Canonical Allele Identifier: CA463506170
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

ClinVar Variation Id: 1539160
ClinVar RCV Id: RCV002162356
dbSNP Id: rs2130328691
MyVariant Identifiers: chr8:g.143995686C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914270C>T , CM000670.2:g.142914270C>T GRCh38
NC_000008.10:g.143995686C>T , CM000670.1:g.143995686C>T GRCh37
NC_000008.9:g.143992688C>T NCBI36
NG_008374.1:g.8574G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.948G>A (CYP11B2) MANE Select ENSP00000325822.2:p.Val316=
ENST00000522728.5:c.264+225C>T (GML) ENSP00000430799.1:n.264+225C>T
NM_000498.3:c.948G>A (CYP11B2) MANE Select NP_000489.3:p.Val316=
XM_011516877.1:c.1026G>A (CYP11B2) XP_011515179.1:p.Val342=
XM_011516878.1:c.1026G>A (CYP11B2) XP_011515180.1:p.Val342=
XM_011516879.1:c.948G>A (CYP11B2) XP_011515181.1:p.Val316=
XM_011516970.1:c.297+225C>T (GML) XP_011515272.1:n.297+225C>T
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