Canonical Allele Identifier: CA413272235

Gene: MAGED2

Linked Data

• MyVariant Identifiers: chrX:g.54838599A>C (hg19) ; chrX:g.54812166A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54812166A>C , CM000685.2:g.54812166A>C	GRCh38
NC_000023.10:g.54838599A>C , CM000685.1:g.54838599A>C	GRCh37
NC_000023.9:g.54855324A>C	NCBI36
NG_012844.1:g.9429A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.1000A>C MANE Select	ENSP00000364209.1:p.Ile334Leu
ENST00000218439.8:c.1000A>C	ENSP00000218439.4:p.Ile334Leu
ENST00000347546.8:c.946A>C	ENSP00000336962.4:p.Ile316Leu
ENST00000375053.6:c.1000A>C	ENSP00000364193.2:p.Ile334Leu
ENST00000375058.5:c.1000A>C	ENSP00000364198.1:p.Ile334Leu
ENST00000375060.5:c.745A>C	ENSP00000364200.1:p.Ile249Leu
ENST00000375068.5:c.1000A>C	ENSP00000364209.1:p.Ile334Leu
ENST00000396224.1:c.1000A>C	ENSP00000379526.1:p.Ile334Leu
ENST00000487482.5:n.132A>C
ENST00000627068.2:c.745A>C	ENSP00000486563.1:p.Ile249Leu
NM_014599.5:c.1000A>C	NP_055414.2:p.Ile334Leu
NM_177433.2:c.1000A>C	NP_803182.1:p.Ile334Leu
NM_201222.2:c.1000A>C	NP_957516.1:p.Ile334Leu
NM_177433.3:c.1000A>C MANE Select	NP_803182.1:p.Ile334Leu
NM_014599.6:c.1000A>C	NP_055414.2:p.Ile334Leu
NM_201222.3:c.1000A>C	NP_957516.1:p.Ile334Leu