Canonical Allele Identifier: CA413265681
Gene: MAGED2 HGNC NCBI

Linked Data

gnomAD v4: X-54809969-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54809969A>G , CM000685.2:g.54809969A>G GRCh38
NC_000023.10:g.54836402A>G , CM000685.1:g.54836402A>G GRCh37
NC_000023.9:g.54853127A>G NCBI36
NG_012844.1:g.7232A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375068.6:c.293A>G MANE Select ENSP00000364209.1:p.Glu98Gly
ENST00000218439.8:c.293A>G ENSP00000218439.4:p.Glu98Gly
ENST00000347546.8:c.239A>G ENSP00000336962.4:p.Glu80Gly
ENST00000375053.6:c.293A>G ENSP00000364193.2:p.Glu98Gly
ENST00000375058.5:c.293A>G ENSP00000364198.1:p.Glu98Gly
ENST00000375060.5:c.179A>G ENSP00000364200.1:p.Glu60Gly
ENST00000375068.5:c.293A>G ENSP00000364209.1:p.Glu98Gly
ENST00000396224.1:c.293A>G ENSP00000379526.1:p.Glu98Gly
ENST00000463787.5:n.123-149A>G
ENST00000485483.1:n.528A>G
ENST00000497484.1:n.436A>G
ENST00000627068.2:c.179A>G ENSP00000486563.1:p.Glu60Gly
NM_014599.5:c.293A>G NP_055414.2:p.Glu98Gly
NM_177433.2:c.293A>G NP_803182.1:p.Glu98Gly
NM_201222.2:c.293A>G NP_957516.1:p.Glu98Gly
NM_177433.3:c.293A>G MANE Select NP_803182.1:p.Glu98Gly
NM_014599.6:c.293A>G NP_055414.2:p.Glu98Gly
NM_201222.3:c.293A>G NP_957516.1:p.Glu98Gly