Canonical Allele Identifier: CA1993251655
Gene: MAML2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.96262284T>C , CM000673.2:g.96262284T>C GRCh38
NC_000011.9:g.95995448T>C , CM000673.1:g.95995448T>C GRCh37
NC_000011.8:g.95635096T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000524717.6:c.513+79099A>G MANE Select ENSP00000434552.1:n.513+79099A>G
ENST00000524717.5:c.513+79099A>G ENSP00000434552.1:n.513+79099A>G
NM_032427.3:c.513+79099A>G NP_115803.1:n.513+79099A>G
XM_011543024.1:c.-172+80624A>G XP_011541326.1:n.-172+80624A>G
XM_011543025.1:c.513+79099A>G XP_011541327.1:n.513+79099A>G
XM_011543024.3:c.-172+80624A>G XP_011541326.1:n.-172+80624A>G
XM_011543025.2:c.513+79099A>G XP_011541327.1:n.513+79099A>G
NM_032427.4:c.513+79099A>G MANE Select NP_115803.1:n.513+79099A>G