Canonical Allele Identifier: CA413686532
Gene: MAGEE2 HGNC NCBI

Linked Data

dbSNP Id: rs1219253692
gnomAD v2: X-75004538-A-T
gnomAD v4: X-75784703-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.75784703A>T , CM000685.2:g.75784703A>T GRCh38
NC_000023.10:g.75004538A>T , CM000685.1:g.75004538A>T GRCh37
NC_000023.9:g.74921263A>T NCBI36
NG_021324.1:g.5542T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373359.4:c.349T>A MANE Select ENSP00000362457.2:p.Phe117Ile
ENST00000373359.3:c.349T>A ENSP00000362457.2:p.Phe117Ile
NM_138703.4:c.349T>A NP_619648.1:p.Phe117Ile
XR_001755892.1:n.449-6589A>T
XR_001755894.1:n.449-6979A>T
NM_138703.5:c.349T>A MANE Select NP_619648.1:p.Phe117Ile