Canonical Allele Identifier: CA2688875634
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

gnomAD v4: 8-142911854-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142911854G>C , CM000670.2:g.142911854G>C GRCh38
NC_000008.10:g.143993270G>C , CM000670.1:g.143993270G>C GRCh37
NC_000008.9:g.143990272G>C NCBI36
NG_008374.1:g.10990C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.*126C>G (CYP11B2) MANE Select ENSP00000325822.2:n.*126C>G
ENST00000522728.5:c.182-2109G>C (GML) ENSP00000430799.1:n.182-2109G>C
NM_000498.3:c.*126C>G (CYP11B2) MANE Select NP_000489.3:n.*126C>G
XM_011516877.1:c.*126C>G (CYP11B2) XP_011515179.1:n.*126C>G
XM_011516878.1:c.*126C>G (CYP11B2) XP_011515180.1:n.*126C>G
XM_011516879.1:c.*126C>G (CYP11B2) XP_011515181.1:n.*126C>G
XM_011516970.1:c.215-2109G>C (GML) XP_011515272.1:n.215-2109G>C
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