Canonical Allele Identifier: CA187456388
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

ClinVar Variation Id: 2914592
ClinVar RCV Id: RCV003735791
dbSNP Id: rs532824916
gnomAD v2: 8-143996105-G-A
gnomAD v3: 8-142914689-G-A
gnomAD v4: 8-142914689-G-A
MyVariant Identifiers: chr8:g.143996105G>A (hg19) chr8:g.142914689G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914689G>A , CM000670.2:g.142914689G>A GRCh38
NC_000008.10:g.143996105G>A , CM000670.1:g.143996105G>A GRCh37
NC_000008.9:g.143993107G>A NCBI36
NG_008374.1:g.8155C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.799+16C>T (CYP11B2) MANE Select ENSP00000325822.2:n.799+16C>T
ENST00000522728.5:c.264+644G>A (GML) ENSP00000430799.1:n.264+644G>A
NM_000498.3:c.799+16C>T (CYP11B2) MANE Select NP_000489.3:n.799+16C>T
XM_011516877.1:c.877+16C>T (CYP11B2) XP_011515179.1:n.877+16C>T
XM_011516878.1:c.877+16C>T (CYP11B2) XP_011515180.1:n.877+16C>T
XM_011516879.1:c.799+16C>T (CYP11B2) XP_011515181.1:n.799+16C>T
XM_011516970.1:c.297+644G>A (GML) XP_011515272.1:n.297+644G>A
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