Canonical Allele Identifier: CA391325103
Gene: MAGEL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644570C>T , CM000677.2:g.23644570C>T GRCh38
NC_000015.9:g.23889717C>T , CM000677.1:g.23889717C>T GRCh37
NC_000015.8:g.21440810C>T NCBI36
NG_016776.1:g.8277G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3173G>A MANE Select ENSP00000497810.1:p.Cys1058Tyr
ENST00000532292.2:c.3173G>A ENSP00000433433.2:p.Cys1058Tyr
NM_019066.4:c.3173G>A NP_061939.3:p.Cys1058Tyr
NM_019066.5:c.3173G>A MANE Select NP_061939.3:p.Cys1058Tyr