Canonical Allele Identifier: CA1120128523
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

dbSNP Id: rs1817540720
gnomAD v4: 8-142911850-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142911850A>T , CM000670.2:g.142911850A>T GRCh38
NC_000008.10:g.143993266A>T , CM000670.1:g.143993266A>T GRCh37
NC_000008.9:g.143990268A>T NCBI36
NG_008374.1:g.10994T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000323110.2:c.*130T>A (CYP11B2) MANE Select ENSP00000325822.2:n.*130T>A
ENST00000522728.5:c.182-2113A>T (GML) ENSP00000430799.1:n.182-2113A>T
NM_000498.3:c.*130T>A (CYP11B2) MANE Select NP_000489.3:n.*130T>A
XM_011516877.1:c.*130T>A (CYP11B2) XP_011515179.1:n.*130T>A
XM_011516878.1:c.*130T>A (CYP11B2) XP_011515180.1:n.*130T>A
XM_011516879.1:c.*130T>A (CYP11B2) XP_011515181.1:n.*130T>A
XM_011516970.1:c.215-2113A>T (GML) XP_011515272.1:n.215-2113A>T
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