Canonical Allele Identifier: CA516691666
Gene: MAGED2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.54836400T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54809967T>G , CM000685.2:g.54809967T>G GRCh38
NC_000023.10:g.54836400T>G , CM000685.1:g.54836400T>G GRCh37
NC_000023.9:g.54853125T>G NCBI36
NG_012844.1:g.7230T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375068.6:c.291T>G MANE Select ENSP00000364209.1:p.Ala97=
ENST00000218439.8:c.291T>G ENSP00000218439.4:p.Ala97=
ENST00000347546.8:c.237T>G ENSP00000336962.4:p.Ala79=
ENST00000375053.6:c.291T>G ENSP00000364193.2:p.Ala97=
ENST00000375058.5:c.291T>G ENSP00000364198.1:p.Ala97=
ENST00000375060.5:c.177T>G ENSP00000364200.1:p.Ala59=
ENST00000375068.5:c.291T>G ENSP00000364209.1:p.Ala97=
ENST00000396224.1:c.291T>G ENSP00000379526.1:p.Ala97=
ENST00000463787.5:n.123-151T>G
ENST00000485483.1:n.526T>G
ENST00000497484.1:n.434T>G
ENST00000627068.2:c.177T>G ENSP00000486563.1:p.Ala59=
NM_014599.5:c.291T>G NP_055414.2:p.Ala97=
NM_177433.2:c.291T>G NP_803182.1:p.Ala97=
NM_201222.2:c.291T>G NP_957516.1:p.Ala97=
NM_177433.3:c.291T>G MANE Select NP_803182.1:p.Ala97=
NM_014599.6:c.291T>G NP_055414.2:p.Ala97=
NM_201222.3:c.291T>G NP_957516.1:p.Ala97=