Canonical Allele Identifier: CA391323682

Gene: MAGEL2

Linked Data

• MyVariant Identifiers: chr15:g.23889590C>G (hg19) ; chr15:g.23644443C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.23644443C>G , CM000677.2:g.23644443C>G	GRCh38
NC_000015.9:g.23889590C>G , CM000677.1:g.23889590C>G	GRCh37
NC_000015.8:g.21440683C>G	NCBI36
NG_016776.1:g.8404G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650528.1:c.3300G>C MANE Select	ENSP00000497810.1:p.Leu1100Phe
ENST00000532292.2:c.3300G>C	ENSP00000433433.2:p.Leu1100Phe
NM_019066.4:c.3300G>C	NP_061939.3:p.Leu1100Phe
NM_019066.5:c.3300G>C MANE Select	NP_061939.3:p.Leu1100Phe