Canonical Allele Identifier: CA489228553
Gene: MAGEL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.23889542G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.23644395G>C , CM000677.2:g.23644395G>C GRCh38
NC_000015.9:g.23889542G>C , CM000677.1:g.23889542G>C GRCh37
NC_000015.8:g.21440635G>C NCBI36
NG_016776.1:g.8452C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650528.1:c.3348C>G MANE Select ENSP00000497810.1:p.Val1116=
ENST00000532292.2:c.3348C>G ENSP00000433433.2:p.Val1116=
NM_019066.4:c.3348C>G NP_061939.3:p.Val1116=
NM_019066.5:c.3348C>G MANE Select NP_061939.3:p.Val1116=
Search 100 bp 5'
Search 100 bp 3'