Canonical Allele Identifier: CA372388466
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.143995709T>G (hg19) chr8:g.142914293T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914293T>G , CM000670.2:g.142914293T>G GRCh38
NC_000008.10:g.143995709T>G , CM000670.1:g.143995709T>G GRCh37
NC_000008.9:g.143992711T>G NCBI36
NG_008374.1:g.8551A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.925A>C (CYP11B2) MANE Select ENSP00000325822.2:p.Met309Leu
ENST00000522728.5:c.264+248T>G (GML) ENSP00000430799.1:n.264+248T>G
NM_000498.3:c.925A>C (CYP11B2) MANE Select NP_000489.3:p.Met309Leu
XM_011516877.1:c.1003A>C (CYP11B2) XP_011515179.1:p.Met335Leu
XM_011516878.1:c.1003A>C (CYP11B2) XP_011515180.1:p.Met335Leu
XM_011516879.1:c.925A>C (CYP11B2) XP_011515181.1:p.Met309Leu
XM_011516970.1:c.297+248T>G (GML) XP_011515272.1:n.297+248T>G
Search 100 bp 5'
Search 100 bp 3'