Canonical Allele Identifier: CA941156414

Gene: MAML2

Linked Data

• dbSNP Id: rs1860578343
• gnomAD v3: 11-96133500-C-G
• gnomAD v4: 11-96133500-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.96133500C>G , CM000673.2:g.96133500C>G	GRCh38
NC_000011.9:g.95866664C>G , CM000673.1:g.95866664C>G	GRCh37
NC_000011.8:g.95506312C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524717.6:c.514-39983G>C MANE Select	ENSP00000434552.1:n.514-39983G>C
ENST00000524717.5:c.514-39983G>C	ENSP00000434552.1:n.514-39983G>C
NM_032427.3:c.514-39983G>C	NP_115803.1:n.514-39983G>C
XM_011543023.1:c.73-39983G>C	XP_011541325.1:n.73-39983G>C
XM_011543024.1:c.-171-39983G>C	XP_011541326.1:n.-171-39983G>C
XM_011543025.1:c.514-39983G>C	XP_011541327.1:n.514-39983G>C
XM_011543023.3:c.73-39983G>C	XP_011541325.1:n.73-39983G>C
XM_011543024.3:c.-171-39983G>C	XP_011541326.1:n.-171-39983G>C
XM_011543025.2:c.514-39983G>C	XP_011541327.1:n.514-39983G>C
NM_032427.4:c.514-39983G>C MANE Select	NP_115803.1:n.514-39983G>C