Canonical Allele Identifier: CA10426868

Gene: MAGED2

Linked Data

• dbSNP Id: rs767412249
• ExAC: X:54841083 C / G
• gnomAD v2: X-54841083-C-G
• gnomAD v3: X-54814650-C-G
• gnomAD v4: X-54814650-C-G
• MyVariant Identifiers: chrX:g.54841083C>G (hg19) ; chrX:g.54814650C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54814650C>G , CM000685.2:g.54814650C>G	GRCh38
NC_000023.10:g.54841083C>G , CM000685.1:g.54841083C>G	GRCh37
NC_000023.9:g.54857808C>G	NCBI36
NG_012844.1:g.11913C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.1272-11C>G MANE Select	ENSP00000364209.1:n.1272-11C>G
ENST00000218439.8:c.1272-11C>G	ENSP00000218439.4:n.1272-11C>G
ENST00000347546.8:c.1218-11C>G	ENSP00000336962.4:n.1218-11C>G
ENST00000375053.6:c.1272-11C>G	ENSP00000364193.2:n.1272-11C>G
ENST00000375058.5:c.1272-11C>G	ENSP00000364198.1:n.1272-11C>G
ENST00000375060.5:c.1017-11C>G	ENSP00000364200.1:n.1017-11C>G
ENST00000375068.5:c.1272-11C>G	ENSP00000364209.1:n.1272-11C>G
ENST00000396224.1:c.1272-11C>G	ENSP00000379526.1:n.1272-11C>G
ENST00000627068.2:c.1017-11C>G	ENSP00000486563.1:n.1017-11C>G
NM_014599.5:c.1272-11C>G	NP_055414.2:n.1272-11C>G
NM_177433.2:c.1272-11C>G	NP_803182.1:n.1272-11C>G
NM_201222.2:c.1272-11C>G	NP_957516.1:n.1272-11C>G
NM_177433.3:c.1272-11C>G MANE Select	NP_803182.1:n.1272-11C>G
NM_014599.6:c.1272-11C>G	NP_055414.2:n.1272-11C>G
NM_201222.3:c.1272-11C>G	NP_957516.1:n.1272-11C>G