Canonical Allele Identifier: CA1993195775

Gene: MAML2

Linked Data

• dbSNP Id: rs1591031726
• gnomAD v3: 11-96133472-C-T
• gnomAD v4: 11-96133472-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.96133472C>T , CM000673.2:g.96133472C>T	GRCh38
NC_000011.9:g.95866636C>T , CM000673.1:g.95866636C>T	GRCh37
NC_000011.8:g.95506284C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000524717.6:c.514-39955G>A MANE Select	ENSP00000434552.1:n.514-39955G>A
ENST00000524717.5:c.514-39955G>A	ENSP00000434552.1:n.514-39955G>A
NM_032427.3:c.514-39955G>A	NP_115803.1:n.514-39955G>A
XM_011543023.1:c.73-39955G>A	XP_011541325.1:n.73-39955G>A
XM_011543024.1:c.-171-39955G>A	XP_011541326.1:n.-171-39955G>A
XM_011543025.1:c.514-39955G>A	XP_011541327.1:n.514-39955G>A
XM_011543023.3:c.73-39955G>A	XP_011541325.1:n.73-39955G>A
XM_011543024.3:c.-171-39955G>A	XP_011541326.1:n.-171-39955G>A
XM_011543025.2:c.514-39955G>A	XP_011541327.1:n.514-39955G>A
NM_032427.4:c.514-39955G>A MANE Select	NP_115803.1:n.514-39955G>A