Canonical Allele Identifier: CA413274374
Community Standard Title: NM_177433.3(MAGED2):c.1386+1G>A
Gene: MAGED2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54814776G>A , CM000685.2:g.54814776G>A GRCh38
NC_000023.10:g.54841209G>A , CM000685.1:g.54841209G>A GRCh37
NC_000023.9:g.54857934G>A NCBI36
NG_012844.1:g.12039G>A

Transcript Alleles

HGVS Amino-acid Change
NM_177433.3:c.1386+1G>A MANE Select NP_803182.1:n.1386+1G>A
ENST00000375068.6:c.1386+1G>A MANE Select ENSP00000364209.1:n.1386+1G>A
NM_014599.5:c.1386+1G>A NP_055414.2:n.1386+1G>A
NM_014599.6:c.1386+1G>A NP_055414.2:n.1386+1G>A
NM_177433.2:c.1386+1G>A NP_803182.1:n.1386+1G>A
NM_201222.2:c.1386+1G>A NP_957516.1:n.1386+1G>A
NM_201222.3:c.1386+1G>A NP_957516.1:n.1386+1G>A
ENST00000218439.8:c.1386+1G>A ENSP00000218439.4:n.1386+1G>A
ENST00000347546.8:c.1332+1G>A ENSP00000336962.4:n.1332+1G>A
ENST00000375053.6:c.1386+1G>A ENSP00000364193.2:n.1386+1G>A
ENST00000375058.5:c.1386+1G>A ENSP00000364198.1:n.1386+1G>A
ENST00000375060.5:c.1131+1G>A ENSP00000364200.1:n.1131+1G>A
ENST00000375068.5:c.1386+1G>A ENSP00000364209.1:n.1386+1G>A
ENST00000396224.1:c.1386+1G>A ENSP00000379526.1:n.1386+1G>A
ENST00000627068.2:c.1131+1G>A ENSP00000486563.1:n.1131+1G>A