Canonical Allele Identifier: CA516691669

Gene: MAGED2

Linked Data

• gnomAD v4: X-54809976-G-A
• MyVariant Identifiers: chrX:g.54836409G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54809976G>A , CM000685.2:g.54809976G>A	GRCh38
NC_000023.10:g.54836409G>A , CM000685.1:g.54836409G>A	GRCh37
NC_000023.9:g.54853134G>A	NCBI36
NG_012844.1:g.7239G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.300G>A MANE Select	ENSP00000364209.1:p.Lys100=
ENST00000218439.8:c.300G>A	ENSP00000218439.4:p.Lys100=
ENST00000347546.8:c.246G>A	ENSP00000336962.4:p.Lys82=
ENST00000375053.6:c.300G>A	ENSP00000364193.2:p.Lys100=
ENST00000375058.5:c.300G>A	ENSP00000364198.1:p.Lys100=
ENST00000375060.5:c.186G>A	ENSP00000364200.1:p.Lys62=
ENST00000375068.5:c.300G>A	ENSP00000364209.1:p.Lys100=
ENST00000396224.1:c.300G>A	ENSP00000379526.1:p.Lys100=
ENST00000463787.5:n.123-142G>A
ENST00000485483.1:n.535G>A
ENST00000497484.1:n.443G>A
ENST00000627068.2:c.186G>A	ENSP00000486563.1:p.Lys62=
NM_014599.5:c.300G>A	NP_055414.2:p.Lys100=
NM_177433.2:c.300G>A	NP_803182.1:p.Lys100=
NM_201222.2:c.300G>A	NP_957516.1:p.Lys100=
NM_177433.3:c.300G>A MANE Select	NP_803182.1:p.Lys100=
NM_014599.6:c.300G>A	NP_055414.2:p.Lys100=
NM_201222.3:c.300G>A	NP_957516.1:p.Lys100=