Canonical Allele Identifier: CA413272223

Gene: MAGED2

Linked Data

• gnomAD v4: X-54812161-T-A
• MyVariant Identifiers: chrX:g.54838594T>A (hg19) ; chrX:g.54812161T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54812161T>A , CM000685.2:g.54812161T>A	GRCh38
NC_000023.10:g.54838594T>A , CM000685.1:g.54838594T>A	GRCh37
NC_000023.9:g.54855319T>A	NCBI36
NG_012844.1:g.9424T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.995T>A MANE Select	ENSP00000364209.1:p.Phe332Tyr
ENST00000218439.8:c.995T>A	ENSP00000218439.4:p.Phe332Tyr
ENST00000347546.8:c.941T>A	ENSP00000336962.4:p.Phe314Tyr
ENST00000375053.6:c.995T>A	ENSP00000364193.2:p.Phe332Tyr
ENST00000375058.5:c.995T>A	ENSP00000364198.1:p.Phe332Tyr
ENST00000375060.5:c.740T>A	ENSP00000364200.1:p.Phe247Tyr
ENST00000375068.5:c.995T>A	ENSP00000364209.1:p.Phe332Tyr
ENST00000396224.1:c.995T>A	ENSP00000379526.1:p.Phe332Tyr
ENST00000487482.5:n.127T>A
ENST00000627068.2:c.740T>A	ENSP00000486563.1:p.Phe247Tyr
NM_014599.5:c.995T>A	NP_055414.2:p.Phe332Tyr
NM_177433.2:c.995T>A	NP_803182.1:p.Phe332Tyr
NM_201222.2:c.995T>A	NP_957516.1:p.Phe332Tyr
NM_177433.3:c.995T>A MANE Select	NP_803182.1:p.Phe332Tyr
NM_014599.6:c.995T>A	NP_055414.2:p.Phe332Tyr
NM_201222.3:c.995T>A	NP_957516.1:p.Phe332Tyr