Canonical Allele Identifier: CA2688873347
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

gnomAD v4: 8-142914541-T-TCAGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914553_142914557dup , CM000670.2:g.142914553_142914557dup GRCh38
NC_000008.10:g.143995969_143995973dup , CM000670.1:g.143995969_143995973dup GRCh37
NC_000008.9:g.143992971_143992975dup NCBI36
NG_008374.1:g.8298_8302dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.800-128_800-124dup (CYP11B2) MANE Select ENSP00000325822.2:n.800-128_800-124dup
ENST00000522728.5:c.264+508_264+512dup (GML) ENSP00000430799.1:n.264+508_264+512dup
NM_000498.3:c.800-128_800-124dup (CYP11B2) MANE Select NP_000489.3:n.800-128_800-124dup
XM_011516877.1:c.878-128_878-124dup (CYP11B2) XP_011515179.1:n.878-128_878-124dup
XM_011516878.1:c.878-128_878-124dup (CYP11B2) XP_011515180.1:n.878-128_878-124dup
XM_011516879.1:c.800-128_800-124dup (CYP11B2) XP_011515181.1:n.800-128_800-124dup
XM_011516970.1:c.297+508_297+512dup (GML) XP_011515272.1:n.297+508_297+512dup
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