Canonical Allele Identifier: CA463506234

Gene: CYP11B2 GML

Linked Data

• ClinVar Variation Id: 2103012
• ClinVar RCV Id: RCV003028756
• gnomAD v4: 8-142914339-G-T
• MyVariant Identifiers: chr8:g.143995755G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142914339G>T , CM000670.2:g.142914339G>T	GRCh38
NC_000008.10:g.143995755G>T , CM000670.1:g.143995755G>T	GRCh37
NC_000008.9:g.143992757G>T	NCBI36
NG_008374.1:g.8505C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.879C>A (CYP11B2) MANE Select	ENSP00000325822.2:p.Leu293=
ENST00000522728.5:c.264+294G>T (GML)	ENSP00000430799.1:n.264+294G>T
NM_000498.3:c.879C>A (CYP11B2) MANE Select	NP_000489.3:p.Leu293=
XM_011516877.1:c.957C>A (CYP11B2)	XP_011515179.1:p.Leu319=
XM_011516878.1:c.957C>A (CYP11B2)	XP_011515180.1:p.Leu319=
XM_011516879.1:c.879C>A (CYP11B2)	XP_011515181.1:p.Leu293=
XM_011516970.1:c.297+294G>T (GML)	XP_011515272.1:n.297+294G>T