Canonical Allele Identifier: CA391323658
Gene: MAGEL2 HGNC NCBI

Linked Data

dbSNP Id: rs1890344626

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644442C>T , CM000677.2:g.23644442C>T GRCh38
NC_000015.9:g.23889589C>T , CM000677.1:g.23889589C>T GRCh37
NC_000015.8:g.21440682C>T NCBI36
NG_016776.1:g.8405G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3301G>A MANE Select ENSP00000497810.1:p.Val1101Met
ENST00000532292.2:c.3301G>A ENSP00000433433.2:p.Val1101Met
NM_019066.4:c.3301G>A NP_061939.3:p.Val1101Met
NM_019066.5:c.3301G>A MANE Select NP_061939.3:p.Val1101Met