Canonical Allele Identifier: CA391323481
Gene: MAGEL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644377C>A , CM000677.2:g.23644377C>A GRCh38
NC_000015.9:g.23889524C>A , CM000677.1:g.23889524C>A GRCh37
NC_000015.8:g.21440617C>A NCBI36
NG_016776.1:g.8470G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3366G>T MANE Select ENSP00000497810.1:p.Met1122Ile
ENST00000532292.2:c.3366G>T ENSP00000433433.2:p.Met1122Ile
NM_019066.4:c.3366G>T NP_061939.3:p.Met1122Ile
NM_019066.5:c.3366G>T MANE Select NP_061939.3:p.Met1122Ile