Canonical Allele Identifier: CA463332247
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

ClinVar Variation Id: 1545041
ClinVar RCV Id: RCV002182488
dbSNP Id: rs1288724945
MyVariant Identifiers: chr8:g.143996164C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914748C>A , CM000670.2:g.142914748C>A GRCh38
NC_000008.10:g.143996164C>A , CM000670.1:g.143996164C>A GRCh37
NC_000008.9:g.143993166C>A NCBI36
NG_008374.1:g.8096G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.756G>T (CYP11B2) MANE Select ENSP00000325822.2:p.Val252=
ENST00000522728.5:c.264+703C>A (GML) ENSP00000430799.1:n.264+703C>A
NM_000498.3:c.756G>T (CYP11B2) MANE Select NP_000489.3:p.Val252=
XM_011516877.1:c.834G>T (CYP11B2) XP_011515179.1:p.Val278=
XM_011516878.1:c.834G>T (CYP11B2) XP_011515180.1:p.Val278=
XM_011516879.1:c.756G>T (CYP11B2) XP_011515181.1:p.Val252=
XM_011516970.1:c.297+703C>A (GML) XP_011515272.1:n.297+703C>A
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