Canonical Allele Identifier: CA391323529
Gene: MAGEL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.23889544C>G (hg19) chr15:g.23644397C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644397C>G , CM000677.2:g.23644397C>G GRCh38
NC_000015.9:g.23889544C>G , CM000677.1:g.23889544C>G GRCh37
NC_000015.8:g.21440637C>G NCBI36
NG_016776.1:g.8450G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3346G>C MANE Select ENSP00000497810.1:p.Val1116Leu
ENST00000532292.2:c.3346G>C ENSP00000433433.2:p.Val1116Leu
NM_019066.4:c.3346G>C NP_061939.3:p.Val1116Leu
NM_019066.5:c.3346G>C MANE Select NP_061939.3:p.Val1116Leu
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