Canonical Allele Identifier: CA4906091
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

dbSNP Id: rs745722970
ExAC: 8:143996121 C / T
gnomAD v2: 8-143996121-C-T
gnomAD v3: 8-142914705-C-T
gnomAD v4: 8-142914705-C-T
MyVariant Identifiers: chr8:g.143996121C>T (hg19) chr8:g.142914705C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914705C>T , CM000670.2:g.142914705C>T GRCh38
NC_000008.10:g.143996121C>T , CM000670.1:g.143996121C>T GRCh37
NC_000008.9:g.143993123C>T NCBI36
NG_008374.1:g.8139G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.799G>A (CYP11B2) MANE Select ENSP00000325822.2:p.Gly267Ser
ENST00000522728.5:c.264+660C>T (GML) ENSP00000430799.1:n.264+660C>T
NM_000498.3:c.799G>A (CYP11B2) MANE Select NP_000489.3:p.Gly267Ser
XM_011516877.1:c.877G>A (CYP11B2) XP_011515179.1:p.Gly293Ser
XM_011516878.1:c.877G>A (CYP11B2) XP_011515180.1:p.Gly293Ser
XM_011516879.1:c.799G>A (CYP11B2) XP_011515181.1:p.Gly267Ser
XM_011516970.1:c.297+660C>T (GML) XP_011515272.1:n.297+660C>T
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