Canonical Allele Identifier: CA1993253483
Gene: MAML2 HGNC NCBI

Linked Data

dbSNP Id: rs1862709955

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.96259014C>A , CM000673.2:g.96259014C>A GRCh38
NC_000011.9:g.95992178C>A , CM000673.1:g.95992178C>A GRCh37
NC_000011.8:g.95631826C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000524717.6:c.513+82369G>T MANE Select ENSP00000434552.1:n.513+82369G>T
ENST00000524717.5:c.513+82369G>T ENSP00000434552.1:n.513+82369G>T
NM_032427.3:c.513+82369G>T NP_115803.1:n.513+82369G>T
XM_011543024.1:c.-172+83894G>T XP_011541326.1:n.-172+83894G>T
XM_011543025.1:c.513+82369G>T XP_011541327.1:n.513+82369G>T
XM_011543024.3:c.-172+83894G>T XP_011541326.1:n.-172+83894G>T
XM_011543025.2:c.513+82369G>T XP_011541327.1:n.513+82369G>T
NM_032427.4:c.513+82369G>T MANE Select NP_115803.1:n.513+82369G>T