Canonical Allele Identifier: CA4906028
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

ClinVar Variation Id: 734006
ClinVar RCV Id: RCV000909376
dbSNP Id: rs201977505
ExAC: 8:143995671 T / C
gnomAD v2: 8-143995671-T-C
gnomAD v3: 8-142914255-T-C
gnomAD v4: 8-142914255-T-C
COSMIC: COSM6338838
MyVariant Identifiers: chr8:g.143995671T>C (hg19) chr8:g.142914255T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914255T>C , CM000670.2:g.142914255T>C GRCh38
NC_000008.10:g.143995671T>C , CM000670.1:g.143995671T>C GRCh37
NC_000008.9:g.143992673T>C NCBI36
NG_008374.1:g.8589A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.954+9A>G (CYP11B2) MANE Select ENSP00000325822.2:n.954+9A>G
ENST00000522728.5:c.264+210T>C (GML) ENSP00000430799.1:n.264+210T>C
NM_000498.3:c.954+9A>G (CYP11B2) MANE Select NP_000489.3:n.954+9A>G
XM_011516877.1:c.1032+9A>G (CYP11B2) XP_011515179.1:n.1032+9A>G
XM_011516878.1:c.1032+9A>G (CYP11B2) XP_011515180.1:n.1032+9A>G
XM_011516879.1:c.954+9A>G (CYP11B2) XP_011515181.1:n.954+9A>G
XM_011516970.1:c.297+210T>C (GML) XP_011515272.1:n.297+210T>C
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