Canonical Allele Identifier: CA413272230

Gene: MAGED2

Linked Data

• dbSNP Id: rs1352232794
• gnomAD v2: X-54838596-G-T
• gnomAD v4: X-54812163-G-T
• MyVariant Identifiers: chrX:g.54838596G>T (hg19) ; chrX:g.54812163G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54812163G>T , CM000685.2:g.54812163G>T	GRCh38
NC_000023.10:g.54838596G>T , CM000685.1:g.54838596G>T	GRCh37
NC_000023.9:g.54855321G>T	NCBI36
NG_012844.1:g.9426G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.997G>T MANE Select	ENSP00000364209.1:p.Gly333Trp
ENST00000218439.8:c.997G>T	ENSP00000218439.4:p.Gly333Trp
ENST00000347546.8:c.943G>T	ENSP00000336962.4:p.Gly315Trp
ENST00000375053.6:c.997G>T	ENSP00000364193.2:p.Gly333Trp
ENST00000375058.5:c.997G>T	ENSP00000364198.1:p.Gly333Trp
ENST00000375060.5:c.742G>T	ENSP00000364200.1:p.Gly248Trp
ENST00000375068.5:c.997G>T	ENSP00000364209.1:p.Gly333Trp
ENST00000396224.1:c.997G>T	ENSP00000379526.1:p.Gly333Trp
ENST00000487482.5:n.129G>T
ENST00000627068.2:c.742G>T	ENSP00000486563.1:p.Gly248Trp
NM_014599.5:c.997G>T	NP_055414.2:p.Gly333Trp
NM_177433.2:c.997G>T	NP_803182.1:p.Gly333Trp
NM_201222.2:c.997G>T	NP_957516.1:p.Gly333Trp
NM_177433.3:c.997G>T MANE Select	NP_803182.1:p.Gly333Trp
NM_014599.6:c.997G>T	NP_055414.2:p.Gly333Trp
NM_201222.3:c.997G>T	NP_957516.1:p.Gly333Trp