Canonical Allele Identifier: CA3100154
Community Standard Title: NM_000901.5(NR3C2):c.2139T>C (p.Pro713=)
Gene: NR3C2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148154777A>G , CM000666.2:g.148154777A>G GRCh38
NC_000004.11:g.149075928A>G , CM000666.1:g.149075928A>G GRCh37
NC_000004.10:g.149295378A>G NCBI36
NG_013350.1:g.292745T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000901.5:c.2139T>C MANE Select NP_000892.2:p.Pro713=
ENST00000358102.8:c.2139T>C MANE Select ENSP00000350815.3:p.Pro713=
NM_000901.4:c.2139T>C NP_000892.2:p.Pro713=
NM_001166104.1:c.2015-2164T>C NP_001159576.1:n.2015-2164T>C
NM_001166104.2:c.2015-2164T>C NP_001159576.1:n.2015-2164T>C
NM_001354819.1:c.2015-2164T>C NP_001341748.1:n.2015-2164T>C
NR_148974.1:n.2378-34489T>C
NR_148974.2:n.2272-34489T>C
ENST00000342437.8:c.2015-34489T>C ENSP00000343907.4:n.2015-34489T>C
ENST00000344721.8:c.2139T>C ENSP00000341390.4:p.Pro713=
ENST00000358102.7:c.2139T>C ENSP00000350815.3:p.Pro713=
ENST00000503174.1:n.68T>C
ENST00000503313.1:n.336T>C
ENST00000511528.1:c.2151T>C ENSP00000421481.1:p.Pro717=
ENST00000512865.5:c.2015-2164T>C ENSP00000423510.1:n.2015-2164T>C
ENST00000625323.2:c.2151T>C ENSP00000486719.1:p.Pro717=
XM_011531975.1:c.2151T>C XP_011530277.1:p.Pro717=
XM_011531976.1:c.2151T>C XP_011530278.1:p.Pro717=
XM_011531977.1:c.2151T>C XP_011530279.1:p.Pro717=
XM_011531978.1:c.2151T>C XP_011530280.1:p.Pro717=
XM_011531978.2:c.2151T>C XP_011530280.1:p.Pro717=