Canonical Allele Identifier: CA2695228101

Gene: STXBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7641777dup , CM000681.2:g.7641777dup	GRCh38
NC_000019.9:g.7706663dup , CM000681.1:g.7706663dup	GRCh37
NC_000019.8:g.7612663dup	NCBI36
NG_016709.1:g.9673dup , LRG_165:g.9673dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000595866.2:c.*456dup	ENSP00000469553.2:n.*456dup
ENST00000600702.6:c.502dup	ENSP00000471737.2:p.Gln168ProfsTer?
ENST00000698367.1:n.550dup
ENST00000698368.1:c.*605dup	ENSP00000513686.1:n.*605dup
ENST00000698369.1:n.1652dup
ENST00000698370.1:n.309dup
ENST00000221283.10:c.502dup MANE Select	ENSP00000221283.4:p.Gln168ProfsTer?
ENST00000221283.9:c.502dup	ENSP00000221283.4:p.Gln168ProfsTer?
ENST00000414284.6:c.493dup	ENSP00000409471.1:p.Gln165ProfsTer?
ENST00000441779.6:c.535dup	ENSP00000413606.2:p.Gln179ProfsTer?
ENST00000595866.1:c.601dup
ENST00000595950.5:c.346dup	ENSP00000471161.1:p.Gln116ProfsTer?
ENST00000597068.5:c.502dup	ENSP00000471327.1:p.Gln168ProfsTer?
ENST00000598664.5:c.52-257dup	ENSP00000472796.1:n.52-257dup
ENST00000599648.1:n.336dup
ENST00000599737.5:c.382-257dup	ENSP00000471585.1:n.382-257dup
ENST00000622853.4:c.502dup	ENSP00000480468.1:p.Gln168ProfsTer?
NM_001127396.2:c.493dup	NP_001120868.1:p.Gln165ProfsTer?
NM_001272034.1:c.535dup	NP_001258963.1:p.Gln179ProfsTer?
NM_006949.3:c.502dup	NP_008880.2:p.Gln168ProfsTer?
NR_073560.1:n.551dup
XM_011528210.1:c.502dup	XP_011526512.1:p.Gln168ProfsTer?
XM_011528211.1:c.502dup	XP_011526513.1:p.Gln168ProfsTer?
XM_011528212.1:c.502dup	XP_011526514.1:p.Gln168ProfsTer?
XM_011528213.1:c.502dup	XP_011526515.1:p.Gln168ProfsTer?
XM_011528210.2:c.502dup	XP_011526512.1:p.Gln168ProfsTer?
XM_011528212.3:c.502dup	XP_011526514.1:p.Gln168ProfsTer?
XR_001753741.2:n.540dup
NM_006949.4:c.502dup MANE Select	NP_008880.2:p.Gln168ProfsTer?
NM_001127396.3:c.493dup	NP_001120868.1:p.Gln165ProfsTer?
NM_001272034.2:c.535dup	NP_001258963.1:p.Gln179ProfsTer?
NR_073560.2:n.542dup