Canonical Allele Identifier: CA4906078

Gene: CYP11B2 GML

Linked Data

• dbSNP Id: rs754527445
• ExAC: 8:143995853 A / AGG
• gnomAD v2: 8-143995853-A-AGG
• gnomAD v3: 8-142914437-A-AGG
• gnomAD v4: 8-142914437-A-AGG
• MyVariant Identifiers: chr8:g.143995853_143995854insGG (hg19) ; chr8:g.142914437_142914438insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142914437_142914438insGG , CM000670.2:g.142914437_142914438insGG	GRCh38
NC_000008.10:g.143995853_143995854insGG , CM000670.1:g.143995853_143995854insGG	GRCh37
NC_000008.9:g.143992855_143992856insGG	NCBI36
NG_008374.1:g.8406_8407insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.800-20_800-19insCC (CYP11B2) MANE Select	ENSP00000325822.2:n.800-20_800-19insCC
ENST00000522728.5:c.264+392_264+393insGG (GML)	ENSP00000430799.1:n.264+392_264+393insGG
NM_000498.3:c.800-20_800-19insCC (CYP11B2) MANE Select	NP_000489.3:n.800-20_800-19insCC
XM_011516877.1:c.878-20_878-19insCC (CYP11B2)	XP_011515179.1:n.878-20_878-19insCC
XM_011516878.1:c.878-20_878-19insCC (CYP11B2)	XP_011515180.1:n.878-20_878-19insCC
XM_011516879.1:c.800-20_800-19insCC (CYP11B2)	XP_011515181.1:n.800-20_800-19insCC
XM_011516970.1:c.297+392_297+393insGG (GML)	XP_011515272.1:n.297+392_297+393insGG