Canonical Allele Identifier: CA1993195827
Gene: MAML2 HGNC NCBI

Linked Data

dbSNP Id: rs1860579986

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.96133613_96133614del , CM000673.2:g.96133613_96133614del GRCh38
NC_000011.9:g.95866777_95866778del , CM000673.1:g.95866777_95866778del GRCh37
NC_000011.8:g.95506425_95506426del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000524717.6:c.514-40096_514-40095del MANE Select ENSP00000434552.1:n.514-40096_514-40095del
ENST00000524717.5:c.514-40096_514-40095del ENSP00000434552.1:n.514-40096_514-40095del
NM_032427.3:c.514-40096_514-40095del NP_115803.1:n.514-40096_514-40095del
XM_011543023.1:c.73-40096_73-40095del XP_011541325.1:n.73-40096_73-40095del
XM_011543024.1:c.-171-40096_-171-40095del XP_011541326.1:n.-171-40096_-171-40095del
XM_011543025.1:c.514-40096_514-40095del XP_011541327.1:n.514-40096_514-40095del
XM_011543023.3:c.73-40096_73-40095del XP_011541325.1:n.73-40096_73-40095del
XM_011543024.3:c.-171-40096_-171-40095del XP_011541326.1:n.-171-40096_-171-40095del
XM_011543025.2:c.514-40096_514-40095del XP_011541327.1:n.514-40096_514-40095del
NM_032427.4:c.514-40096_514-40095del MANE Select NP_115803.1:n.514-40096_514-40095del