Canonical Allele Identifier: CA10627302

Gene: CYP11B2 GML

Linked Data

• ClinVar Variation Id: 362172
• ClinVar RCV Id: RCV000259490 ; RCV000298335 ; RCV000355582
• dbSNP Id: rs576148290
• gnomAD v2: 8-143992147-TGCG-T
• gnomAD v3: 8-142910731-TGCG-T
• gnomAD v4: 8-142910731-TGCG-T
• MyVariant Identifiers: chr8:g.143992148_143992150del (hg19) ; chr8:g.142910732_142910734del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142910733_142910735del , CM000670.2:g.142910733_142910735del	GRCh38
NC_000008.10:g.143992149_143992151del , CM000670.1:g.143992149_143992151del	GRCh37
NC_000008.9:g.143989151_143989153del	NCBI36
NG_008374.1:g.12110_12112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.*1246_*1248del (CYP11B2) MANE Select	ENSP00000325822.2:n.*1246_*1248del
ENST00000522728.5:c.182-3230_182-3228del (GML)	ENSP00000430799.1:n.182-3230_182-3228del
NM_000498.3:c.*1246_*1248del (CYP11B2) MANE Select	NP_000489.3:n.*1246_*1248del
XM_011516877.1:c.*1246_*1248del (CYP11B2)	XP_011515179.1:n.*1246_*1248del
XM_011516878.1:c.*1246_*1248del (CYP11B2)	XP_011515180.1:n.*1246_*1248del
XM_011516879.1:c.*1246_*1248del (CYP11B2)	XP_011515181.1:n.*1246_*1248del
XM_011516970.1:c.215-3230_215-3228del (GML)	XP_011515272.1:n.215-3230_215-3228del