Canonical Allele Identifier: CA226636437

Gene: MAML2

Linked Data

• dbSNP Id: rs746536385
• gnomAD v3: 11-96133620-T-C
• gnomAD v4: 11-96133620-T-C
• MyVariant Identifiers: chr11:g.95866784T>C (hg19) ; chr11:g.96133620T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.96133620T>C , CM000673.2:g.96133620T>C	GRCh38
NC_000011.9:g.95866784T>C , CM000673.1:g.95866784T>C	GRCh37
NC_000011.8:g.95506432T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524717.6:c.514-40103A>G MANE Select	ENSP00000434552.1:n.514-40103A>G
ENST00000524717.5:c.514-40103A>G	ENSP00000434552.1:n.514-40103A>G
NM_032427.3:c.514-40103A>G	NP_115803.1:n.514-40103A>G
XM_011543023.1:c.73-40103A>G	XP_011541325.1:n.73-40103A>G
XM_011543024.1:c.-171-40103A>G	XP_011541326.1:n.-171-40103A>G
XM_011543025.1:c.514-40103A>G	XP_011541327.1:n.514-40103A>G
XM_011543023.3:c.73-40103A>G	XP_011541325.1:n.73-40103A>G
XM_011543024.3:c.-171-40103A>G	XP_011541326.1:n.-171-40103A>G
XM_011543025.2:c.514-40103A>G	XP_011541327.1:n.514-40103A>G
NM_032427.4:c.514-40103A>G MANE Select	NP_115803.1:n.514-40103A>G