Canonical Allele Identifier: CA585385766
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

dbSNP Id: rs1413755137
gnomAD v2: 8-143993329-CAG-C
gnomAD v3: 8-142911913-CAG-C
gnomAD v4: 8-142911913-CAG-C
MyVariant Identifiers: chr8:g.143993330_143993331del (hg19) chr8:g.142911914_142911915del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142911914_142911915del , CM000670.2:g.142911914_142911915del GRCh38
NC_000008.10:g.143993330_143993331del , CM000670.1:g.143993330_143993331del GRCh37
NC_000008.9:g.143990332_143990333del NCBI36
NG_008374.1:g.10929_10930del

Transcript Alleles

HGVS Amino-acid change
ENST00000323110.2:c.*65_*66del (CYP11B2) MANE Select ENSP00000325822.2:n.*65_*66del
ENST00000522728.5:c.182-2049_182-2048del (GML) ENSP00000430799.1:n.182-2049_182-2048del
NM_000498.3:c.*65_*66del (CYP11B2) MANE Select NP_000489.3:n.*65_*66del
XM_011516877.1:c.*65_*66del (CYP11B2) XP_011515179.1:n.*65_*66del
XM_011516878.1:c.*65_*66del (CYP11B2) XP_011515180.1:n.*65_*66del
XM_011516879.1:c.*65_*66del (CYP11B2) XP_011515181.1:n.*65_*66del
XM_011516970.1:c.215-2049_215-2048del (GML) XP_011515272.1:n.215-2049_215-2048del
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