Canonical Allele Identifier: CA10576210
Gene: MAGED2 HGNC NCBI

Linked Data

ClinVar Variation Id: 226032
ClinVar RCV Id: RCV000211544
dbSNP Id: rs878854405
gnomAD v4: X-54812155-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54812155A>G , CM000685.2:g.54812155A>G GRCh38
NC_000023.10:g.54838588A>G , CM000685.1:g.54838588A>G GRCh37
NC_000023.9:g.54855313A>G NCBI36
NG_012844.1:g.9418A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375068.6:c.991-2A>G MANE Select ENSP00000364209.1:n.991-2A>G
ENST00000218439.8:c.991-2A>G ENSP00000218439.4:n.991-2A>G
ENST00000347546.8:c.937-2A>G ENSP00000336962.4:n.937-2A>G
ENST00000375053.6:c.991-2A>G ENSP00000364193.2:n.991-2A>G
ENST00000375058.5:c.991-2A>G ENSP00000364198.1:n.991-2A>G
ENST00000375060.5:c.736-2A>G ENSP00000364200.1:n.736-2A>G
ENST00000375068.5:c.991-2A>G ENSP00000364209.1:n.991-2A>G
ENST00000396224.1:c.991-2A>G ENSP00000379526.1:n.991-2A>G
ENST00000487482.5:n.123-2A>G
ENST00000627068.2:c.736-2A>G ENSP00000486563.1:n.736-2A>G
NM_014599.5:c.991-2A>G NP_055414.2:n.991-2A>G
NM_177433.2:c.991-2A>G NP_803182.1:n.991-2A>G
NM_201222.2:c.991-2A>G NP_957516.1:n.991-2A>G
NM_177433.3:c.991-2A>G MANE Select NP_803182.1:n.991-2A>G
NM_014599.6:c.991-2A>G NP_055414.2:n.991-2A>G
NM_201222.3:c.991-2A>G NP_957516.1:n.991-2A>G