.1:c.*1726_*1729dup	XP_011530278.1:n.*1726_*1729dup
XM_011531977.1:c.*1726_*1729dup	XP_011530279.1:n.*1726_*1729dup
NM_001354819.1:c.*1726_*1729dup	NP_001341748.1:n.*1726_*1729dup
NR_148974.1:n.4548_4551dup
NM_000901.5:c.*1726_*1729dup MANE Select	NP_000892.2:n.*1726_*1729dup
NM_001166104.2:c.*1726_*1729dup	NP_001159576.1:n.*1726_*1729dup
NR_148974.2:n.4442_4445dup