Canonical Allele Identifier: CA391323461
Gene: MAGEL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644368G>C , CM000677.2:g.23644368G>C GRCh38
NC_000015.9:g.23889515G>C , CM000677.1:g.23889515G>C GRCh37
NC_000015.8:g.21440608G>C NCBI36
NG_016776.1:g.8479C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3375C>G MANE Select ENSP00000497810.1:p.Asn1125Lys
ENST00000532292.2:c.3375C>G ENSP00000433433.2:p.Asn1125Lys
NM_019066.4:c.3375C>G NP_061939.3:p.Asn1125Lys
NM_019066.5:c.3375C>G MANE Select NP_061939.3:p.Asn1125Lys