Canonical Allele Identifier: CA10456606
Gene: MAGEE2 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.75784694C>A
GRCh37 chrX:g.75004529C>A
gnomAD v2:
X:75004529 C / A
gnomAD v3:
X:75784694 C / A
gnomAD v4:
chrX-75784694-C-A
Joint Max Group AF 0.88961398 (EAS)
Genomes Max Group AF 0.82006026 (EAS)
Exomes Max Group AF 0.89504482 (EAS)
dbSNP:
1343879
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.75784694C>A , CM000685.2:g.75784694C>A GRCh38
NC_000023.10:g.75004529C>A , CM000685.1:g.75004529C>A GRCh37
NC_000023.9:g.74921254C>A NCBI36
NG_021324.1:g.5551G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373359.4:c.358G>T MANE Select ENSP00000362457.2:p.Glu120Ter
ENST00000373359.3:c.358G>T ENSP00000362457.2:p.Glu120Ter
NM_138703.4:c.358G>T NP_619648.1:p.Glu120Ter
XR_001755892.1:n.449-6598C>A
XR_001755894.1:n.449-6988C>A
NM_138703.5:c.358G>T MANE Select NP_619648.1:p.Glu120Ter
Search 100 bp 5'
Search 100 bp 3'