Canonical Allele Identifier: CA585727024

Gene: CYP11B2 GML

Linked Data

• dbSNP Id: rs1292790971
• gnomAD v2: 8-143996089-C-A
• gnomAD v4: 8-142914673-C-A
• MyVariant Identifiers: chr8:g.143996089C>A (hg19) ; chr8:g.142914673C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142914673C>A , CM000670.2:g.142914673C>A	GRCh38
NC_000008.10:g.143996089C>A , CM000670.1:g.143996089C>A	GRCh37
NC_000008.9:g.143993091C>A	NCBI36
NG_008374.1:g.8171G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.799+32G>T (CYP11B2) MANE Select	ENSP00000325822.2:n.799+32G>T
ENST00000522728.5:c.264+628C>A (GML)	ENSP00000430799.1:n.264+628C>A
NM_000498.3:c.799+32G>T (CYP11B2) MANE Select	NP_000489.3:n.799+32G>T
XM_011516877.1:c.877+32G>T (CYP11B2)	XP_011515179.1:n.877+32G>T
XM_011516878.1:c.877+32G>T (CYP11B2)	XP_011515180.1:n.877+32G>T
XM_011516879.1:c.799+32G>T (CYP11B2)	XP_011515181.1:n.799+32G>T
XM_011516970.1:c.297+628C>A (GML)	XP_011515272.1:n.297+628C>A