Canonical Allele Identifier: CA2601400147
Gene: MAML2 HGNC NCBI

Linked Data

gnomAD v3: 11-96133594-A-G
gnomAD v4: 11-96133594-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.96133594A>G , CM000673.2:g.96133594A>G GRCh38
NC_000011.9:g.95866758A>G , CM000673.1:g.95866758A>G GRCh37
NC_000011.8:g.95506406A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000524717.6:c.514-40077T>C MANE Select ENSP00000434552.1:n.514-40077T>C
ENST00000524717.5:c.514-40077T>C ENSP00000434552.1:n.514-40077T>C
NM_032427.3:c.514-40077T>C NP_115803.1:n.514-40077T>C
XM_011543023.1:c.73-40077T>C XP_011541325.1:n.73-40077T>C
XM_011543024.1:c.-171-40077T>C XP_011541326.1:n.-171-40077T>C
XM_011543025.1:c.514-40077T>C XP_011541327.1:n.514-40077T>C
XM_011543023.3:c.73-40077T>C XP_011541325.1:n.73-40077T>C
XM_011543024.3:c.-171-40077T>C XP_011541326.1:n.-171-40077T>C
XM_011543025.2:c.514-40077T>C XP_011541327.1:n.514-40077T>C
NM_032427.4:c.514-40077T>C MANE Select NP_115803.1:n.514-40077T>C
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