Canonical Allele Identifier: CA463506188

Gene: CYP11B2 GML

Linked Data

• dbSNP Id: rs1446167015
• gnomAD v2: 8-143995704-T-C
• gnomAD v4: 8-142914288-T-C
• MyVariant Identifiers: chr8:g.143995704T>C (hg19) ; chr8:g.142914288T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142914288T>C , CM000670.2:g.142914288T>C	GRCh38
NC_000008.10:g.143995704T>C , CM000670.1:g.143995704T>C	GRCh37
NC_000008.9:g.143992706T>C	NCBI36
NG_008374.1:g.8556A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.930A>G (CYP11B2) MANE Select	ENSP00000325822.2:p.Glu310=
ENST00000522728.5:c.264+243T>C (GML)	ENSP00000430799.1:n.264+243T>C
NM_000498.3:c.930A>G (CYP11B2) MANE Select	NP_000489.3:p.Glu310=
XM_011516877.1:c.1008A>G (CYP11B2)	XP_011515179.1:p.Glu336=
XM_011516878.1:c.1008A>G (CYP11B2)	XP_011515180.1:p.Glu336=
XM_011516879.1:c.930A>G (CYP11B2)	XP_011515181.1:p.Glu310=
XM_011516970.1:c.297+243T>C (GML)	XP_011515272.1:n.297+243T>C