Canonical Allele Identifier: CA10456609
Gene: MAGEE2 HGNC NCBI

Linked Data

dbSNP Id: rs781624242
gnomAD v2: X-75004540-T-A
gnomAD v4: X-75784705-T-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000373359.4:c.347A>T MANE Select ENSP00000362457.2:p.Glu116Val
ENST00000373359.3:c.347A>T ENSP00000362457.2:p.Glu116Val
NM_138703.4:c.347A>T NP_619648.1:p.Glu116Val
XR_001755892.1:n.449-6587T>A
XR_001755894.1:n.449-6977T>A
NM_138703.5:c.347A>T MANE Select NP_619648.1:p.Glu116Val