Canonical Allele Identifier: CA391323988

Gene: MAGEL2

Linked Data

• dbSNP Id: rs1313800255
• gnomAD v2: 15-23889615-T-C
• gnomAD v4: 15-23644468-T-C
• MyVariant Identifiers: chr15:g.23889615T>C (hg19) ; chr15:g.23644468T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.23644468T>C , CM000677.2:g.23644468T>C	GRCh38
NC_000015.9:g.23889615T>C , CM000677.1:g.23889615T>C	GRCh37
NC_000015.8:g.21440708T>C	NCBI36
NG_016776.1:g.8379A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650528.1:c.3275A>G MANE Select	ENSP00000497810.1:p.Lys1092Arg
ENST00000532292.2:c.3275A>G	ENSP00000433433.2:p.Lys1092Arg
NM_019066.4:c.3275A>G	NP_061939.3:p.Lys1092Arg
NM_019066.5:c.3275A>G MANE Select	NP_061939.3:p.Lys1092Arg