Canonical Allele Identifier: CA585726918

Gene: CYP11B2 GML

Linked Data

• dbSNP Id: rs1435793696
• gnomAD v2: 8-143995640-G-C
• MyVariant Identifiers: chr8:g.143995640G>C (hg19) ; chr8:g.142914224G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142914224G>C , CM000670.2:g.142914224G>C	GRCh38
NC_000008.10:g.143995640G>C , CM000670.1:g.143995640G>C	GRCh37
NC_000008.9:g.143992642G>C	NCBI36
NG_008374.1:g.8620C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.954+40C>G (CYP11B2) MANE Select	ENSP00000325822.2:n.954+40C>G
ENST00000522728.5:c.264+179G>C (GML)	ENSP00000430799.1:n.264+179G>C
NM_000498.3:c.954+40C>G (CYP11B2) MANE Select	NP_000489.3:n.954+40C>G
XM_011516877.1:c.1032+40C>G (CYP11B2)	XP_011515179.1:n.1032+40C>G
XM_011516878.1:c.1032+40C>G (CYP11B2)	XP_011515180.1:n.1032+40C>G
XM_011516879.1:c.954+40C>G (CYP11B2)	XP_011515181.1:n.954+40C>G
XM_011516970.1:c.297+179G>C (GML)	XP_011515272.1:n.297+179G>C