Canonical Allele Identifier: CA413274148

Gene: MAGED2

Linked Data

• MyVariant Identifiers: chrX:g.54841162C>A (hg19) ; chrX:g.54814729C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54814729C>A , CM000685.2:g.54814729C>A	GRCh38
NC_000023.10:g.54841162C>A , CM000685.1:g.54841162C>A	GRCh37
NC_000023.9:g.54857887C>A	NCBI36
NG_012844.1:g.11992C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.1340C>A MANE Select	ENSP00000364209.1:p.Ser447Tyr
ENST00000218439.8:c.1340C>A	ENSP00000218439.4:p.Ser447Tyr
ENST00000347546.8:c.1286C>A	ENSP00000336962.4:p.Ser429Tyr
ENST00000375053.6:c.1340C>A	ENSP00000364193.2:p.Ser447Tyr
ENST00000375058.5:c.1340C>A	ENSP00000364198.1:p.Ser447Tyr
ENST00000375060.5:c.1085C>A	ENSP00000364200.1:p.Ser362Tyr
ENST00000375068.5:c.1340C>A	ENSP00000364209.1:p.Ser447Tyr
ENST00000396224.1:c.1340C>A	ENSP00000379526.1:p.Ser447Tyr
ENST00000627068.2:c.1085C>A	ENSP00000486563.1:p.Ser362Tyr
NM_014599.5:c.1340C>A	NP_055414.2:p.Ser447Tyr
NM_177433.2:c.1340C>A	NP_803182.1:p.Ser447Tyr
NM_201222.2:c.1340C>A	NP_957516.1:p.Ser447Tyr
NM_177433.3:c.1340C>A MANE Select	NP_803182.1:p.Ser447Tyr
NM_014599.6:c.1340C>A	NP_055414.2:p.Ser447Tyr
NM_201222.3:c.1340C>A	NP_957516.1:p.Ser447Tyr