Canonical Allele Identifier: CA876410808

Gene: MAGED2

Linked Data

• dbSNP Id: rs767412249
• gnomAD v4: X-54814650-C-T
• MyVariant Identifiers: chrX:g.54841083C>T (hg19) ; chrX:g.54814650C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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