Canonical Allele Identifier: CA413272249

Gene: MAGED2

Linked Data

• dbSNP Id: rs191668283
• gnomAD v2: X-54838605-T-A
• gnomAD v4: X-54812172-T-A
• MyVariant Identifiers: chrX:g.54838605T>A (hg19) ; chrX:g.54812172T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54812172T>A , CM000685.2:g.54812172T>A	GRCh38
NC_000023.10:g.54838605T>A , CM000685.1:g.54838605T>A	GRCh37
NC_000023.9:g.54855330T>A	NCBI36
NG_012844.1:g.9435T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375068.6:c.1006T>A MANE Select	ENSP00000364209.1:p.Leu336Met
ENST00000218439.8:c.1006T>A	ENSP00000218439.4:p.Leu336Met
ENST00000347546.8:c.952T>A	ENSP00000336962.4:p.Leu318Met
ENST00000375053.6:c.1006T>A	ENSP00000364193.2:p.Leu336Met
ENST00000375058.5:c.1006T>A	ENSP00000364198.1:p.Leu336Met
ENST00000375060.5:c.751T>A	ENSP00000364200.1:p.Leu251Met
ENST00000375068.5:c.1006T>A	ENSP00000364209.1:p.Leu336Met
ENST00000396224.1:c.1006T>A	ENSP00000379526.1:p.Leu336Met
ENST00000487482.5:n.138T>A
ENST00000627068.2:c.751T>A	ENSP00000486563.1:p.Leu251Met
NM_014599.5:c.1006T>A	NP_055414.2:p.Leu336Met
NM_177433.2:c.1006T>A	NP_803182.1:p.Leu336Met
NM_201222.2:c.1006T>A	NP_957516.1:p.Leu336Met
NM_177433.3:c.1006T>A MANE Select	NP_803182.1:p.Leu336Met
NM_014599.6:c.1006T>A	NP_055414.2:p.Leu336Met
NM_201222.3:c.1006T>A	NP_957516.1:p.Leu336Met