Canonical Allele Identifier: CA489228558
Gene: MAGEL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.23889551C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644404C>A , CM000677.2:g.23644404C>A GRCh38
NC_000015.9:g.23889551C>A , CM000677.1:g.23889551C>A GRCh37
NC_000015.8:g.21440644C>A NCBI36
NG_016776.1:g.8443G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3339G>T MANE Select ENSP00000497810.1:p.Leu1113=
ENST00000532292.2:c.3339G>T ENSP00000433433.2:p.Leu1113=
NM_019066.4:c.3339G>T NP_061939.3:p.Leu1113=
NM_019066.5:c.3339G>T MANE Select NP_061939.3:p.Leu1113=