Canonical Allele Identifier: CA7429730
Gene: MAGEL2 HGNC NCBI

Linked Data

dbSNP Id: rs776697724
ExAC: 15:23889723 T / A
gnomAD v2: 15-23889723-T-A
MyVariant Identifiers: chr15:g.23889723T>A (hg19) chr15:g.23644576T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644576T>A , CM000677.2:g.23644576T>A GRCh38
NC_000015.9:g.23889723T>A , CM000677.1:g.23889723T>A GRCh37
NC_000015.8:g.21440816T>A NCBI36
NG_016776.1:g.8271A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3167A>T MANE Select ENSP00000497810.1:p.Asp1056Val
ENST00000532292.2:c.3167A>T ENSP00000433433.2:p.Asp1056Val
NM_019066.4:c.3167A>T NP_061939.3:p.Asp1056Val
NM_019066.5:c.3167A>T MANE Select NP_061939.3:p.Asp1056Val
Search 100 bp 5'
Search 100 bp 3'