Canonical Allele Identifier: CA10576212
Gene: MAGED2 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.54814725C>T
GRCh37 chrX:g.54841158C>T
Revel Score:
ENST00000375068 (MANE Select) 0.404
ENST00000375053 0.404
ENST00000347546 0.404
ENST00000343474 0.404
ENST00000375062 0.404
ENST00000218439 0.404
ENST00000375058 0.404
ENST00000375060 0.404
ENST00000396224 0.404
ClinVar RCV:
RCV000211522
RCV003227716
ClinVar Variation:
226034
dbSNP:
878854407
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54814725C>T , CM000685.2:g.54814725C>T GRCh38
NC_000023.10:g.54841158C>T , CM000685.1:g.54841158C>T GRCh37
NC_000023.9:g.54857883C>T NCBI36
NG_012844.1:g.11988C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375068.6:c.1336C>T MANE Select ENSP00000364209.1:p.Arg446Cys
ENST00000218439.8:c.1336C>T ENSP00000218439.4:p.Arg446Cys
ENST00000347546.8:c.1282C>T ENSP00000336962.4:p.Arg428Cys
ENST00000375053.6:c.1336C>T ENSP00000364193.2:p.Arg446Cys
ENST00000375058.5:c.1336C>T ENSP00000364198.1:p.Arg446Cys
ENST00000375060.5:c.1081C>T ENSP00000364200.1:p.Arg361Cys
ENST00000375068.5:c.1336C>T ENSP00000364209.1:p.Arg446Cys
ENST00000396224.1:c.1336C>T ENSP00000379526.1:p.Arg446Cys
ENST00000627068.2:c.1081C>T ENSP00000486563.1:p.Arg361Cys
NM_014599.5:c.1336C>T NP_055414.2:p.Arg446Cys
NM_177433.2:c.1336C>T NP_803182.1:p.Arg446Cys
NM_201222.2:c.1336C>T NP_957516.1:p.Arg446Cys
NM_177433.3:c.1336C>T MANE Select NP_803182.1:p.Arg446Cys
NM_014599.6:c.1336C>T NP_055414.2:p.Arg446Cys
NM_201222.3:c.1336C>T NP_957516.1:p.Arg446Cys
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