Canonical Allele Identifier: CA372389102
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

ClinVar Variation Id: 2136711
ClinVar RCV Id: RCV003062184 RCV003459719
dbSNP Id: rs1160313950
gnomAD v2: 8-143996132-A-T
gnomAD v3: 8-142914716-A-T
gnomAD v4: 8-142914716-A-T
MyVariant Identifiers: chr8:g.143996132A>T (hg19) chr8:g.142914716A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914716A>T , CM000670.2:g.142914716A>T GRCh38
NC_000008.10:g.143996132A>T , CM000670.1:g.143996132A>T GRCh37
NC_000008.9:g.143993134A>T NCBI36
NG_008374.1:g.8128T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.788T>A (CYP11B2) MANE Select ENSP00000325822.2:p.Ile263Asn
ENST00000522728.5:c.264+671A>T (GML) ENSP00000430799.1:n.264+671A>T
NM_000498.3:c.788T>A (CYP11B2) MANE Select NP_000489.3:p.Ile263Asn
XM_011516877.1:c.866T>A (CYP11B2) XP_011515179.1:p.Ile289Asn
XM_011516878.1:c.866T>A (CYP11B2) XP_011515180.1:p.Ile289Asn
XM_011516879.1:c.788T>A (CYP11B2) XP_011515181.1:p.Ile263Asn
XM_011516970.1:c.297+671A>T (GML) XP_011515272.1:n.297+671A>T
Search 100 bp 5'
Search 100 bp 3'