Canonical Allele Identifier: CA187453167

Gene: CYP11B2 GML

Linked Data

• dbSNP Id: rs1035099790
• gnomAD v2: 8-143993774-A-G
• gnomAD v3: 8-142912358-A-G
• gnomAD v4: 8-142912358-A-G
• MyVariant Identifiers: chr8:g.143993774A>G (hg19) ; chr8:g.142912358A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142912358A>G , CM000670.2:g.142912358A>G	GRCh38
NC_000008.10:g.143993774A>G , CM000670.1:g.143993774A>G	GRCh37
NC_000008.9:g.143990776A>G	NCBI36
NG_008374.1:g.10486T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323110.2:c.1398+172T>C (CYP11B2) MANE Select	ENSP00000325822.2:n.1398+172T>C
ENST00000522728.5:c.182-1605A>G (GML)	ENSP00000430799.1:n.182-1605A>G
NM_000498.3:c.1398+172T>C (CYP11B2) MANE Select	NP_000489.3:n.1398+172T>C
XM_011516877.1:c.1545+172T>C (CYP11B2)	XP_011515179.1:n.1545+172T>C
XM_011516878.1:c.1476+172T>C (CYP11B2)	XP_011515180.1:n.1476+172T>C
XM_011516879.1:c.1467+172T>C (CYP11B2)	XP_011515181.1:n.1467+172T>C
XM_011516970.1:c.215-1605A>G (GML)	XP_011515272.1:n.215-1605A>G