Canonical Allele Identifier: CA391323622
Gene: MAGEL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644438G>A , CM000677.2:g.23644438G>A GRCh38
NC_000015.9:g.23889585G>A , CM000677.1:g.23889585G>A GRCh37
NC_000015.8:g.21440678G>A NCBI36
NG_016776.1:g.8409C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3305C>T MANE Select ENSP00000497810.1:p.Ala1102Val
ENST00000532292.2:c.3305C>T ENSP00000433433.2:p.Ala1102Val
NM_019066.4:c.3305C>T NP_061939.3:p.Ala1102Val
NM_019066.5:c.3305C>T MANE Select NP_061939.3:p.Ala1102Val