Canonical Allele Identifier: CA204677
Gene: MAGEL2 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'