Canonical Allele Identifier: CA2688873267
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

gnomAD v4: 8-142914273-GCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914275_142914276del , CM000670.2:g.142914275_142914276del GRCh38
NC_000008.10:g.143995691_143995692del , CM000670.1:g.143995691_143995692del GRCh37
NC_000008.9:g.143992693_143992694del NCBI36
NG_008374.1:g.8569_8570del

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.943_944del (CYP11B2) MANE Select ENSP00000325822.2:p.Ser315ArgfsTer14
ENST00000522728.5:c.264+230_264+231del (GML) ENSP00000430799.1:n.264+230_264+231del
NM_000498.3:c.943_944del (CYP11B2) MANE Select NP_000489.3:p.Ser315ArgfsTer14
XM_011516877.1:c.1021_1022del (CYP11B2) XP_011515179.1:p.Ser341ArgfsTer14
XM_011516878.1:c.1021_1022del (CYP11B2) XP_011515180.1:p.Ser341ArgfsTer14
XM_011516879.1:c.943_944del (CYP11B2) XP_011515181.1:p.Ser315ArgfsTer14
XM_011516970.1:c.297+230_297+231del (GML) XP_011515272.1:n.297+230_297+231del
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