Canonical Allele Identifier: CA516582523

Gene: MAGED2

Linked Data

• MyVariant Identifiers: chrX:g.54841163T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54814730T>C , CM000685.2:g.54814730T>C	GRCh38
NC_000023.10:g.54841163T>C , CM000685.1:g.54841163T>C	GRCh37
NC_000023.9:g.54857888T>C	NCBI36
NG_012844.1:g.11993T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.1341T>C MANE Select	ENSP00000364209.1:p.Ser447=
ENST00000218439.8:c.1341T>C	ENSP00000218439.4:p.Ser447=
ENST00000347546.8:c.1287T>C	ENSP00000336962.4:p.Ser429=
ENST00000375053.6:c.1341T>C	ENSP00000364193.2:p.Ser447=
ENST00000375058.5:c.1341T>C	ENSP00000364198.1:p.Ser447=
ENST00000375060.5:c.1086T>C	ENSP00000364200.1:p.Ser362=
ENST00000375068.5:c.1341T>C	ENSP00000364209.1:p.Ser447=
ENST00000396224.1:c.1341T>C	ENSP00000379526.1:p.Ser447=
ENST00000627068.2:c.1086T>C	ENSP00000486563.1:p.Ser362=
NM_014599.5:c.1341T>C	NP_055414.2:p.Ser447=
NM_177433.2:c.1341T>C	NP_803182.1:p.Ser447=
NM_201222.2:c.1341T>C	NP_957516.1:p.Ser447=
NM_177433.3:c.1341T>C MANE Select	NP_803182.1:p.Ser447=
NM_014599.6:c.1341T>C	NP_055414.2:p.Ser447=
NM_201222.3:c.1341T>C	NP_957516.1:p.Ser447=