Canonical Allele Identifier: CA328937971

Gene: MAGED2

Linked Data

• ClinVar Variation Id: 2874012
• ClinVar RCV Id: RCV003712228
• dbSNP Id: rs760829080
• gnomAD v3: X-54809966-C-G
• gnomAD v4: X-54809966-C-G
• MyVariant Identifiers: chrX:g.54836399C>G (hg19) ; chrX:g.54809966C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54809966C>G , CM000685.2:g.54809966C>G	GRCh38
NC_000023.10:g.54836399C>G , CM000685.1:g.54836399C>G	GRCh37
NC_000023.9:g.54853124C>G	NCBI36
NG_012844.1:g.7229C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.290C>G MANE Select	ENSP00000364209.1:p.Ala97Gly
ENST00000218439.8:c.290C>G	ENSP00000218439.4:p.Ala97Gly
ENST00000347546.8:c.236C>G	ENSP00000336962.4:p.Ala79Gly
ENST00000375053.6:c.290C>G	ENSP00000364193.2:p.Ala97Gly
ENST00000375058.5:c.290C>G	ENSP00000364198.1:p.Ala97Gly
ENST00000375060.5:c.176C>G	ENSP00000364200.1:p.Ala59Gly
ENST00000375068.5:c.290C>G	ENSP00000364209.1:p.Ala97Gly
ENST00000396224.1:c.290C>G	ENSP00000379526.1:p.Ala97Gly
ENST00000463787.5:n.123-152C>G
ENST00000485483.1:n.525C>G
ENST00000497484.1:n.433C>G
ENST00000627068.2:c.176C>G	ENSP00000486563.1:p.Ala59Gly
NM_014599.5:c.290C>G	NP_055414.2:p.Ala97Gly
NM_177433.2:c.290C>G	NP_803182.1:p.Ala97Gly
NM_201222.2:c.290C>G	NP_957516.1:p.Ala97Gly
NM_177433.3:c.290C>G MANE Select	NP_803182.1:p.Ala97Gly
NM_014599.6:c.290C>G	NP_055414.2:p.Ala97Gly
NM_201222.3:c.290C>G	NP_957516.1:p.Ala97Gly