Canonical Allele Identifier: CA038796
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.142915100G>A
GRCh37 chr8:g.143996516G>A
Revel Score:
ENST00000323110 (MANE Select) 0.435
gnomAD v2:
8:143996516 G / A
gnomAD v3:
8:142915100 G / A
gnomAD v4:
chr8-142915100-G-A
Joint Max Group AF 0.0003238 (MID)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00034195 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142915100G>A , CM000670.2:g.142915100G>A GRCh38
NC_000008.10:g.143996516G>A , CM000670.1:g.143996516G>A GRCh37
NC_000008.9:g.143993518G>A NCBI36
NG_008374.1:g.7744C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.541C>T (CYP11B2) MANE Select ENSP00000325822.2:p.Arg181Trp
ENST00000522728.5:c.264+1055G>A (GML) ENSP00000430799.1:n.264+1055G>A
NM_000498.3:c.541C>T (CYP11B2) MANE Select NP_000489.3:p.Arg181Trp
XM_011516877.1:c.619C>T (CYP11B2) XP_011515179.1:p.Arg207Trp
XM_011516878.1:c.619C>T (CYP11B2) XP_011515180.1:p.Arg207Trp
XM_011516879.1:c.541C>T (CYP11B2) XP_011515181.1:p.Arg181Trp
XM_011516970.1:c.297+1055G>A (GML) XP_011515272.1:n.297+1055G>A
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