Canonical Allele Identifier: CA2688873528
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

dbSNP Id: rs1464348026
gnomAD v4: 8-142914694-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914694C>A , CM000670.2:g.142914694C>A GRCh38
NC_000008.10:g.143996110C>A , CM000670.1:g.143996110C>A GRCh37
NC_000008.9:g.143993112C>A NCBI36
NG_008374.1:g.8150G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.799+11G>T (CYP11B2) MANE Select ENSP00000325822.2:n.799+11G>T
ENST00000522728.5:c.264+649C>A (GML) ENSP00000430799.1:n.264+649C>A
NM_000498.3:c.799+11G>T (CYP11B2) MANE Select NP_000489.3:n.799+11G>T
XM_011516877.1:c.877+11G>T (CYP11B2) XP_011515179.1:n.877+11G>T
XM_011516878.1:c.877+11G>T (CYP11B2) XP_011515180.1:n.877+11G>T
XM_011516879.1:c.799+11G>T (CYP11B2) XP_011515181.1:n.799+11G>T
XM_011516970.1:c.297+649C>A (GML) XP_011515272.1:n.297+649C>A
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