Canonical Allele Identifier: CA4906187

Gene: CYP11B2 GML

Linked Data

• ClinVar Variation Id: 362221
• ClinVar RCV Id: RCV000273968 ; RCV000331401 ; RCV000370864 ; RCV000615092 ; RCV001520474 ; RCV001271160
• dbSNP Id: rs4546
• ExAC: 8:143996553 G / A
• gnomAD v2: 8-143996553-G-A
• gnomAD v3: 8-142915137-G-A
• gnomAD v4: 8-142915137-G-A
• MyVariant Identifiers: chr8:g.143996553G>A (hg19) ; chr8:g.142915137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142915137G>A , CM000670.2:g.142915137G>A	GRCh38
NC_000008.10:g.143996553G>A , CM000670.1:g.143996553G>A	GRCh37
NC_000008.9:g.143993555G>A	NCBI36
NG_008374.1:g.7707C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.504C>T (CYP11B2) MANE Select	ENSP00000325822.2:p.Phe168=
ENST00000522728.5:c.264+1092G>A (GML)	ENSP00000430799.1:n.264+1092G>A
NM_000498.3:c.504C>T (CYP11B2) MANE Select	NP_000489.3:p.Phe168=
XM_011516877.1:c.582C>T (CYP11B2)	XP_011515179.1:p.Phe194=
XM_011516878.1:c.582C>T (CYP11B2)	XP_011515180.1:p.Phe194=
XM_011516879.1:c.504C>T (CYP11B2)	XP_011515181.1:p.Phe168=
XM_011516970.1:c.297+1092G>A (GML)	XP_011515272.1:n.297+1092G>A