Canonical Allele Identifier: CA1120128520
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

dbSNP Id: rs1817540464
gnomAD v3: 8-142911841-G-A
gnomAD v4: 8-142911841-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142911841G>A , CM000670.2:g.142911841G>A GRCh38
NC_000008.10:g.143993257G>A , CM000670.1:g.143993257G>A GRCh37
NC_000008.9:g.143990259G>A NCBI36
NG_008374.1:g.11003C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.*139C>T (CYP11B2) MANE Select ENSP00000325822.2:n.*139C>T
ENST00000522728.5:c.182-2122G>A (GML) ENSP00000430799.1:n.182-2122G>A
NM_000498.3:c.*139C>T (CYP11B2) MANE Select NP_000489.3:n.*139C>T
XM_011516877.1:c.*139C>T (CYP11B2) XP_011515179.1:n.*139C>T
XM_011516878.1:c.*139C>T (CYP11B2) XP_011515180.1:n.*139C>T
XM_011516879.1:c.*139C>T (CYP11B2) XP_011515181.1:n.*139C>T
XM_011516970.1:c.215-2122G>A (GML) XP_011515272.1:n.215-2122G>A
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