Canonical Allele Identifier: CA358425672
Gene: NR3C2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1809718
ClinVar RCV Id: RCV002505933

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148152522G>T , CM000666.2:g.148152522G>T GRCh38
NC_000004.11:g.149073673G>T , CM000666.1:g.149073673G>T GRCh37
NC_000004.10:g.149293123G>T NCBI36
NG_013350.1:g.295000C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358102.8:c.2457C>A MANE Select ENSP00000350815.3:p.Tyr819Ter
ENST00000342437.8:c.2015-32234C>A ENSP00000343907.4:n.2015-32234C>A
ENST00000344721.8:c.2457C>A ENSP00000341390.4:p.Tyr819Ter
ENST00000358102.7:c.2457C>A ENSP00000350815.3:p.Tyr819Ter
ENST00000503174.1:n.386C>A
ENST00000503313.1:n.654C>A
ENST00000511528.1:c.2469C>A ENSP00000421481.1:p.Tyr823Ter
ENST00000512865.5:c.2106C>A ENSP00000423510.1:p.Tyr702Ter
ENST00000625323.2:c.2469C>A ENSP00000486719.1:p.Tyr823Ter
NM_000901.4:c.2457C>A NP_000892.2:p.Tyr819Ter
NM_001166104.1:c.2106C>A NP_001159576.1:p.Tyr702Ter
XM_011531975.1:c.2469C>A XP_011530277.1:p.Tyr823Ter
XM_011531976.1:c.2469C>A XP_011530278.1:p.Tyr823Ter
XM_011531977.1:c.2469C>A XP_011530279.1:p.Tyr823Ter
XM_011531978.1:c.2469C>A XP_011530280.1:p.Tyr823Ter
NM_001354819.1:c.2106C>A NP_001341748.1:p.Tyr702Ter
NR_148974.1:n.2378-32234C>A
XM_011531978.2:c.2469C>A XP_011530280.1:p.Tyr823Ter
NM_000901.5:c.2457C>A MANE Select NP_000892.2:p.Tyr819Ter
NM_001166104.2:c.2106C>A NP_001159576.1:p.Tyr702Ter
NR_148974.2:n.2272-32234C>A