Canonical Allele Identifier: CA516581020

Gene: MAGED2

Linked Data

• gnomAD v4: X-54812162-T-C
• MyVariant Identifiers: chrX:g.54838595T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54812162T>C , CM000685.2:g.54812162T>C	GRCh38
NC_000023.10:g.54838595T>C , CM000685.1:g.54838595T>C	GRCh37
NC_000023.9:g.54855320T>C	NCBI36
NG_012844.1:g.9425T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.996T>C MANE Select	ENSP00000364209.1:p.Phe332=
ENST00000218439.8:c.996T>C	ENSP00000218439.4:p.Phe332=
ENST00000347546.8:c.942T>C	ENSP00000336962.4:p.Phe314=
ENST00000375053.6:c.996T>C	ENSP00000364193.2:p.Phe332=
ENST00000375058.5:c.996T>C	ENSP00000364198.1:p.Phe332=
ENST00000375060.5:c.741T>C	ENSP00000364200.1:p.Phe247=
ENST00000375068.5:c.996T>C	ENSP00000364209.1:p.Phe332=
ENST00000396224.1:c.996T>C	ENSP00000379526.1:p.Phe332=
ENST00000487482.5:n.128T>C
ENST00000627068.2:c.741T>C	ENSP00000486563.1:p.Phe247=
NM_014599.5:c.996T>C	NP_055414.2:p.Phe332=
NM_177433.2:c.996T>C	NP_803182.1:p.Phe332=
NM_201222.2:c.996T>C	NP_957516.1:p.Phe332=
NM_177433.3:c.996T>C MANE Select	NP_803182.1:p.Phe332=
NM_014599.6:c.996T>C	NP_055414.2:p.Phe332=
NM_201222.3:c.996T>C	NP_957516.1:p.Phe332=