Canonical Allele Identifier: CA372386028
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.143993978C>G (hg19) chr8:g.142912562C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142912562C>G , CM000670.2:g.142912562C>G GRCh38
NC_000008.10:g.143993978C>G , CM000670.1:g.143993978C>G GRCh37
NC_000008.9:g.143990980C>G NCBI36
NG_008374.1:g.10282G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000323110.2:c.1366G>C (CYP11B2) MANE Select ENSP00000325822.2:p.Ala456Pro
ENST00000522728.5:c.182-1401C>G (GML) ENSP00000430799.1:n.182-1401C>G
NM_000498.3:c.1366G>C (CYP11B2) MANE Select NP_000489.3:p.Ala456Pro
XM_011516877.1:c.1513G>C (CYP11B2) XP_011515179.1:p.Ala505Pro
XM_011516878.1:c.1444G>C (CYP11B2) XP_011515180.1:p.Ala482Pro
XM_011516879.1:c.1435G>C (CYP11B2) XP_011515181.1:p.Ala479Pro
XM_011516970.1:c.215-1401C>G (GML) XP_011515272.1:n.215-1401C>G
Search 100 bp 5'
Search 100 bp 3'