Canonical Allele Identifier: CA10456610
Gene: MAGEE2 HGNC NCBI

Linked Data

dbSNP Id: rs373571440
ExAC: X:75004541 C / T
gnomAD v2: X-75004541-C-T
gnomAD v3: X-75784706-C-T
gnomAD v4: X-75784706-C-T
MyVariant Identifiers: chrX:g.75004541C>T (hg19) chrX:g.75784706C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.75784706C>T , CM000685.2:g.75784706C>T GRCh38
NC_000023.10:g.75004541C>T , CM000685.1:g.75004541C>T GRCh37
NC_000023.9:g.74921266C>T NCBI36
NG_021324.1:g.5539G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373359.4:c.346G>A MANE Select ENSP00000362457.2:p.Glu116Lys
ENST00000373359.3:c.346G>A ENSP00000362457.2:p.Glu116Lys
NM_138703.4:c.346G>A NP_619648.1:p.Glu116Lys
XR_001755892.1:n.449-6586C>T
XR_001755894.1:n.449-6976C>T
NM_138703.5:c.346G>A MANE Select NP_619648.1:p.Glu116Lys
Search 100 bp 5'
Search 100 bp 3'