Canonical Allele Identifier: CA4906093
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

ClinVar Variation Id: 909610
ClinVar RCV Id: RCV001160764 RCV001160765 RCV001160766 RCV004032847
dbSNP Id: rs779486718
ExAC: 8:143996124 A / C
gnomAD v2: 8-143996124-A-C
gnomAD v4: 8-142914708-A-C
MyVariant Identifiers: chr8:g.143996124A>C (hg19) chr8:g.142914708A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914708A>C , CM000670.2:g.142914708A>C GRCh38
NC_000008.10:g.143996124A>C , CM000670.1:g.143996124A>C GRCh37
NC_000008.9:g.143993126A>C NCBI36
NG_008374.1:g.8136T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.796T>G (CYP11B2) MANE Select ENSP00000325822.2:p.Tyr266Asp
ENST00000522728.5:c.264+663A>C (GML) ENSP00000430799.1:n.264+663A>C
NM_000498.3:c.796T>G (CYP11B2) MANE Select NP_000489.3:p.Tyr266Asp
XM_011516877.1:c.874T>G (CYP11B2) XP_011515179.1:p.Tyr292Asp
XM_011516878.1:c.874T>G (CYP11B2) XP_011515180.1:p.Tyr292Asp
XM_011516879.1:c.796T>G (CYP11B2) XP_011515181.1:p.Tyr266Asp
XM_011516970.1:c.297+663A>C (GML) XP_011515272.1:n.297+663A>C
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