Canonical Allele Identifier: CA372388858
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

dbSNP Id: rs1563880641
gnomAD v3: 8-142914386-G-C
gnomAD v4: 8-142914386-G-C
MyVariant Identifiers: chr8:g.143995802G>C (hg19) chr8:g.142914386G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914386G>C , CM000670.2:g.142914386G>C GRCh38
NC_000008.10:g.143995802G>C , CM000670.1:g.143995802G>C GRCh37
NC_000008.9:g.143992804G>C NCBI36
NG_008374.1:g.8458C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.832C>G (CYP11B2) MANE Select ENSP00000325822.2:p.Leu278Val
ENST00000522728.5:c.264+341G>C (GML) ENSP00000430799.1:n.264+341G>C
NM_000498.3:c.832C>G (CYP11B2) MANE Select NP_000489.3:p.Leu278Val
XM_011516877.1:c.910C>G (CYP11B2) XP_011515179.1:p.Leu304Val
XM_011516878.1:c.910C>G (CYP11B2) XP_011515180.1:p.Leu304Val
XM_011516879.1:c.832C>G (CYP11B2) XP_011515181.1:p.Leu278Val
XM_011516970.1:c.297+341G>C (GML) XP_011515272.1:n.297+341G>C
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