Canonical Allele Identifier: CA372389133
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

dbSNP Id: rs1381134958
gnomAD v3: 8-142914728-G-A
gnomAD v4: 8-142914728-G-A
MyVariant Identifiers: chr8:g.143996144G>A (hg19) chr8:g.142914728G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914728G>A , CM000670.2:g.142914728G>A GRCh38
NC_000008.10:g.143996144G>A , CM000670.1:g.143996144G>A GRCh37
NC_000008.9:g.143993146G>A NCBI36
NG_008374.1:g.8116C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.776C>T (CYP11B2) MANE Select ENSP00000325822.2:p.Ala259Val
ENST00000522728.5:c.264+683G>A (GML) ENSP00000430799.1:n.264+683G>A
NM_000498.3:c.776C>T (CYP11B2) MANE Select NP_000489.3:p.Ala259Val
XM_011516877.1:c.854C>T (CYP11B2) XP_011515179.1:p.Ala285Val
XM_011516878.1:c.854C>T (CYP11B2) XP_011515180.1:p.Ala285Val
XM_011516879.1:c.776C>T (CYP11B2) XP_011515181.1:p.Ala259Val
XM_011516970.1:c.297+683G>A (GML) XP_011515272.1:n.297+683G>A
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