Canonical Allele Identifier: CA2164294903
Gene: MAGEL2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644468T= , CM000677.2:g.23644468T= GRCh38
NC_000015.9:g.23889615T= , CM000677.1:g.23889615T= GRCh37
NC_000015.8:g.21440708T= NCBI36
NG_016776.1:g.8379A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3275A= MANE Select ENSP00000497810.1:p.Lys1092=
ENST00000532292.2:c.3275A= ENSP00000433433.2:p.Lys1092=
NM_019066.4:c.3275A= NP_061939.3:p.Lys1092=
NM_019066.5:c.3275A= MANE Select NP_061939.3:p.Lys1092=
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