Canonical Allele Identifier: CA10576211
Gene: MAGED2 HGNC NCBI

Linked Data

dbSNP Id: rs878854406
MyVariant Identifiers: chrX:g.54836495_54836496del (hg19) chrX:g.54810062_54810063del (hg38)
PubMed: PMID:9630034 PMID:27120771
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54810062_54810063del , CM000685.2:g.54810062_54810063del GRCh38
NC_000023.10:g.54836495_54836496del , CM000685.1:g.54836495_54836496del GRCh37
NC_000023.9:g.54853220_54853221del NCBI36
NG_012844.1:g.7325_7326del

Transcript Alleles

HGVS Amino-acid change
ENST00000375068.6:c.386_387del MANE Select ENSP00000364209.1:p.Val129GlyfsTer2
ENST00000218439.8:c.386_387del ENSP00000218439.4:p.Val129GlyfsTer2
ENST00000347546.8:c.332_333del ENSP00000336962.4:p.Val111GlyfsTer2
ENST00000375053.6:c.386_387del ENSP00000364193.2:p.Val129GlyfsTer2
ENST00000375058.5:c.386_387del ENSP00000364198.1:p.Val129GlyfsTer2
ENST00000375060.5:c.272_273del ENSP00000364200.1:p.Val91GlyfsTer2
ENST00000375068.5:c.386_387del ENSP00000364209.1:p.Val129GlyfsTer2
ENST00000396224.1:c.386_387del ENSP00000379526.1:p.Val129GlyfsTer2
ENST00000463787.5:n.123-56_123-55del
ENST00000485483.1:n.621_622del
ENST00000497484.1:n.529_530del
ENST00000627068.2:c.272_273del ENSP00000486563.1:p.Val91GlyfsTer2
NM_014599.5:c.386_387del NP_055414.2:p.Val129GlyfsTer2
NM_177433.2:c.386_387del NP_803182.1:p.Val129GlyfsTer2
NM_201222.2:c.386_387del NP_957516.1:p.Val129GlyfsTer2
NM_177433.3:c.386_387del MANE Select NP_803182.1:p.Val129GlyfsTer2
NM_014599.6:c.386_387del NP_055414.2:p.Val129GlyfsTer2
NM_201222.3:c.386_387del NP_957516.1:p.Val129GlyfsTer2
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