Canonical Allele Identifier: CA413274067

Gene: MAGED2

Linked Data

• gnomAD v4: X-54814710-T-G
• MyVariant Identifiers: chrX:g.54841143T>G (hg19) ; chrX:g.54814710T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54814710T>G , CM000685.2:g.54814710T>G	GRCh38
NC_000023.10:g.54841143T>G , CM000685.1:g.54841143T>G	GRCh37
NC_000023.9:g.54857868T>G	NCBI36
NG_012844.1:g.11973T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375068.6:c.1321T>G MANE Select	ENSP00000364209.1:p.Phe441Val
ENST00000218439.8:c.1321T>G	ENSP00000218439.4:p.Phe441Val
ENST00000347546.8:c.1267T>G	ENSP00000336962.4:p.Phe423Val
ENST00000375053.6:c.1321T>G	ENSP00000364193.2:p.Phe441Val
ENST00000375058.5:c.1321T>G	ENSP00000364198.1:p.Phe441Val
ENST00000375060.5:c.1066T>G	ENSP00000364200.1:p.Phe356Val
ENST00000375068.5:c.1321T>G	ENSP00000364209.1:p.Phe441Val
ENST00000396224.1:c.1321T>G	ENSP00000379526.1:p.Phe441Val
ENST00000627068.2:c.1066T>G	ENSP00000486563.1:p.Phe356Val
NM_014599.5:c.1321T>G	NP_055414.2:p.Phe441Val
NM_177433.2:c.1321T>G	NP_803182.1:p.Phe441Val
NM_201222.2:c.1321T>G	NP_957516.1:p.Phe441Val
NM_177433.3:c.1321T>G MANE Select	NP_803182.1:p.Phe441Val
NM_014599.6:c.1321T>G	NP_055414.2:p.Phe441Val
NM_201222.3:c.1321T>G	NP_957516.1:p.Phe441Val