Canonical Allele Identifier: CA2693854602

Gene: MAGED2

Linked Data

• gnomAD v4: X-54809968-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54809972del , CM000685.2:g.54809972del	GRCh38
NC_000023.10:g.54836405del , CM000685.1:g.54836405del	GRCh37
NC_000023.9:g.54853130del	NCBI36
NG_012844.1:g.7235del

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.296del MANE Select	ENSP00000364209.1:p.Asn99ThrfsTer4
ENST00000218439.8:c.296del	ENSP00000218439.4:p.Asn99ThrfsTer4
ENST00000347546.8:c.242del	ENSP00000336962.4:p.Asn81ThrfsTer4
ENST00000375053.6:c.296del	ENSP00000364193.2:p.Asn99ThrfsTer4
ENST00000375058.5:c.296del	ENSP00000364198.1:p.Asn99ThrfsTer4
ENST00000375060.5:c.182del	ENSP00000364200.1:p.Asn61ThrfsTer4
ENST00000375068.5:c.296del	ENSP00000364209.1:p.Asn99ThrfsTer4
ENST00000396224.1:c.296del	ENSP00000379526.1:p.Asn99ThrfsTer4
ENST00000463787.5:n.123-146del
ENST00000485483.1:n.531del
ENST00000497484.1:n.439del
ENST00000627068.2:c.182del	ENSP00000486563.1:p.Asn61ThrfsTer4
NM_014599.5:c.296del	NP_055414.2:p.Asn99ThrfsTer4
NM_177433.2:c.296del	NP_803182.1:p.Asn99ThrfsTer4
NM_201222.2:c.296del	NP_957516.1:p.Asn99ThrfsTer4
NM_177433.3:c.296del MANE Select	NP_803182.1:p.Asn99ThrfsTer4
NM_014599.6:c.296del	NP_055414.2:p.Asn99ThrfsTer4
NM_201222.3:c.296del	NP_957516.1:p.Asn99ThrfsTer4