Canonical Allele Identifier: CA372386019
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.143993977G>C (hg19) chr8:g.142912561G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142912561G>C , CM000670.2:g.142912561G>C GRCh38
NC_000008.10:g.143993977G>C , CM000670.1:g.143993977G>C GRCh37
NC_000008.9:g.143990979G>C NCBI36
NG_008374.1:g.10283C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.1367C>G (CYP11B2) MANE Select ENSP00000325822.2:p.Ala456Gly
ENST00000522728.5:c.182-1402G>C (GML) ENSP00000430799.1:n.182-1402G>C
NM_000498.3:c.1367C>G (CYP11B2) MANE Select NP_000489.3:p.Ala456Gly
XM_011516877.1:c.1514C>G (CYP11B2) XP_011515179.1:p.Ala505Gly
XM_011516878.1:c.1445C>G (CYP11B2) XP_011515180.1:p.Ala482Gly
XM_011516879.1:c.1436C>G (CYP11B2) XP_011515181.1:p.Ala479Gly
XM_011516970.1:c.215-1402G>C (GML) XP_011515272.1:n.215-1402G>C
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