Canonical Allele Identifier: CA2579622989

Gene: MAGED2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54812162del , CM000685.2:g.54812162del	GRCh38
NC_000023.10:g.54838595del , CM000685.1:g.54838595del	GRCh37
NC_000023.9:g.54855320del	NCBI36
NG_012844.1:g.9425del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.996del MANE Select	ENSP00000364209.1:p.Phe332LeufsTer5
ENST00000218439.8:c.996del	ENSP00000218439.4:p.Phe332LeufsTer5
ENST00000347546.8:c.942del	ENSP00000336962.4:p.Phe314LeufsTer5
ENST00000375053.6:c.996del	ENSP00000364193.2:p.Phe332LeufsTer5
ENST00000375058.5:c.996del	ENSP00000364198.1:p.Phe332LeufsTer5
ENST00000375060.5:c.741del	ENSP00000364200.1:p.Phe247LeufsTer5
ENST00000375068.5:c.996del	ENSP00000364209.1:p.Phe332LeufsTer5
ENST00000396224.1:c.996del	ENSP00000379526.1:p.Phe332LeufsTer5
ENST00000487482.5:n.128del
ENST00000627068.2:c.741del	ENSP00000486563.1:p.Phe247LeufsTer5
NM_014599.5:c.996del	NP_055414.2:p.Phe332LeufsTer5
NM_177433.2:c.996del	NP_803182.1:p.Phe332LeufsTer5
NM_201222.2:c.996del	NP_957516.1:p.Phe332LeufsTer5
NM_177433.3:c.996del MANE Select	NP_803182.1:p.Phe332LeufsTer5
NM_014599.6:c.996del	NP_055414.2:p.Phe332LeufsTer5
NM_201222.3:c.996del	NP_957516.1:p.Phe332LeufsTer5