Canonical Allele Identifier: CA463505868
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

gnomAD v4: 8-142912569-C-T
COSMIC: COSM5795791
MyVariant Identifiers: chr8:g.143993985C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142912569C>T , CM000670.2:g.142912569C>T GRCh38
NC_000008.10:g.143993985C>T , CM000670.1:g.143993985C>T GRCh37
NC_000008.9:g.143990987C>T NCBI36
NG_008374.1:g.10275G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.1359G>A (CYP11B2) MANE Select ENSP00000325822.2:p.Arg453=
ENST00000522728.5:c.182-1394C>T (GML) ENSP00000430799.1:n.182-1394C>T
NM_000498.3:c.1359G>A (CYP11B2) MANE Select NP_000489.3:p.Arg453=
XM_011516877.1:c.1506G>A (CYP11B2) XP_011515179.1:p.Arg502=
XM_011516878.1:c.1437G>A (CYP11B2) XP_011515180.1:p.Arg479=
XM_011516879.1:c.1428G>A (CYP11B2) XP_011515181.1:p.Arg476=
XM_011516970.1:c.215-1394C>T (GML) XP_011515272.1:n.215-1394C>T
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