Canonical Allele Identifier: CA1993253466
Gene: MAML2 HGNC NCBI

Linked Data

dbSNP Id: rs1862709728
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.96259002C>T , CM000673.2:g.96259002C>T GRCh38
NC_000011.9:g.95992166C>T , CM000673.1:g.95992166C>T GRCh37
NC_000011.8:g.95631814C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000524717.6:c.513+82381G>A MANE Select ENSP00000434552.1:n.513+82381G>A
ENST00000524717.5:c.513+82381G>A ENSP00000434552.1:n.513+82381G>A
NM_032427.3:c.513+82381G>A NP_115803.1:n.513+82381G>A
XM_011543024.1:c.-172+83906G>A XP_011541326.1:n.-172+83906G>A
XM_011543025.1:c.513+82381G>A XP_011541327.1:n.513+82381G>A
XM_011543024.3:c.-172+83906G>A XP_011541326.1:n.-172+83906G>A
XM_011543025.2:c.513+82381G>A XP_011541327.1:n.513+82381G>A
NM_032427.4:c.513+82381G>A MANE Select NP_115803.1:n.513+82381G>A
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