Canonical Allele Identifier: CA2672313851
Gene: NR3C2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148152532_148152535del , CM000666.2:g.148152532_148152535del GRCh38
NC_000004.11:g.149073683_149073686del , CM000666.1:g.149073683_149073686del GRCh37
NC_000004.10:g.149293133_149293136del NCBI36
NG_013350.1:g.294988_294991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358102.8:c.2445_2448del MANE Select ENSP00000350815.3:p.Ser815ArgfsTer18
ENST00000342437.8:c.2015-32246_2015-32243del ENSP00000343907.4:n.2015-32246_2015-32243del
ENST00000344721.8:c.2445_2448del ENSP00000341390.4:p.Ser815ArgfsTer18
ENST00000358102.7:c.2445_2448del ENSP00000350815.3:p.Ser815ArgfsTer18
ENST00000503174.1:n.374_377del
ENST00000503313.1:n.642_645del
ENST00000511528.1:c.2457_2460del ENSP00000421481.1:p.Ser819ArgfsTer18
ENST00000512865.5:c.2094_2097del ENSP00000423510.1:p.Ser698ArgfsTer18
ENST00000625323.2:c.2457_2460del ENSP00000486719.1:p.Ser819ArgfsTer18
NM_000901.4:c.2445_2448del NP_000892.2:p.Ser815ArgfsTer18
NM_001166104.1:c.2094_2097del NP_001159576.1:p.Ser698ArgfsTer18
XM_011531975.1:c.2457_2460del XP_011530277.1:p.Ser819ArgfsTer18
XM_011531976.1:c.2457_2460del XP_011530278.1:p.Ser819ArgfsTer18
XM_011531977.1:c.2457_2460del XP_011530279.1:p.Ser819ArgfsTer18
XM_011531978.1:c.2457_2460del XP_011530280.1:p.Ser819ArgfsTer18
NM_001354819.1:c.2094_2097del NP_001341748.1:p.Ser698ArgfsTer18
NR_148974.1:n.2378-32246_2378-32243del
XM_011531978.2:c.2457_2460del XP_011530280.1:p.Ser819ArgfsTer18
NM_000901.5:c.2445_2448del MANE Select NP_000892.2:p.Ser815ArgfsTer18
NM_001166104.2:c.2094_2097del NP_001159576.1:p.Ser698ArgfsTer18
NR_148974.2:n.2272-32246_2272-32243del