Canonical Allele Identifier: CA391325064

Gene: MAGEL2

Linked Data

• dbSNP Id: rs1184654310
• gnomAD v2: 15-23889713-T-G
• gnomAD v4: 15-23644566-T-G
• MyVariant Identifiers: chr15:g.23889713T>G (hg19) ; chr15:g.23644566T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.23644566T>G , CM000677.2:g.23644566T>G	GRCh38
NC_000015.9:g.23889713T>G , CM000677.1:g.23889713T>G	GRCh37
NC_000015.8:g.21440806T>G	NCBI36
NG_016776.1:g.8281A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650528.1:c.3177A>C MANE Select	ENSP00000497810.1:p.Leu1059Phe
ENST00000532292.2:c.3177A>C	ENSP00000433433.2:p.Leu1059Phe
NM_019066.4:c.3177A>C	NP_061939.3:p.Leu1059Phe
NM_019066.5:c.3177A>C MANE Select	NP_061939.3:p.Leu1059Phe