Canonical Allele Identifier: CA391323536

Gene: MAGEL2

Linked Data

• dbSNP Id: rs1260387832
• gnomAD v2: 15-23889547-C-T
• gnomAD v4: 15-23644400-C-T
• MyVariant Identifiers: chr15:g.23889547C>T (hg19) ; chr15:g.23644400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.23644400C>T , CM000677.2:g.23644400C>T	GRCh38
NC_000015.9:g.23889547C>T , CM000677.1:g.23889547C>T	GRCh37
NC_000015.8:g.21440640C>T	NCBI36
NG_016776.1:g.8447G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650528.1:c.3343G>A MANE Select	ENSP00000497810.1:p.Val1115Met
ENST00000532292.2:c.3343G>A	ENSP00000433433.2:p.Val1115Met
NM_019066.4:c.3343G>A	NP_061939.3:p.Val1115Met
NM_019066.5:c.3343G>A MANE Select	NP_061939.3:p.Val1115Met