Canonical Allele Identifier: CA372388360
Gene: CYP11B2 HGNC NCBI
GML HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.143995684T>A (hg19) chr8:g.142914268T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142914268T>A , CM000670.2:g.142914268T>A GRCh38
NC_000008.10:g.143995684T>A , CM000670.1:g.143995684T>A GRCh37
NC_000008.9:g.143992686T>A NCBI36
NG_008374.1:g.8576A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323110.2:c.950A>T (CYP11B2) MANE Select ENSP00000325822.2:p.Asp317Val
ENST00000522728.5:c.264+223T>A (GML) ENSP00000430799.1:n.264+223T>A
NM_000498.3:c.950A>T (CYP11B2) MANE Select NP_000489.3:p.Asp317Val
XM_011516877.1:c.1028A>T (CYP11B2) XP_011515179.1:p.Asp343Val
XM_011516878.1:c.1028A>T (CYP11B2) XP_011515180.1:p.Asp343Val
XM_011516879.1:c.950A>T (CYP11B2) XP_011515181.1:p.Asp317Val
XM_011516970.1:c.297+223T>A (GML) XP_011515272.1:n.297+223T>A
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