Canonical Allele Identifier: CA4906033
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

ClinVar Variation Id: 2335488
ClinVar RCV Id: RCV002954522
dbSNP Id: rs374764229
ExAC: 8:143995688 C / T
gnomAD v2: 8-143995688-C-T
gnomAD v3: 8-142914272-C-T
gnomAD v4: 8-142914272-C-T
COSMIC: COSM2867830
MyVariant Identifiers: chr8:g.143995688C>T (hg19) chr8:g.142914272C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914272C>T , CM000670.2:g.142914272C>T GRCh38
NC_000008.10:g.143995688C>T , CM000670.1:g.143995688C>T GRCh37
NC_000008.9:g.143992690C>T NCBI36
NG_008374.1:g.8572G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.946G>A (CYP11B2) MANE Select ENSP00000325822.2:p.Val316Met
ENST00000522728.5:c.264+227C>T (GML) ENSP00000430799.1:n.264+227C>T
NM_000498.3:c.946G>A (CYP11B2) MANE Select NP_000489.3:p.Val316Met
XM_011516877.1:c.1024G>A (CYP11B2) XP_011515179.1:p.Val342Met
XM_011516878.1:c.1024G>A (CYP11B2) XP_011515180.1:p.Val342Met
XM_011516879.1:c.946G>A (CYP11B2) XP_011515181.1:p.Val316Met
XM_011516970.1:c.297+227C>T (GML) XP_011515272.1:n.297+227C>T
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