Canonical Allele Identifier: CA187452848

Gene: CYP11B2 GML

Linked Data

• dbSNP Id: rs927096166
• gnomAD v4: 8-142911839-T-C
• MyVariant Identifiers: chr8:g.143993255T>C (hg19) ; chr8:g.142911839T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142911839T>C , CM000670.2:g.142911839T>C	GRCh38
NC_000008.10:g.143993255T>C , CM000670.1:g.143993255T>C	GRCh37
NC_000008.9:g.143990257T>C	NCBI36
NG_008374.1:g.11005A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000323110.2:c.*141A>G (CYP11B2) MANE Select	ENSP00000325822.2:n.*141A>G
ENST00000522728.5:c.182-2124T>C (GML)	ENSP00000430799.1:n.182-2124T>C
NM_000498.3:c.*141A>G (CYP11B2) MANE Select	NP_000489.3:n.*141A>G
XM_011516877.1:c.*141A>G (CYP11B2)	XP_011515179.1:n.*141A>G
XM_011516878.1:c.*141A>G (CYP11B2)	XP_011515180.1:n.*141A>G
XM_011516879.1:c.*141A>G (CYP11B2)	XP_011515181.1:n.*141A>G
XM_011516970.1:c.215-2124T>C (GML)	XP_011515272.1:n.215-2124T>C