Canonical Allele Identifier: CA199566

Gene: MAGEL2

Linked Data

• ClinVar Variation Id: 190122
• ClinVar RCV Id: RCV000170356 ; RCV000380351 ; RCV000622753 ; RCV002273971 ; RCV002277321 ; RCV002252015 ; RCV003458348
• dbSNP Id: rs770374710
• ExAC: 15:23890893 T / TG
• gnomAD v2: 15-23890893-T-TG
• gnomAD v4: 15-23645746-T-TG
• MyVariant Identifiers: chr15:g.23890894dupG (hg19) ; chr15:g.23890894_23890895insG (hg19) ; chr15:g.23890893_23890894insG (hg19) ; chr15:g.23645747dupG (hg38) ; chr15:g.23645746_23645747insG (hg38)
• PubMed: PMID:8424017 ; PMID:11891783 ; PMID:17728320 ; PMID:19066619 ; PMID:19172181 ; PMID:21248145 ; PMID:24076603 ; PMID:24661356 ; PMID:25473036 ; PMID:26365340 ; PMID:27195816 ; PMID:27479843

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.23645753dup , CM000677.2:g.23645753dup	GRCh38
NC_000015.9:g.23890900dup , CM000677.1:g.23890900dup	GRCh37
NC_000015.8:g.21441993dup	NCBI36
NG_016776.1:g.7100dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650528.1:c.1996dup MANE Select	ENSP00000497810.1:p.Gln666ProfsTer?
ENST00000532292.2:c.1996dup	ENSP00000433433.2:p.Gln666ProfsTer?
NM_019066.4:c.1996dup	NP_061939.3:p.Gln666ProfsTer?
NM_019066.5:c.1996dup MANE Select	NP_061939.3:p.Gln666ProfsTer?