Canonical Allele Identifier: CA2688873539
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

gnomAD v4: 8-142914738-GCTC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914741_142914743del , CM000670.2:g.142914741_142914743del GRCh38
NC_000008.10:g.143996157_143996159del , CM000670.1:g.143996157_143996159del GRCh37
NC_000008.9:g.143993159_143993161del NCBI36
NG_008374.1:g.8103_8105del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.763_765del (CYP11B2) MANE Select ENSP00000325822.2:p.Glu255del
ENST00000522728.5:c.264+696_264+698del (GML) ENSP00000430799.1:n.264+696_264+698del
NM_000498.3:c.763_765del (CYP11B2) MANE Select NP_000489.3:p.Glu255del
XM_011516877.1:c.841_843del (CYP11B2) XP_011515179.1:p.Glu281del
XM_011516878.1:c.841_843del (CYP11B2) XP_011515180.1:p.Glu281del
XM_011516879.1:c.763_765del (CYP11B2) XP_011515181.1:p.Glu255del
XM_011516970.1:c.297+696_297+698del (GML) XP_011515272.1:n.297+696_297+698del
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