Canonical Allele Identifier: CA372386055
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

dbSNP Id: rs1445122863
gnomAD v2: 8-143993983-C-T
gnomAD v3: 8-142912567-C-T
gnomAD v4: 8-142912567-C-T
COSMIC: COSM1202817
MyVariant Identifiers: chr8:g.143993983C>T (hg19) chr8:g.142912567C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142912567C>T , CM000670.2:g.142912567C>T GRCh38
NC_000008.10:g.143993983C>T , CM000670.1:g.143993983C>T GRCh37
NC_000008.9:g.143990985C>T NCBI36
NG_008374.1:g.10277G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000323110.2:c.1361G>A (CYP11B2) MANE Select ENSP00000325822.2:p.Arg454His
ENST00000522728.5:c.182-1396C>T (GML) ENSP00000430799.1:n.182-1396C>T
NM_000498.3:c.1361G>A (CYP11B2) MANE Select NP_000489.3:p.Arg454His
XM_011516877.1:c.1508G>A (CYP11B2) XP_011515179.1:p.Arg503His
XM_011516878.1:c.1439G>A (CYP11B2) XP_011515180.1:p.Arg480His
XM_011516879.1:c.1430G>A (CYP11B2) XP_011515181.1:p.Arg477His
XM_011516970.1:c.215-1396C>T (GML) XP_011515272.1:n.215-1396C>T
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