Canonical Allele Identifier: CA391323992
Gene: MAGEL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644469T>C , CM000677.2:g.23644469T>C GRCh38
NC_000015.9:g.23889616T>C , CM000677.1:g.23889616T>C GRCh37
NC_000015.8:g.21440709T>C NCBI36
NG_016776.1:g.8378A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3274A>G MANE Select ENSP00000497810.1:p.Lys1092Glu
ENST00000532292.2:c.3274A>G ENSP00000433433.2:p.Lys1092Glu
NM_019066.4:c.3274A>G NP_061939.3:p.Lys1092Glu
NM_019066.5:c.3274A>G MANE Select NP_061939.3:p.Lys1092Glu