Canonical Allele Identifier: CA119732
Gene: NR3C2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8557
ClinVar RCV Id: RCV000009088
dbSNP Id: rs41511344
COSMIC: COSM420178

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148152550G>A , CM000666.2:g.148152550G>A GRCh38
NC_000004.11:g.149073701G>A , CM000666.1:g.149073701G>A GRCh37
NC_000004.10:g.149293151G>A NCBI36
NG_013350.1:g.294972C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000358102.8:c.2429C>T MANE Select ENSP00000350815.3:p.Ser810Leu
ENST00000342437.8:c.2015-32262C>T ENSP00000343907.4:p.=
ENST00000344721.8:c.2429C>T ENSP00000341390.4:p.Ser810Leu
ENST00000358102.7:c.2429C>T ENSP00000350815.3:p.Ser810Leu
ENST00000503174.1:n.358C>T
ENST00000503313.1:n.626C>T
ENST00000511528.1:n.2441C>T ENSP00000421481.1:p.Ser814Leu
ENST00000512865.5:c.2078C>T ENSP00000423510.1:p.Ser693Leu
ENST00000625323.2:c.2441C>T ENSP00000486719.1:p.Ser814Leu
NM_000901.4:c.2429C>T NP_000892.2:p.Ser810Leu
NM_001166104.1:c.2078C>T NP_001159576.1:p.Ser693Leu
XM_011531975.1:c.2441C>T XP_011530277.1:p.Ser814Leu
XM_011531976.1:c.2441C>T XP_011530278.1:p.Ser814Leu
XM_011531977.1:c.2441C>T XP_011530279.1:p.Ser814Leu
XM_011531978.1:c.2441C>T XP_011530280.1:p.Ser814Leu
NM_001354819.1:c.2078C>T NP_001341748.1:p.Ser693Leu
NR_148974.1:n.2378-32262C>T
XM_011531978.2:c.2441C>T XP_011530280.1:p.Ser814Leu
NM_000901.5:c.2429C>T MANE Select NP_000892.2:p.Ser810Leu
NM_001166104.2:c.2078C>T NP_001159576.1:p.Ser693Leu
NR_148974.2:n.2272-32262C>T