Canonical Allele Identifier: CA267657848
Gene: MAGEL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 435797
ClinVar RCV Id: RCV000504457 RCV003105931
dbSNP Id: rs369033422
gnomAD v2: 15-23889617-G-A
gnomAD v3: 15-23644470-G-A
gnomAD v4: 15-23644470-G-A
MyVariant Identifiers: chr15:g.23889617G>A (hg19) chr15:g.23644470G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644470G>A , CM000677.2:g.23644470G>A GRCh38
NC_000015.9:g.23889617G>A , CM000677.1:g.23889617G>A GRCh37
NC_000015.8:g.21440710G>A NCBI36
NG_016776.1:g.8377C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3273C>T MANE Select ENSP00000497810.1:p.Asn1091=
ENST00000532292.2:c.3273C>T ENSP00000433433.2:p.Asn1091=
NM_019066.4:c.3273C>T NP_061939.3:p.Asn1091=
NM_019066.5:c.3273C>T MANE Select NP_061939.3:p.Asn1091=
Search 100 bp 5'
Search 100 bp 3'