Canonical Allele Identifier: CA413272303

Gene: MAGED2

Linked Data

• MyVariant Identifiers: chrX:g.54838626G>A (hg19) ; chrX:g.54812193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54812193G>A , CM000685.2:g.54812193G>A	GRCh38
NC_000023.10:g.54838626G>A , CM000685.1:g.54838626G>A	GRCh37
NC_000023.9:g.54855351G>A	NCBI36
NG_012844.1:g.9456G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375068.6:c.1027G>A MANE Select	ENSP00000364209.1:p.Asp343Asn
ENST00000218439.8:c.1027G>A	ENSP00000218439.4:p.Asp343Asn
ENST00000347546.8:c.973G>A	ENSP00000336962.4:p.Asp325Asn
ENST00000375053.6:c.1027G>A	ENSP00000364193.2:p.Asp343Asn
ENST00000375058.5:c.1027G>A	ENSP00000364198.1:p.Asp343Asn
ENST00000375060.5:c.772G>A	ENSP00000364200.1:p.Asp258Asn
ENST00000375068.5:c.1027G>A	ENSP00000364209.1:p.Asp343Asn
ENST00000396224.1:c.1027G>A	ENSP00000379526.1:p.Asp343Asn
ENST00000487463.1:n.21G>A
ENST00000487482.5:n.159G>A
ENST00000627068.2:c.772G>A	ENSP00000486563.1:p.Asp258Asn
NM_014599.5:c.1027G>A	NP_055414.2:p.Asp343Asn
NM_177433.2:c.1027G>A	NP_803182.1:p.Asp343Asn
NM_201222.2:c.1027G>A	NP_957516.1:p.Asp343Asn
NM_177433.3:c.1027G>A MANE Select	NP_803182.1:p.Asp343Asn
NM_014599.6:c.1027G>A	NP_055414.2:p.Asp343Asn
NM_201222.3:c.1027G>A	NP_957516.1:p.Asp343Asn