Canonical Allele Identifier: CA463506164
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

ClinVar Variation Id: 2674688
ClinVar RCV Id: RCV003459932
dbSNP Id: rs760329766
gnomAD v2: 8-143995680-C-G
MyVariant Identifiers: chr8:g.143995680C>G (hg19) chr8:g.142914264C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914264C>G , CM000670.2:g.142914264C>G GRCh38
NC_000008.10:g.143995680C>G , CM000670.1:g.143995680C>G GRCh37
NC_000008.9:g.143992682C>G NCBI36
NG_008374.1:g.8580G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.954G>C (CYP11B2) MANE Select ENSP00000325822.2:p.Thr318=
ENST00000522728.5:c.264+219C>G (GML) ENSP00000430799.1:n.264+219C>G
NM_000498.3:c.954G>C (CYP11B2) MANE Select NP_000489.3:p.Thr318=
XM_011516877.1:c.1032G>C (CYP11B2) XP_011515179.1:p.Thr344=
XM_011516878.1:c.1032G>C (CYP11B2) XP_011515180.1:p.Thr344=
XM_011516879.1:c.954G>C (CYP11B2) XP_011515181.1:p.Thr318=
XM_011516970.1:c.297+219C>G (GML) XP_011515272.1:n.297+219C>G
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