Canonical Allele Identifier: CA4906096
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

dbSNP Id: rs773983994
ExAC: 8:143996142 A / G
gnomAD v2: 8-143996142-A-G
gnomAD v4: 8-142914726-A-G
MyVariant Identifiers: chr8:g.143996142A>G (hg19) chr8:g.142914726A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914726A>G , CM000670.2:g.142914726A>G GRCh38
NC_000008.10:g.143996142A>G , CM000670.1:g.143996142A>G GRCh37
NC_000008.9:g.143993144A>G NCBI36
NG_008374.1:g.8118T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.778T>C (CYP11B2) MANE Select ENSP00000325822.2:p.Trp260Arg
ENST00000522728.5:c.264+681A>G (GML) ENSP00000430799.1:n.264+681A>G
NM_000498.3:c.778T>C (CYP11B2) MANE Select NP_000489.3:p.Trp260Arg
XM_011516877.1:c.856T>C (CYP11B2) XP_011515179.1:p.Trp286Arg
XM_011516878.1:c.856T>C (CYP11B2) XP_011515180.1:p.Trp286Arg
XM_011516879.1:c.778T>C (CYP11B2) XP_011515181.1:p.Trp260Arg
XM_011516970.1:c.297+681A>G (GML) XP_011515272.1:n.297+681A>G
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