Canonical Allele Identifier: CA7430063

Gene: MAGEL2

Linked Data

• ClinVar Variation Id: 435798
• ClinVar RCV Id: RCV000502840 ; RCV002524223 ; RCV002490835 ; RCV002524222
• dbSNP Id: rs541606785
• ExAC: 15:23891931 G / T
• gnomAD v2: 15-23891931-G-T
• gnomAD v3: 15-23646784-G-T
• gnomAD v4: 15-23646784-G-T
• MyVariant Identifiers: chr15:g.23891931G>T (hg19) ; chr15:g.23646784G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.23646784G>T , CM000677.2:g.23646784G>T	GRCh38
NC_000015.9:g.23891931G>T , CM000677.1:g.23891931G>T	GRCh37
NC_000015.8:g.21443024G>T	NCBI36
NG_016776.1:g.6063C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650528.1:c.959C>A MANE Select	ENSP00000497810.1:p.Ala320Asp
ENST00000532292.2:c.959C>A	ENSP00000433433.2:p.Ala320Asp
NM_019066.4:c.959C>A	NP_061939.3:p.Ala320Asp
NM_019066.5:c.959C>A MANE Select	NP_061939.3:p.Ala320Asp