Canonical Allele Identifier: CA4905832

Gene: CYP11B2 GML

Linked Data

• dbSNP Id: rs771015512
• ExAC: 8:143993968 T / A
• gnomAD v2: 8-143993968-T-A
• gnomAD v4: 8-142912552-T-A
• MyVariant Identifiers: chr8:g.143993968T>A (hg19) ; chr8:g.142912552T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142912552T>A , CM000670.2:g.142912552T>A	GRCh38
NC_000008.10:g.143993968T>A , CM000670.1:g.143993968T>A	GRCh37
NC_000008.9:g.143990970T>A	NCBI36
NG_008374.1:g.10292A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000323110.2:c.1376A>T (CYP11B2) MANE Select	ENSP00000325822.2:p.Glu459Val
ENST00000522728.5:c.182-1411T>A (GML)	ENSP00000430799.1:n.182-1411T>A
NM_000498.3:c.1376A>T (CYP11B2) MANE Select	NP_000489.3:p.Glu459Val
XM_011516877.1:c.1523A>T (CYP11B2)	XP_011515179.1:p.Glu508Val
XM_011516878.1:c.1454A>T (CYP11B2)	XP_011515180.1:p.Glu485Val
XM_011516879.1:c.1445A>T (CYP11B2)	XP_011515181.1:p.Glu482Val
XM_011516970.1:c.215-1411T>A (GML)	XP_011515272.1:n.215-1411T>A