Canonical Allele Identifier: CA413265656

Gene: MAGED2

Linked Data

• gnomAD v4: X-54809965-G-T
• MyVariant Identifiers: chrX:g.54836398G>T (hg19) ; chrX:g.54809965G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54809965G>T , CM000685.2:g.54809965G>T	GRCh38
NC_000023.10:g.54836398G>T , CM000685.1:g.54836398G>T	GRCh37
NC_000023.9:g.54853123G>T	NCBI36
NG_012844.1:g.7228G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.289G>T MANE Select	ENSP00000364209.1:p.Ala97Ser
ENST00000218439.8:c.289G>T	ENSP00000218439.4:p.Ala97Ser
ENST00000347546.8:c.235G>T	ENSP00000336962.4:p.Ala79Ser
ENST00000375053.6:c.289G>T	ENSP00000364193.2:p.Ala97Ser
ENST00000375058.5:c.289G>T	ENSP00000364198.1:p.Ala97Ser
ENST00000375060.5:c.175G>T	ENSP00000364200.1:p.Ala59Ser
ENST00000375068.5:c.289G>T	ENSP00000364209.1:p.Ala97Ser
ENST00000396224.1:c.289G>T	ENSP00000379526.1:p.Ala97Ser
ENST00000463787.5:n.123-153G>T
ENST00000485483.1:n.524G>T
ENST00000497484.1:n.432G>T
ENST00000627068.2:c.175G>T	ENSP00000486563.1:p.Ala59Ser
NM_014599.5:c.289G>T	NP_055414.2:p.Ala97Ser
NM_177433.2:c.289G>T	NP_803182.1:p.Ala97Ser
NM_201222.2:c.289G>T	NP_957516.1:p.Ala97Ser
NM_177433.3:c.289G>T MANE Select	NP_803182.1:p.Ala97Ser
NM_014599.6:c.289G>T	NP_055414.2:p.Ala97Ser
NM_201222.3:c.289G>T	NP_957516.1:p.Ala97Ser