Canonical Allele Identifier: CA585727029
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

dbSNP Id: rs1216770446
gnomAD v2: 8-143996148-C-CA
gnomAD v3: 8-142914732-C-CA
gnomAD v4: 8-142914732-C-CA
MyVariant Identifiers: chr8:g.143996148_143996149insA (hg19) chr8:g.142914732_142914733insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914735dup , CM000670.2:g.142914735dup GRCh38
NC_000008.10:g.143996151dup , CM000670.1:g.143996151dup GRCh37
NC_000008.9:g.143993153dup NCBI36
NG_008374.1:g.8111dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.771dup (CYP11B2) MANE Select ENSP00000325822.2:p.Glu258Ter
ENST00000522728.5:c.264+690dup (GML) ENSP00000430799.1:n.264+690dup
NM_000498.3:c.771dup (CYP11B2) MANE Select NP_000489.3:p.Glu258Ter
XM_011516877.1:c.849dup (CYP11B2) XP_011515179.1:p.Glu284Ter
XM_011516878.1:c.849dup (CYP11B2) XP_011515180.1:p.Glu284Ter
XM_011516879.1:c.771dup (CYP11B2) XP_011515181.1:p.Glu258Ter
XM_011516970.1:c.297+690dup (GML) XP_011515272.1:n.297+690dup
Search 100 bp 5'
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