Canonical Allele Identifier: CA3100543

Gene: NR3C2

Linked Data

• dbSNP Id: rs750108465
• ExAC: 4:149358042 TAG / T
• gnomAD v2: 4-149358042-TAG-T
• gnomAD v4: 4-148436890-TAG-T
• MyVariant Identifiers: chr4:g.149358043_149358044del (hg19) ; chr4:g.148436891_148436892del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148436893_148436894del , CM000666.2:g.148436893_148436894del	GRCh38
NC_000004.11:g.149358045_149358046del , CM000666.1:g.149358045_149358046del	GRCh37
NC_000004.10:g.149577495_149577496del	NCBI36
NG_013350.1:g.10629_10630del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358102.8:c.-2-30_-2-29del MANE Select	ENSP00000350815.3:n.-2-30_-2-29del
ENST00000342437.8:c.-2-30_-2-29del	ENSP00000343907.4:n.-2-30_-2-29del
ENST00000344721.8:c.-2-30_-2-29del	ENSP00000341390.4:n.-2-30_-2-29del
ENST00000358102.7:c.-2-30_-2-29del	ENSP00000350815.3:n.-2-30_-2-29del
ENST00000512865.5:c.-2-30_-2-29del	ENSP00000423510.1:n.-2-30_-2-29del
ENST00000625323.2:c.-2-30_-2-29del	ENSP00000486719.1:n.-2-30_-2-29del
NM_000901.4:c.-2-30_-2-29del	NP_000892.2:n.-2-30_-2-29del
NM_001166104.1:c.-2-30_-2-29del	NP_001159576.1:n.-2-30_-2-29del
XM_011531975.1:c.-2-30_-2-29del	XP_011530277.1:n.-2-30_-2-29del
XM_011531976.1:c.-2-30_-2-29del	XP_011530278.1:n.-2-30_-2-29del
XM_011531977.1:c.-2-30_-2-29del	XP_011530279.1:n.-2-30_-2-29del
XM_011531978.1:c.-2-30_-2-29del	XP_011530280.1:n.-2-30_-2-29del
NM_001354819.1:c.-2-30_-2-29del	NP_001341748.1:n.-2-30_-2-29del
NR_148974.1:n.362-30_362-29del
XM_011531978.2:c.-2-30_-2-29del	XP_011530280.1:n.-2-30_-2-29del
NM_000901.5:c.-2-30_-2-29del MANE Select	NP_000892.2:n.-2-30_-2-29del
NM_001166104.2:c.-2-30_-2-29del	NP_001159576.1:n.-2-30_-2-29del
NR_148974.2:n.256-30_256-29del