Canonical Allele Identifier: CA1993253474
Gene: MAML2 HGNC NCBI

Linked Data

dbSNP Id: rs1862709845

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.96259008C>T , CM000673.2:g.96259008C>T GRCh38
NC_000011.9:g.95992172C>T , CM000673.1:g.95992172C>T GRCh37
NC_000011.8:g.95631820C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000524717.6:c.513+82375G>A MANE Select ENSP00000434552.1:n.513+82375G>A
ENST00000524717.5:c.513+82375G>A ENSP00000434552.1:n.513+82375G>A
NM_032427.3:c.513+82375G>A NP_115803.1:n.513+82375G>A
XM_011543024.1:c.-172+83900G>A XP_011541326.1:n.-172+83900G>A
XM_011543025.1:c.513+82375G>A XP_011541327.1:n.513+82375G>A
XM_011543024.3:c.-172+83900G>A XP_011541326.1:n.-172+83900G>A
XM_011543025.2:c.513+82375G>A XP_011541327.1:n.513+82375G>A
NM_032427.4:c.513+82375G>A MANE Select NP_115803.1:n.513+82375G>A