Canonical Allele Identifier: CA463332156
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

ClinVar Variation Id: 1650793
ClinVar RCV Id: RCV002144580
dbSNP Id: rs2130329735
MyVariant Identifiers: chr8:g.143996137G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914721G>A , CM000670.2:g.142914721G>A GRCh38
NC_000008.10:g.143996137G>A , CM000670.1:g.143996137G>A GRCh37
NC_000008.9:g.143993139G>A NCBI36
NG_008374.1:g.8123C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.783C>T (CYP11B2) MANE Select ENSP00000325822.2:p.Asp261=
ENST00000522728.5:c.264+676G>A (GML) ENSP00000430799.1:n.264+676G>A
NM_000498.3:c.783C>T (CYP11B2) MANE Select NP_000489.3:p.Asp261=
XM_011516877.1:c.861C>T (CYP11B2) XP_011515179.1:p.Asp287=
XM_011516878.1:c.861C>T (CYP11B2) XP_011515180.1:p.Asp287=
XM_011516879.1:c.783C>T (CYP11B2) XP_011515181.1:p.Asp261=
XM_011516970.1:c.297+676G>A (GML) XP_011515272.1:n.297+676G>A
Search 100 bp 5'
Search 100 bp 3'