Canonical Allele Identifier: CA2838486090

Gene: BACE2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41246024dup , CM000683.2:g.41246024dup	GRCh38
NC_000021.8:g.42617951dup , CM000683.1:g.42617951dup	GRCh37
NC_000021.7:g.41539821dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330333.11:c.945dup MANE Select	ENSP00000332979.6:p.Phe316ValfsTer2
ENST00000328735.10:c.945dup	ENSP00000333854.6:p.Phe316ValfsTer2
ENST00000330333.10:c.945dup	ENSP00000332979.6:p.Phe316ValfsTer2
ENST00000347667.5:c.945dup	ENSP00000327528.4:p.Phe316ValfsTer2
ENST00000463674.5:n.401dup
ENST00000465326.5:n.581dup
ENST00000466122.5:n.650dup
ENST00000487994.5:n.625dup
ENST00000491838.5:n.596dup
NM_012105.4:c.945dup	NP_036237.2:p.Phe316ValfsTer2
NM_138991.2:c.945dup	NP_620476.1:p.Phe316ValfsTer2
NM_138992.2:c.945dup	NP_620477.1:p.Phe316ValfsTer2
XM_017028314.1:c.660dup	XP_016883803.1:p.Phe221ValfsTer2
NM_012105.5:c.945dup MANE Select	NP_036237.2:p.Phe316ValfsTer2
NM_138991.3:c.945dup	NP_620476.1:p.Phe316ValfsTer2
NM_138992.3:c.945dup	NP_620477.1:p.Phe316ValfsTer2