Canonical Allele Identifier: CA1825515483

Gene: CYP11B2 GML

Linked Data

• ClinVar Variation Id: 2098081
• ClinVar RCV Id: RCV003030762
• dbSNP Id: rs1817596770

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142914323del , CM000670.2:g.142914323del	GRCh38
NC_000008.10:g.143995739del , CM000670.1:g.143995739del	GRCh37
NC_000008.9:g.143992741del	NCBI36
NG_008374.1:g.8521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323110.2:c.895del (CYP11B2) MANE Select	ENSP00000325822.2:p.Leu299CysfsTer3
ENST00000522728.5:c.264+278del (GML)	ENSP00000430799.1:n.264+278del
NM_000498.3:c.895del (CYP11B2) MANE Select	NP_000489.3:p.Leu299CysfsTer3
XM_011516877.1:c.973del (CYP11B2)	XP_011515179.1:p.Leu325CysfsTer3
XM_011516878.1:c.973del (CYP11B2)	XP_011515180.1:p.Leu325CysfsTer3
XM_011516879.1:c.895del (CYP11B2)	XP_011515181.1:p.Leu299CysfsTer3
XM_011516970.1:c.297+278del (GML)	XP_011515272.1:n.297+278del