Canonical Allele Identifier: CA463505864
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

dbSNP Id: rs1246757770
gnomAD v2: 8-143993982-G-T
gnomAD v3: 8-142912566-G-T
gnomAD v4: 8-142912566-G-T
MyVariant Identifiers: chr8:g.143993982G>T (hg19) chr8:g.142912566G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142912566G>T , CM000670.2:g.142912566G>T GRCh38
NC_000008.10:g.143993982G>T , CM000670.1:g.143993982G>T GRCh37
NC_000008.9:g.143990984G>T NCBI36
NG_008374.1:g.10278C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000323110.2:c.1362C>A (CYP11B2) MANE Select ENSP00000325822.2:p.Arg454=
ENST00000522728.5:c.182-1397G>T (GML) ENSP00000430799.1:n.182-1397G>T
NM_000498.3:c.1362C>A (CYP11B2) MANE Select NP_000489.3:p.Arg454=
XM_011516877.1:c.1509C>A (CYP11B2) XP_011515179.1:p.Arg503=
XM_011516878.1:c.1440C>A (CYP11B2) XP_011515180.1:p.Arg480=
XM_011516879.1:c.1431C>A (CYP11B2) XP_011515181.1:p.Arg477=
XM_011516970.1:c.215-1397G>T (GML) XP_011515272.1:n.215-1397G>T
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