Canonical Allele Identifier: CA3100100

Gene: NR3C2

Linked Data

• ClinVar Variation Id: 2329781
• ClinVar RCV Id: RCV002912320
• dbSNP Id: rs748855088
• ExAC: 4:149073656 T / C
• gnomAD v2: 4-149073656-T-C
• gnomAD v4: 4-148152505-T-C
• MyVariant Identifiers: chr4:g.149073656T>C (hg19) ; chr4:g.148152505T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148152505T>C , CM000666.2:g.148152505T>C	GRCh38
NC_000004.11:g.149073656T>C , CM000666.1:g.149073656T>C	GRCh37
NC_000004.10:g.149293106T>C	NCBI36
NG_013350.1:g.295017A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358102.8:c.2474A>G MANE Select	ENSP00000350815.3:p.Gln825Arg
ENST00000342437.8:c.2015-32217A>G	ENSP00000343907.4:n.2015-32217A>G
ENST00000344721.8:c.2474A>G	ENSP00000341390.4:p.Gln825Arg
ENST00000358102.7:c.2474A>G	ENSP00000350815.3:p.Gln825Arg
ENST00000503174.1:n.403A>G
ENST00000503313.1:n.671A>G
ENST00000511528.1:c.2486A>G	ENSP00000421481.1:p.Gln829Arg
ENST00000512865.5:c.2123A>G	ENSP00000423510.1:p.Gln708Arg
ENST00000625323.2:c.2486A>G	ENSP00000486719.1:p.Gln829Arg
NM_000901.4:c.2474A>G	NP_000892.2:p.Gln825Arg
NM_001166104.1:c.2123A>G	NP_001159576.1:p.Gln708Arg
XM_011531975.1:c.2486A>G	XP_011530277.1:p.Gln829Arg
XM_011531976.1:c.2486A>G	XP_011530278.1:p.Gln829Arg
XM_011531977.1:c.2486A>G	XP_011530279.1:p.Gln829Arg
XM_011531978.1:c.2486A>G	XP_011530280.1:p.Gln829Arg
NM_001354819.1:c.2123A>G	NP_001341748.1:p.Gln708Arg
NR_148974.1:n.2378-32217A>G
XM_011531978.2:c.2486A>G	XP_011530280.1:p.Gln829Arg
NM_000901.5:c.2474A>G MANE Select	NP_000892.2:p.Gln825Arg
NM_001166104.2:c.2123A>G	NP_001159576.1:p.Gln708Arg
NR_148974.2:n.2272-32217A>G