Canonical Allele Identifier: CA2724881006

Gene: MAML2

Linked Data

• dbSNP Id: rs2135971943

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.96258990T>C , CM000673.2:g.96258990T>C	GRCh38
NC_000011.9:g.95992154T>C , CM000673.1:g.95992154T>C	GRCh37
NC_000011.8:g.95631802T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524717.6:c.513+82393A>G MANE Select	ENSP00000434552.1:n.513+82393A>G
ENST00000524717.5:c.513+82393A>G	ENSP00000434552.1:n.513+82393A>G
NM_032427.3:c.513+82393A>G	NP_115803.1:n.513+82393A>G
XM_011543024.1:c.-172+83918A>G	XP_011541326.1:n.-172+83918A>G
XM_011543025.1:c.513+82393A>G	XP_011541327.1:n.513+82393A>G
XM_011543024.3:c.-172+83918A>G	XP_011541326.1:n.-172+83918A>G
XM_011543025.2:c.513+82393A>G	XP_011541327.1:n.513+82393A>G
NM_032427.4:c.513+82393A>G MANE Select	NP_115803.1:n.513+82393A>G