Canonical Allele Identifier: CA391323532
Gene: MAGEL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644399A>T , CM000677.2:g.23644399A>T GRCh38
NC_000015.9:g.23889546A>T , CM000677.1:g.23889546A>T GRCh37
NC_000015.8:g.21440639A>T NCBI36
NG_016776.1:g.8448T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3344T>A MANE Select ENSP00000497810.1:p.Val1115Glu
ENST00000532292.2:c.3344T>A ENSP00000433433.2:p.Val1115Glu
NM_019066.4:c.3344T>A NP_061939.3:p.Val1115Glu
NM_019066.5:c.3344T>A MANE Select NP_061939.3:p.Val1115Glu