Canonical Allele Identifier: CA2580613837
Gene: MAGEL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1313687
ClinVar RCV Id: RCV001764051
dbSNP Id: rs2140712313
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644471_23644473dup , CM000677.2:g.23644471_23644473dup GRCh38
NC_000015.9:g.23889618_23889620dup , CM000677.1:g.23889618_23889620dup GRCh37
NC_000015.8:g.21440711_21440713dup NCBI36
NG_016776.1:g.8377_8379dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3273_3275dup MANE Select ENSP00000497810.1:p.Asn1091_Lys1092insAsn
ENST00000532292.2:c.3273_3275dup ENSP00000433433.2:p.Asn1091_Lys1092insAsn
NM_019066.4:c.3273_3275dup NP_061939.3:p.Asn1091_Lys1092insAsn
NM_019066.5:c.3273_3275dup MANE Select NP_061939.3:p.Asn1091_Lys1092insAsn
Search 100 bp 5'
Search 100 bp 3'