Canonical Allele Identifier: CA2693855147
Gene: MAGED2 HGNC NCBI

Linked Data

gnomAD v4: X-54812107-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54812107C>A , CM000685.2:g.54812107C>A GRCh38
NC_000023.10:g.54838540C>A , CM000685.1:g.54838540C>A GRCh37
NC_000023.9:g.54855265C>A NCBI36
NG_012844.1:g.9370C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375068.6:c.991-50C>A MANE Select ENSP00000364209.1:n.991-50C>A
ENST00000218439.8:c.991-50C>A ENSP00000218439.4:n.991-50C>A
ENST00000347546.8:c.937-50C>A ENSP00000336962.4:n.937-50C>A
ENST00000375053.6:c.991-50C>A ENSP00000364193.2:n.991-50C>A
ENST00000375058.5:c.991-50C>A ENSP00000364198.1:n.991-50C>A
ENST00000375060.5:c.736-50C>A ENSP00000364200.1:n.736-50C>A
ENST00000375068.5:c.991-50C>A ENSP00000364209.1:n.991-50C>A
ENST00000396224.1:c.991-50C>A ENSP00000379526.1:n.991-50C>A
ENST00000487482.5:n.123-50C>A
ENST00000627068.2:c.736-50C>A ENSP00000486563.1:n.736-50C>A
NM_014599.5:c.991-50C>A NP_055414.2:n.991-50C>A
NM_177433.2:c.991-50C>A NP_803182.1:n.991-50C>A
NM_201222.2:c.991-50C>A NP_957516.1:n.991-50C>A
NM_177433.3:c.991-50C>A MANE Select NP_803182.1:n.991-50C>A
NM_014599.6:c.991-50C>A NP_055414.2:n.991-50C>A
NM_201222.3:c.991-50C>A NP_957516.1:n.991-50C>A