Canonical Allele Identifier: CA226636361

Gene: MAML2

Linked Data

• dbSNP Id: rs184733491
• gnomAD v3: 11-96133467-G-A
• gnomAD v4: 11-96133467-G-A
• MyVariant Identifiers: chr11:g.95866631G>A (hg19) ; chr11:g.96133467G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.96133467G>A , CM000673.2:g.96133467G>A	GRCh38
NC_000011.9:g.95866631G>A , CM000673.1:g.95866631G>A	GRCh37
NC_000011.8:g.95506279G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000524717.6:c.514-39950C>T MANE Select	ENSP00000434552.1:n.514-39950C>T
ENST00000524717.5:c.514-39950C>T	ENSP00000434552.1:n.514-39950C>T
NM_032427.3:c.514-39950C>T	NP_115803.1:n.514-39950C>T
XM_011543023.1:c.73-39950C>T	XP_011541325.1:n.73-39950C>T
XM_011543024.1:c.-171-39950C>T	XP_011541326.1:n.-171-39950C>T
XM_011543025.1:c.514-39950C>T	XP_011541327.1:n.514-39950C>T
XM_011543023.3:c.73-39950C>T	XP_011541325.1:n.73-39950C>T
XM_011543024.3:c.-171-39950C>T	XP_011541326.1:n.-171-39950C>T
XM_011543025.2:c.514-39950C>T	XP_011541327.1:n.514-39950C>T
NM_032427.4:c.514-39950C>T MANE Select	NP_115803.1:n.514-39950C>T