Canonical Allele Identifier: CA413686535
Gene: MAGEE2 HGNC NCBI

Linked Data

dbSNP Id: rs781624242
gnomAD v3: X-75784705-T-G
gnomAD v4: X-75784705-T-G
MyVariant Identifiers: chrX:g.75004540T>G (hg19) chrX:g.75784705T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.75784705T>G , CM000685.2:g.75784705T>G GRCh38
NC_000023.10:g.75004540T>G , CM000685.1:g.75004540T>G GRCh37
NC_000023.9:g.74921265T>G NCBI36
NG_021324.1:g.5540A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373359.4:c.347A>C MANE Select ENSP00000362457.2:p.Glu116Ala
ENST00000373359.3:c.347A>C ENSP00000362457.2:p.Glu116Ala
NM_138703.4:c.347A>C NP_619648.1:p.Glu116Ala
XR_001755892.1:n.449-6587T>G
XR_001755894.1:n.449-6977T>G
NM_138703.5:c.347A>C MANE Select NP_619648.1:p.Glu116Ala
Search 100 bp 5'
Search 100 bp 3'