Canonical Allele Identifier: CA391323480
Gene: MAGEL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644376T>G , CM000677.2:g.23644376T>G GRCh38
NC_000015.9:g.23889523T>G , CM000677.1:g.23889523T>G GRCh37
NC_000015.8:g.21440616T>G NCBI36
NG_016776.1:g.8471A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3367A>C MANE Select ENSP00000497810.1:p.Lys1123Gln
ENST00000532292.2:c.3367A>C ENSP00000433433.2:p.Lys1123Gln
NM_019066.4:c.3367A>C NP_061939.3:p.Lys1123Gln
NM_019066.5:c.3367A>C MANE Select NP_061939.3:p.Lys1123Gln