Canonical Allele Identifier: CA204677

Gene: MAGEL2

Linked Data

• ClinVar Variation Id: 208684
• ClinVar RCV Id: RCV000190699 ; RCV000238706 ; RCV000508676 ; RCV000762935 ; RCV003407693
• dbSNP Id: rs797044883
• gnomAD v4: 15-23645831-G-A
• MyVariant Identifiers: chr15:g.23890978G>A (hg19) ; chr15:g.23645831G>A (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:28281571

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.23645831G>A , CM000677.2:g.23645831G>A	GRCh38
NC_000015.9:g.23890978G>A , CM000677.1:g.23890978G>A	GRCh37
NC_000015.8:g.21442071G>A	NCBI36
NG_016776.1:g.7016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650528.1:c.1912C>T MANE Select	ENSP00000497810.1:p.Gln638Ter
ENST00000532292.2:c.1912C>T	ENSP00000433433.2:p.Gln638Ter
NM_019066.4:c.1912C>T	NP_061939.3:p.Gln638Ter
NM_019066.5:c.1912C>T MANE Select	NP_061939.3:p.Gln638Ter