Canonical Allele Identifier: CA13467595

Gene: MAML2

Linked Data

• dbSNP Id: rs7115578
• gnomAD v2: 11-96000100-G-A
• gnomAD v3: 11-96266936-G-A
• gnomAD v4: 11-96266936-G-A
• MyVariant Identifiers: chr11:g.96000100G>A (hg19) ; chr11:g.96266936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.96266936G>A , CM000673.2:g.96266936G>A	GRCh38
NC_000011.9:g.96000100G>A , CM000673.1:g.96000100G>A	GRCh37
NC_000011.8:g.95639748G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000524717.6:c.513+74447C>T MANE Select	ENSP00000434552.1:n.513+74447C>T
ENST00000524717.5:c.513+74447C>T	ENSP00000434552.1:n.513+74447C>T
NM_032427.3:c.513+74447C>T	NP_115803.1:n.513+74447C>T
XM_011543024.1:c.-172+75972C>T	XP_011541326.1:n.-172+75972C>T
XM_011543025.1:c.513+74447C>T	XP_011541327.1:n.513+74447C>T
XM_011543024.3:c.-172+75972C>T	XP_011541326.1:n.-172+75972C>T
XM_011543025.2:c.513+74447C>T	XP_011541327.1:n.513+74447C>T
NM_032427.4:c.513+74447C>T MANE Select	NP_115803.1:n.513+74447C>T