Canonical Allele Identifier: CA413272239

Gene: MAGED2

Linked Data

• MyVariant Identifiers: chrX:g.54838600T>G (hg19) ; chrX:g.54812167T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54812167T>G , CM000685.2:g.54812167T>G	GRCh38
NC_000023.10:g.54838600T>G , CM000685.1:g.54838600T>G	GRCh37
NC_000023.9:g.54855325T>G	NCBI36
NG_012844.1:g.9430T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.1001T>G MANE Select	ENSP00000364209.1:p.Ile334Ser
ENST00000218439.8:c.1001T>G	ENSP00000218439.4:p.Ile334Ser
ENST00000347546.8:c.947T>G	ENSP00000336962.4:p.Ile316Ser
ENST00000375053.6:c.1001T>G	ENSP00000364193.2:p.Ile334Ser
ENST00000375058.5:c.1001T>G	ENSP00000364198.1:p.Ile334Ser
ENST00000375060.5:c.746T>G	ENSP00000364200.1:p.Ile249Ser
ENST00000375068.5:c.1001T>G	ENSP00000364209.1:p.Ile334Ser
ENST00000396224.1:c.1001T>G	ENSP00000379526.1:p.Ile334Ser
ENST00000487482.5:n.133T>G
ENST00000627068.2:c.746T>G	ENSP00000486563.1:p.Ile249Ser
NM_014599.5:c.1001T>G	NP_055414.2:p.Ile334Ser
NM_177433.2:c.1001T>G	NP_803182.1:p.Ile334Ser
NM_201222.2:c.1001T>G	NP_957516.1:p.Ile334Ser
NM_177433.3:c.1001T>G MANE Select	NP_803182.1:p.Ile334Ser
NM_014599.6:c.1001T>G	NP_055414.2:p.Ile334Ser
NM_201222.3:c.1001T>G	NP_957516.1:p.Ile334Ser