Canonical Allele Identifier: CA463332251

Gene: CYP11B2 GML

Linked Data

• dbSNP Id: rs1288724945
• gnomAD v2: 8-143996164-C-T
• gnomAD v4: 8-142914748-C-T
• MyVariant Identifiers: chr8:g.143996164C>T (hg19) ; chr8:g.142914748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142914748C>T , CM000670.2:g.142914748C>T	GRCh38
NC_000008.10:g.143996164C>T , CM000670.1:g.143996164C>T	GRCh37
NC_000008.9:g.143993166C>T	NCBI36
NG_008374.1:g.8096G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.756G>A (CYP11B2) MANE Select	ENSP00000325822.2:p.Val252=
ENST00000522728.5:c.264+703C>T (GML)	ENSP00000430799.1:n.264+703C>T
NM_000498.3:c.756G>A (CYP11B2) MANE Select	NP_000489.3:p.Val252=
XM_011516877.1:c.834G>A (CYP11B2)	XP_011515179.1:p.Val278=
XM_011516878.1:c.834G>A (CYP11B2)	XP_011515180.1:p.Val278=
XM_011516879.1:c.756G>A (CYP11B2)	XP_011515181.1:p.Val252=
XM_011516970.1:c.297+703C>T (GML)	XP_011515272.1:n.297+703C>T