Canonical Allele Identifier: CA516582518

Gene: MAGED2

Linked Data

• dbSNP Id: rs1350289046
• gnomAD v2: X-54841160-C-T
• gnomAD v3: X-54814727-C-T
• gnomAD v4: X-54814727-C-T
• MyVariant Identifiers: chrX:g.54841160C>T (hg19) ; chrX:g.54814727C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54814727C>T , CM000685.2:g.54814727C>T	GRCh38
NC_000023.10:g.54841160C>T , CM000685.1:g.54841160C>T	GRCh37
NC_000023.9:g.54857885C>T	NCBI36
NG_012844.1:g.11990C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.1338C>T MANE Select	ENSP00000364209.1:p.Arg446=
ENST00000218439.8:c.1338C>T	ENSP00000218439.4:p.Arg446=
ENST00000347546.8:c.1284C>T	ENSP00000336962.4:p.Arg428=
ENST00000375053.6:c.1338C>T	ENSP00000364193.2:p.Arg446=
ENST00000375058.5:c.1338C>T	ENSP00000364198.1:p.Arg446=
ENST00000375060.5:c.1083C>T	ENSP00000364200.1:p.Arg361=
ENST00000375068.5:c.1338C>T	ENSP00000364209.1:p.Arg446=
ENST00000396224.1:c.1338C>T	ENSP00000379526.1:p.Arg446=
ENST00000627068.2:c.1083C>T	ENSP00000486563.1:p.Arg361=
NM_014599.5:c.1338C>T	NP_055414.2:p.Arg446=
NM_177433.2:c.1338C>T	NP_803182.1:p.Arg446=
NM_201222.2:c.1338C>T	NP_957516.1:p.Arg446=
NM_177433.3:c.1338C>T MANE Select	NP_803182.1:p.Arg446=
NM_014599.6:c.1338C>T	NP_055414.2:p.Arg446=
NM_201222.3:c.1338C>T	NP_957516.1:p.Arg446=