Canonical Allele Identifier: CA7430116

Gene: MAGEL2

Linked Data

• ClinVar Variation Id: 435800
• ClinVar RCV Id: RCV000501872 ; RCV001198742 ; RCV001729617 ; RCV002524224
• dbSNP Id: rs188762916
• ExAC: 15:23892505 T / C
• gnomAD v2: 15-23892505-T-C
• gnomAD v3: 15-23647358-T-C
• gnomAD v4: 15-23647358-T-C
• MyVariant Identifiers: chr15:g.23892505T>C (hg19) ; chr15:g.23647358T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.23647358T>C , CM000677.2:g.23647358T>C	GRCh38
NC_000015.9:g.23892505T>C , CM000677.1:g.23892505T>C	GRCh37
NC_000015.8:g.21443598T>C	NCBI36
NG_016776.1:g.5489A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650528.1:c.385A>G MANE Select	ENSP00000497810.1:p.Met129Val
ENST00000532292.2:c.385A>G	ENSP00000433433.2:p.Met129Val
NM_019066.4:c.385A>G	NP_061939.3:p.Met129Val
NM_019066.5:c.385A>G MANE Select	NP_061939.3:p.Met129Val