Canonical Allele Identifier: CA413272280

Gene: MAGED2

Linked Data

• gnomAD v4: X-54812184-G-T
• COSMIC: COSM756823
• MyVariant Identifiers: chrX:g.54838617G>T (hg19) ; chrX:g.54812184G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54812184G>T , CM000685.2:g.54812184G>T	GRCh38
NC_000023.10:g.54838617G>T , CM000685.1:g.54838617G>T	GRCh37
NC_000023.9:g.54855342G>T	NCBI36
NG_012844.1:g.9447G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375068.6:c.1018G>T MANE Select	ENSP00000364209.1:p.Asp340Tyr
ENST00000218439.8:c.1018G>T	ENSP00000218439.4:p.Asp340Tyr
ENST00000347546.8:c.964G>T	ENSP00000336962.4:p.Asp322Tyr
ENST00000375053.6:c.1018G>T	ENSP00000364193.2:p.Asp340Tyr
ENST00000375058.5:c.1018G>T	ENSP00000364198.1:p.Asp340Tyr
ENST00000375060.5:c.763G>T	ENSP00000364200.1:p.Asp255Tyr
ENST00000375068.5:c.1018G>T	ENSP00000364209.1:p.Asp340Tyr
ENST00000396224.1:c.1018G>T	ENSP00000379526.1:p.Asp340Tyr
ENST00000487463.1:n.12G>T
ENST00000487482.5:n.150G>T
ENST00000627068.2:c.763G>T	ENSP00000486563.1:p.Asp255Tyr
NM_014599.5:c.1018G>T	NP_055414.2:p.Asp340Tyr
NM_177433.2:c.1018G>T	NP_803182.1:p.Asp340Tyr
NM_201222.2:c.1018G>T	NP_957516.1:p.Asp340Tyr
NM_177433.3:c.1018G>T MANE Select	NP_803182.1:p.Asp340Tyr
NM_014599.6:c.1018G>T	NP_055414.2:p.Asp340Tyr
NM_201222.3:c.1018G>T	NP_957516.1:p.Asp340Tyr