Canonical Allele Identifier: CA372388939
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.143995818C>A (hg19) chr8:g.142914402C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914402C>A , CM000670.2:g.142914402C>A GRCh38
NC_000008.10:g.143995818C>A , CM000670.1:g.143995818C>A GRCh37
NC_000008.9:g.143992820C>A NCBI36
NG_008374.1:g.8442G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.816G>T (CYP11B2) MANE Select ENSP00000325822.2:p.Gln272His
ENST00000522728.5:c.264+357C>A (GML) ENSP00000430799.1:n.264+357C>A
NM_000498.3:c.816G>T (CYP11B2) MANE Select NP_000489.3:p.Gln272His
XM_011516877.1:c.894G>T (CYP11B2) XP_011515179.1:p.Gln298His
XM_011516878.1:c.894G>T (CYP11B2) XP_011515180.1:p.Gln298His
XM_011516879.1:c.816G>T (CYP11B2) XP_011515181.1:p.Gln272His
XM_011516970.1:c.297+357C>A (GML) XP_011515272.1:n.297+357C>A
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