Canonical Allele Identifier: CA4905933

Gene: CYP11B2 GML

Linked Data

• ClinVar Variation Id: 362195
• ClinVar RCV Id: RCV000294441 ; RCV000334245 ; RCV000388744 ; RCV000614059 ; RCV001271152 ; RCV001511983
• dbSNP Id: rs4538
• ExAC: 8:143994702 G / T
• gnomAD v2: 8-143994702-G-T
• gnomAD v3: 8-142913286-G-T
• gnomAD v4: 8-142913286-G-T
• MyVariant Identifiers: chr8:g.143994702G>T (hg19) ; chr8:g.142913286G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142913286G>T , CM000670.2:g.142913286G>T	GRCh38
NC_000008.10:g.143994702G>T , CM000670.1:g.143994702G>T	GRCh37
NC_000008.9:g.143991704G>T	NCBI36
NG_008374.1:g.9558C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.1120C>A (CYP11B2) MANE Select	ENSP00000325822.2:p.Arg374=
ENST00000522728.5:c.182-677G>T (GML)	ENSP00000430799.1:n.182-677G>T
NM_000498.3:c.1120C>A (CYP11B2) MANE Select	NP_000489.3:p.Arg374=
XM_011516877.1:c.1198C>A (CYP11B2)	XP_011515179.1:p.Arg400=
XM_011516878.1:c.1198C>A (CYP11B2)	XP_011515180.1:p.Arg400=
XM_011516879.1:c.1120C>A (CYP11B2)	XP_011515181.1:p.Arg374=
XM_011516970.1:c.215-677G>T (GML)	XP_011515272.1:n.215-677G>T