Canonical Allele Identifier: CA645369754

Gene: MAGED2

Linked Data

• ClinVar Variation Id: 242888
• ClinVar RCV Id: RCV000491895
• dbSNP Id: rs1114167295
• MyVariant Identifiers: chrX:g.54838602del (hg19) ; chrX:g.54812169del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54812169del , CM000685.2:g.54812169del	GRCh38
NC_000023.10:g.54838602del , CM000685.1:g.54838602del	GRCh37
NC_000023.9:g.54855327del	NCBI36
NG_012844.1:g.9432del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.1003del MANE Select	ENSP00000364209.1:p.Gln335AsnfsTer2
ENST00000218439.8:c.1003del	ENSP00000218439.4:p.Gln335AsnfsTer2
ENST00000347546.8:c.949del	ENSP00000336962.4:p.Gln317AsnfsTer2
ENST00000375053.6:c.1003del	ENSP00000364193.2:p.Gln335AsnfsTer2
ENST00000375058.5:c.1003del	ENSP00000364198.1:p.Gln335AsnfsTer2
ENST00000375060.5:c.748del	ENSP00000364200.1:p.Gln250AsnfsTer2
ENST00000375068.5:c.1003del	ENSP00000364209.1:p.Gln335AsnfsTer2
ENST00000396224.1:c.1003del	ENSP00000379526.1:p.Gln335AsnfsTer2
ENST00000487482.5:n.135del
ENST00000627068.2:c.748del	ENSP00000486563.1:p.Gln250AsnfsTer2
NM_014599.5:c.1003del	NP_055414.2:p.Gln335AsnfsTer2
NM_177433.2:c.1003del	NP_803182.1:p.Gln335AsnfsTer2
NM_201222.2:c.1003del	NP_957516.1:p.Gln335AsnfsTer2
NM_177433.3:c.1003del MANE Select	NP_803182.1:p.Gln335AsnfsTer2
NM_014599.6:c.1003del	NP_055414.2:p.Gln335AsnfsTer2
NM_201222.3:c.1003del	NP_957516.1:p.Gln335AsnfsTer2