Canonical Allele Identifier: CA2688873532
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

gnomAD v4: 8-142914699-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914699C>A , CM000670.2:g.142914699C>A GRCh38
NC_000008.10:g.143996115C>A , CM000670.1:g.143996115C>A GRCh37
NC_000008.9:g.143993117C>A NCBI36
NG_008374.1:g.8145G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.799+6G>T (CYP11B2) MANE Select ENSP00000325822.2:n.799+6G>T
ENST00000522728.5:c.264+654C>A (GML) ENSP00000430799.1:n.264+654C>A
NM_000498.3:c.799+6G>T (CYP11B2) MANE Select NP_000489.3:n.799+6G>T
XM_011516877.1:c.877+6G>T (CYP11B2) XP_011515179.1:n.877+6G>T
XM_011516878.1:c.877+6G>T (CYP11B2) XP_011515180.1:n.877+6G>T
XM_011516879.1:c.799+6G>T (CYP11B2) XP_011515181.1:n.799+6G>T
XM_011516970.1:c.297+654C>A (GML) XP_011515272.1:n.297+654C>A
Search 100 bp 5'
Search 100 bp 3'