Canonical Allele Identifier: CA10624975
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

ClinVar Variation Id: 362191
ClinVar RCV Id: RCV000301190 RCV000356040 RCV000393363
dbSNP Id: rs3097
gnomAD v2: 8-143993315-C-T
gnomAD v3: 8-142911899-C-T
gnomAD v4: 8-142911899-C-T
MyVariant Identifiers: chr8:g.143993315C>T (hg19) chr8:g.142911899C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142911899C>T , CM000670.2:g.142911899C>T GRCh38
NC_000008.10:g.143993315C>T , CM000670.1:g.143993315C>T GRCh37
NC_000008.9:g.143990317C>T NCBI36
NG_008374.1:g.10945G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000323110.2:c.*81G>A (CYP11B2) MANE Select ENSP00000325822.2:n.*81G>A
ENST00000522728.5:c.182-2064C>T (GML) ENSP00000430799.1:n.182-2064C>T
NM_000498.3:c.*81G>A (CYP11B2) MANE Select NP_000489.3:n.*81G>A
XM_011516877.1:c.*81G>A (CYP11B2) XP_011515179.1:n.*81G>A
XM_011516878.1:c.*81G>A (CYP11B2) XP_011515180.1:n.*81G>A
XM_011516879.1:c.*81G>A (CYP11B2) XP_011515181.1:n.*81G>A
XM_011516970.1:c.215-2064C>T (GML) XP_011515272.1:n.215-2064C>T
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