Canonical Allele Identifier: CA2838677497
Gene: MAGED2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.54814816G>T , CM000685.2:g.54814816G>T GRCh38
NC_000023.10:g.54841249G>T , CM000685.1:g.54841249G>T GRCh37
NC_000023.9:g.54857974G>T NCBI36
NG_012844.1:g.12079G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375068.6:c.1386+41G>T MANE Select ENSP00000364209.1:n.1386+41G>T
ENST00000218439.8:c.1386+41G>T ENSP00000218439.4:n.1386+41G>T
ENST00000347546.8:c.1332+41G>T ENSP00000336962.4:n.1332+41G>T
ENST00000375053.6:c.1386+41G>T ENSP00000364193.2:n.1386+41G>T
ENST00000375058.5:c.1386+41G>T ENSP00000364198.1:n.1386+41G>T
ENST00000375060.5:c.1131+41G>T ENSP00000364200.1:n.1131+41G>T
ENST00000375068.5:c.1386+41G>T ENSP00000364209.1:n.1386+41G>T
ENST00000396224.1:c.1386+41G>T ENSP00000379526.1:n.1386+41G>T
ENST00000627068.2:c.1131+41G>T ENSP00000486563.1:n.1131+41G>T
NM_014599.5:c.1386+41G>T NP_055414.2:n.1386+41G>T
NM_177433.2:c.1386+41G>T NP_803182.1:n.1386+41G>T
NM_201222.2:c.1386+41G>T NP_957516.1:n.1386+41G>T
NM_177433.3:c.1386+41G>T MANE Select NP_803182.1:n.1386+41G>T
NM_014599.6:c.1386+41G>T NP_055414.2:n.1386+41G>T
NM_201222.3:c.1386+41G>T NP_957516.1:n.1386+41G>T