Canonical Allele Identifier: CA4905830
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

dbSNP Id: rs776404064
ExAC: 8:143993950 TGCA / T
gnomAD v2: 8-143993950-TGCA-T
gnomAD v3: 8-142912534-TGCA-T
gnomAD v4: 8-142912534-TGCA-T
COSMIC: COSM5076771
MyVariant Identifiers: chr8:g.143993951_143993953del (hg19) chr8:g.142912535_142912537del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142912547_142912549del , CM000670.2:g.142912547_142912549del GRCh38
NC_000008.10:g.143993963_143993965del , CM000670.1:g.143993963_143993965del GRCh37
NC_000008.9:g.143990965_143990967del NCBI36
NG_008374.1:g.10307_10309del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.1391_1393del (CYP11B2) MANE Select ENSP00000325822.2:p.Leu464del
ENST00000522728.5:c.182-1416_182-1414del (GML) ENSP00000430799.1:n.182-1416_182-1414del
NM_000498.3:c.1391_1393del (CYP11B2) MANE Select NP_000489.3:p.Leu464del
XM_011516877.1:c.1538_1540del (CYP11B2) XP_011515179.1:p.Leu513del
XM_011516878.1:c.1469_1471del (CYP11B2) XP_011515180.1:p.Leu490del
XM_011516879.1:c.1460_1462del (CYP11B2) XP_011515181.1:p.Leu487del
XM_011516970.1:c.215-1416_215-1414del (GML) XP_011515272.1:n.215-1416_215-1414del
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