Canonical Allele Identifier: CA391333665
Gene: MAGEL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 440466
ClinVar RCV Id: RCV000508613
dbSNP Id: rs1555374290
MyVariant Identifiers: chr15:g.23891269G>A (hg19) chr15:g.23646122G>A (hg38)
PubMed: PMID:27195816
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23646122G>A , CM000677.2:g.23646122G>A GRCh38
NC_000015.9:g.23891269G>A , CM000677.1:g.23891269G>A GRCh37
NC_000015.8:g.21442362G>A NCBI36
NG_016776.1:g.6725C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.1621C>T MANE Select ENSP00000497810.1:p.Gln541Ter
ENST00000532292.2:c.1621C>T ENSP00000433433.2:p.Gln541Ter
NM_019066.4:c.1621C>T NP_061939.3:p.Gln541Ter
NM_019066.5:c.1621C>T MANE Select NP_061939.3:p.Gln541Ter
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