Canonical Allele Identifier: CA463505851
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

ClinVar Variation Id: 1955658
ClinVar RCV Id: RCV002720062
dbSNP Id: rs1387015546
gnomAD v2: 8-143993976-T-C
gnomAD v4: 8-142912560-T-C
MyVariant Identifiers: chr8:g.143993976T>C (hg19) chr8:g.142912560T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142912560T>C , CM000670.2:g.142912560T>C GRCh38
NC_000008.10:g.143993976T>C , CM000670.1:g.143993976T>C GRCh37
NC_000008.9:g.143990978T>C NCBI36
NG_008374.1:g.10284A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.1368A>G (CYP11B2) MANE Select ENSP00000325822.2:p.Ala456=
ENST00000522728.5:c.182-1403T>C (GML) ENSP00000430799.1:n.182-1403T>C
NM_000498.3:c.1368A>G (CYP11B2) MANE Select NP_000489.3:p.Ala456=
XM_011516877.1:c.1515A>G (CYP11B2) XP_011515179.1:p.Ala505=
XM_011516878.1:c.1446A>G (CYP11B2) XP_011515180.1:p.Ala482=
XM_011516879.1:c.1437A>G (CYP11B2) XP_011515181.1:p.Ala479=
XM_011516970.1:c.215-1403T>C (GML) XP_011515272.1:n.215-1403T>C
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