Canonical Allele Identifier: CA2581057759

Gene: MAML2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.96290263G>T , CM000673.2:g.96290263G>T	GRCh38
NC_000011.9:g.96023427G>T , CM000673.1:g.96023427G>T	GRCh37
NC_000011.8:g.95663075G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524717.6:c.513+51120C>A MANE Select	ENSP00000434552.1:n.513+51120C>A
ENST00000524717.5:c.513+51120C>A	ENSP00000434552.1:n.513+51120C>A
NM_032427.3:c.513+51120C>A	NP_115803.1:n.513+51120C>A
XM_011543024.1:c.-172+52645C>A	XP_011541326.1:n.-172+52645C>A
XM_011543025.1:c.513+51120C>A	XP_011541327.1:n.513+51120C>A
XM_011543024.3:c.-172+52645C>A	XP_011541326.1:n.-172+52645C>A
XM_011543025.2:c.513+51120C>A	XP_011541327.1:n.513+51120C>A
NM_032427.4:c.513+51120C>A MANE Select	NP_115803.1:n.513+51120C>A